Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur.
A congenital or acquired protrusion of the meninges, unaccompanied by neural tissue, through a bony defect in the skull or vertebral column.
An irregular unpaired bone situated at the SKULL BASE and wedged between the frontal, temporal, and occipital bones (FRONTAL BONE; TEMPORAL BONE; OCCIPITAL BONE). Sphenoid bone consists of a median body and three pairs of processes resembling a bat with spread wings. The body is hollowed out in its inferior to form two large cavities (SPHENOID SINUS).
Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.
Discharge of cerebrospinal fluid through the nose. Common etiologies include trauma, neoplasms, and prior surgery, although the condition may occur spontaneously. (Otolaryngol Head Neck Surg 1997 Apr;116(4):442-9)
One of the paired air spaces located in the body of the SPHENOID BONE behind the ETHMOID BONE in the middle of the skull. Sphenoid sinus communicates with the posterosuperior part of NASAL CAVITY on the same side.
A light and spongy (pneumatized) bone that lies between the orbital part of FRONTAL BONE and the anterior of SPHENOID BONE. Ethmoid bone separates the ORBIT from the ETHMOID SINUS. It consists of a horizontal plate, a perpendicular plate, and two lateral labyrinths.
Fractures of the bones in the orbit, which include parts of the frontal, ethmoidal, lacrimal, and sphenoid bones and the maxilla and zygoma.
Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy generally occurring between days 18-29 of gestation. Ectodermal and mesodermal malformations (mainly involving the skull and vertebrae) may occur as a result of defects of neural tube closure. (From Joynt, Clinical Neurology, 1992, Ch55, pp31-41)
A malformation of the nervous system caused by failure of the anterior neuropore to close. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed but the eyes are usually normal. This condition may be associated with folate deficiency. Affected infants are only capable of primitive (brain stem) reflexes and usually do not survive for more than two weeks. (From Menkes, Textbook of Child Neurology, 5th ed, p247)
PROCEDURES that use NEUROENDOSCOPES for disease diagnosis and treatment. Neuroendoscopy, generally an integration of the neuroendoscope with a computer-assisted NEURONAVIGATION system, provides guidance in NEUROSURGICAL PROCEDURES.
A bony prominence situated on the upper surface of the body of the sphenoid bone. It houses the PITUITARY GLAND.
Congenital, or rarely acquired, herniation of meningeal and spinal cord tissue through a bony defect in the vertebral column. The majority of these defects occur in the lumbosacral region. Clinical features include PARAPLEGIA, loss of sensation in the lower body, and incontinence. This condition may be associated with the ARNOLD-CHIARI MALFORMATION and HYDROCEPHALUS. (From Joynt, Clinical Neurology, 1992, Ch55, pp35-6)
Congenital absence of or defects in structures of the eye; may also be hereditary.
A characteristic symptom complex.
'Abnormalities, Multiple' is a broad term referring to the presence of two or more structural or functional anomalies in an individual, which may be genetic or environmental in origin, and can affect various systems and organs of the body.
Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms.
Surgery performed on the nervous system or its parts.
Hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed CYSTS within the KIDNEYS. They include diseases with autosomal dominant and autosomal recessive inheritance.
Gross hypo- or aplasia of one or more long bones of one or more limbs. The concept includes amelia, hemimelia, phocomelia, and sirenomelia.
Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)
Bones that constitute each half of the pelvic girdle in VERTEBRATES, formed by fusion of the ILIUM; ISCHIUM; and PUBIC BONE.
A historical and cultural entity dispersed across a wide geographical area under the influence of Greek civilization, culture, and science. The Greek Empire extended from the Greek mainland and the Aegean islands from the 16th century B.C., to the Indus Valley in the 4th century under Alexander the Great, and to southern Italy and Sicily. Greek medicine began with Homeric and Aesculapian medicine and continued unbroken to Hippocrates (480-355 B.C.). The classic period of Greek medicine was 460-136 B.C. and the Graeco-Roman period, 156 B.C.-576 A.D. (From A. Castiglioni, A History of Medicine, 2d ed; from F. H. Garrison, An Introduction to the History of Medicine, 4th ed)
Congenital cystic dilatation of the intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC). It consists of 2 types: simple Caroli disease is characterized by bile duct dilatation (ectasia) alone; and complex Caroli disease is characterized by bile duct dilatation with extensive hepatic fibrosis and portal hypertension (HYPERTENSION, PORTAL). Benign renal tubular ectasia is associated with both types of Caroli disease.
A piperidinyl isoindole originally introduced as a non-barbiturate hypnotic, but withdrawn from the market due to teratogenic effects. It has been reintroduced and used for a number of immunological and inflammatory disorders. Thalidomide displays immunosuppressive and anti-angiogenic activity. It inhibits release of TUMOR NECROSIS FACTOR-ALPHA from monocytes, and modulates other cytokine action.
Research into the cause, transmission, amelioration, elimination, or enhancement of inherited disorders and traits.

High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23. (1/200)

Previously, we assigned the genes for two autosomal recessive disorders, Meckel syndrome (MKS; MIM 249000) and Mulibrey Nanism [MUL (muscle-liver-brain-eye Nanism); MIM 253250] that are enriched in the Finnish population, to overlapping genomic regions on chromosome 17q. Now, we report the construction of a bacterial clone contig over the critical region for both disorders. Several novel CA-repeat markers were isolated from these clones, which allowed refined mapping of the MKS and MUL loci using haplotype and linkage disequilibrium analysis. The localization of the MKS locus was narrowed to <1 cM between markers D17S1290 and 132-CA, within an approximately 800-kb region. The MUL locus was refined into an approximately 1400-kb interval between markers D17S1290 and 52-CA. The whole MKS region falls within the MUL region. In the common critical region, the conserved haplotypes were different in MKS and MUL patients. A trancript map was constructed by assigning expressed sequence tags (ESTs) and genes, derived from the human gene map, to the bacterial clone contig. Altogether, four genes and a total of 20 ESTs were precisely localized. These data provide the molecular tools for the final identification of the MKS and the MUL genes.  (+info)

Neural tube defects along the Texas-Mexico border, 1993-1995. (2/200)

In response to a 1991 anencephaly cluster in Cameron County, Texas, a surveillance and neural tube defect (NTD) recurrence prevention project for NTDs was implemented in the 14 Texas-Mexico border counties. For 1993-1995, NTD-affected pregnancies were identified at all gestational ages through active surveillance of multiple case-ascertainment sources. There were 87 cases of anencephaly, 96 cases of spina bifida, and 14 cases of encephalocele for respective rates of 6.4, 7.1, and 1.1 per 10,000 live births. Of the 197 NTD case-women, 93% were Hispanic. The overall, Hispanic, and Anglo NTD rates were, respectively, 14.6, 14.9, and 10.6 per 10,000 live births. The NTD rate for El Paso County (9.8 per 10,000), the most northwestern Texas county, was significantly lower (p = 0.001) than the aggregate rate for the rest of the Texas border (17.1 per 10,000). The overall Texas border rate was significantly higher (p < 0.001) than a recently estimated rate of 9.3 for California and minimally higher than a recently adjusted rate of 11.3 for the Metropolitan Atlanta Congenital Defects Program counties (p = 0.052), both of which now reflect all gestational ages. Of the 197 Texas border cases, 85% (168 cases) reached a gestational age of > or =20 weeks. Excluding cases of <20 weeks' gestation in the rate had a more marked effect on reducing the anencephaly rate (4.9 per 10,000) than the spina bifida rate (6.7 per 10,000). A country of birth was known for 153 (83%) of the 184 Hispanic case-women: 63% were born in Mexico; 24%, in Texas; and 11%, elsewhere in the United States. Rates for Mexico-born Hispanic women (15.1 per 10,000) were significantly higher than rates for United States-born Hispanic women (9.5 per 10,000) (p = 0.006).  (+info)

Dysgenesis of the internal carotid artery associated with transsphenoidal encephalocele: a neural crest syndrome? (3/200)

We describe two original cases of internal carotid artery dysgenesis associated with a malformative spectrum, which includes transsphenoidal encephalocele, optic nerve coloboma, hypopituitarism, and hypertelorism. Cephalic neural crest cells migrate to various regions in the head and neck where they contribute to the development of structures as diverse as the anterior skull base, the walls of the craniofacial arteries, the forebrain, and the face. Data suggest that the link between these rare malformations is abnormal neural crest development.  (+info)

Central brain herniation secondary to juvenile diabetic ketoacidosis. (4/200)

We present the CT, MR, and autopsy findings of central brain herniation in a 9-year-old boy undergoing treatment for diabetic ketoacidosis (DKA). Severe cerebral edema resulting in central brain herniation is an uncommon complication of the treatment of DKA but carries with it high morbidity and mortality. Radiologic imaging and autopsy findings in this case revealed striking infarctions of central brain structures.  (+info)

Surgical management of bacterial meningitis. (5/200)

A variety of associated lesions may require the neurosurgeon's assistance in the management of bacterial meningitis. As treatment of this infection of the central nervous system proceeds, the surgeon will have to decide about the concurrent or subsequent operative treatment of congenital dysraphic states, paraneural infections, compound fractures or penetrating wounds of thecranium or spine, or infected bypass shunts for cerebrospinal fluid (CSF). In patients with intractable meningitic infections the surgeon may have to insert a ventricular drainage-irrigation system to permit adequate perfusion of the CSF pathways with antibiotic. Hydrocephalus or subdural effusions complicating meningitis may bring the patient to the surgeon long after the infection has been cured. This paper examines these problems and outlines the current principles of management.  (+info)

Pregnancy in patients with Wegener's granulomatosis: report of five cases in three women. (6/200)

Five cases of pregnancy occurring in three women with previously diagnosed Wegener's granulomatosis are described. The disease was diffuse in one case and localised in the other. Initial treatment consisted of a combination of corticosteroids and intravenous cyclophosphamide in two women, and methotrexate in one. Four pregnancies ended in live births despite pre-eclampsia in two cases. One therapeutic abortion was induced because of encephalocele. Comparable reported cases were reviewed to examine the implications of immunosuppressive treatment on the fetus. A relapse occurred during pregnancy in 40% of the cases, but in 25% if only pregnancies beginning during inactive disease were taken into account. No other indicator for maternal and fetal outcome was obvious. Pregnancy should be planned after complete disappearance of disease activity. In the case of a relapse a combination of immunosuppressive drugs and corticosteroids should be chosen rather than corticosteroids alone because the outcome of pregnancy is poor in cases of undertreatment. Prematurity remains common.  (+info)

Transtentorial herniation after unilateral infarction of the anterior cerebral artery. (7/200)

BACKGROUND: Fatal cerebral herniation is a common complication of large ("malignant") middle cerebral artery infarcts but has not been reported in unilateral anterior cerebral artery (ACA) infarction. CASE DESCRIPTION: We report a 47-year-old woman who developed an acute left hemiparesis during an attack of migraine. Cranial CT (CCT) was normal but demonstrated narrow external cerebrospinal fluid compartments. Transcranial Doppler sonography was compatible with occlusion of the right ACA. Systemic thrombolytic therapy with tissue plasminogen activator was initiated 105 minutes after symptom onset. Follow-up CCT 24 hours after treatment revealed subtotal ACA infarction with hemorrhagic conversion. Two days later, the patient suddenly deteriorated with clinical signs of cerebral herniation, as confirmed by CCT. An extended right hemicraniectomy was immediately performed. Within 6 months, the patient regained her ability to walk but remained moderately disabled. CONCLUSIONS: This is the first reported case of unilateral ACA infarct leading to almost fatal cerebral herniation. Narrow external cerebrospinal fluid compartments in combination with early reperfusion, hemorrhagic transformation, and additional dysfunction of the blood-brain barrier promoted by tissue plasminogen activator and migraine may have contributed to this unusual course.  (+info)

Fixed and dilated pupils after trauma, stroke, and previous intracranial surgery: management and outcome. (8/200)

OBJECTIVES: To clarify whether different causative events (trauma, stroke, intracranial surgery), time of intervention, and treatment mode influence outcome, patients with fixed and dilated pupils (FDPs) in a prospective neurosurgical series were evaluated. METHODS: Ninety nine consecutive patients who presented with or developed one or two FDPs, were split into three groups according to the respective aetiology: 46 patients had a trauma, 41 patients a stroke (subarachnoid or intracerebral haemorrhage), and 12 patients had undergone previous elective intracranial surgery. Appropriate therapy was performed depending on the CT findings. Outcome was classified according to the Glasgow outcome scale (GOS). RESULTS: Overall mortality was 75%. In 15% outcome was unfavourable (GOS 2 and 3), and in 10% favourable (GOS 4, 5) at 24 month follow up. No differences in outcome were found between trauma, stroke, and postelective surgery groups. Unilaterally FDP was associated with a better chance of survival (46% v 13%; p<0.01). Age did not correlate with survival, but younger survivors had a significantly better outcome. Patients in whom an intracranial mass was removed surgically had a 42% survival rate, compared with 8% with conservative treatment (p<0.01). Patients with a shorter delay from FDPs to intervention had a better chance of recovery after trauma and previous intracranial surgery (p<0.05). No patient survived better than a vegetative state, if previous FDPs did not become reactive shortly after therapy. If both pupils became reactive on therapy, the chance of survival was 62%. Of these survivors 42% had a favourable outcome. CONCLUSION: Bilateral restoration of pupillary reactivity shortly after therapy is crucial for survival. Surgical evacuation of an intracranial mass, unilateral FDPs, early intervention, and younger age are related to better chances of survival or recovery. The prognosis of patients with FDPs after trauma, stroke, and previous elective intracranial surgery is similar.  (+info)

An Encephalocele is a type of neural tube defect that occurs when the bones of the skull do not close completely during fetal development. This results in a sac-like protrusion of the brain and the membranes that cover it through an opening in the skull. The sac may be visible on the scalp, forehead, or back of the head, and can vary in size. Encephaloceles can cause a range of symptoms, including developmental delays, intellectual disabilities, vision problems, and seizures, depending on the severity and location of the defect. Treatment typically involves surgical repair of the encephalocele soon after birth to prevent further damage to the brain and improve outcomes.

A meningocele is a type of neural tube defect that results in the herniation of the meninges (the protective membranes covering the brain and spinal cord) through a defect in the vertebral column. The meninges protrude as a sac-like structure, which may be covered by skin or a thin layer of tissue. Meningoceles usually do not contain neural tissue, but cerebrospinal fluid is present within the sac. They are typically asymptomatic unless there is compression of surrounding structures or infection. Treatment generally involves surgical repair to prevent potential complications such as meningitis or neurological damage.

The sphenoid bone is a complex, irregularly shaped bone located in the middle cranial fossa and forms part of the base of the skull. It articulates with several other bones, including the frontal, parietal, temporal, ethmoid, palatine, and zygomatic bones. The sphenoid bone has two main parts: the body and the wings.

The body of the sphenoid bone is roughly cuboid in shape and contains several important structures, such as the sella turcica, which houses the pituitary gland, and the sphenoid sinuses, which are air-filled cavities within the bone. The greater wings of the sphenoid bone extend laterally from the body and form part of the skull's lateral walls. They contain the superior orbital fissure, through which important nerves and blood vessels pass between the cranial cavity and the orbit of the eye.

The lesser wings of the sphenoid bone are thin, blade-like structures that extend anteriorly from the body and form part of the floor of the anterior cranial fossa. They contain the optic canal, which transmits the optic nerve and ophthalmic artery between the brain and the orbit of the eye.

Overall, the sphenoid bone plays a crucial role in protecting several important structures within the skull, including the pituitary gland, optic nerves, and ophthalmic arteries.

Hypertelorism is a medical term that refers to an ocular condition where the distance between two eyes (interpupillary distance) is abnormally increased. It's typically defined as an interpupillary distance that measures more than 2 standard deviations beyond the mean for a given age, gender, and race.

This condition can be associated with various genetic syndromes or conditions such as craniosynostosis (premature fusion of skull sutures), fetal alcohol syndrome, and certain chromosomal abnormalities like Down syndrome. Hypertelorism may also occur in isolation without any other associated anomalies.

It's important to note that hypertelorism can have cosmetic implications, particularly if the distance between the eyes is significantly increased, as it may affect the overall symmetry and appearance of the face. However, in most cases, this condition does not directly impact vision unless there are other related structural abnormalities of the eye or orbit.

Cerebrospinal fluid (CSF) rhinorrhea is a condition where the cerebrospinal fluid, which surrounds and protects the brain and spinal cord, leaks through the nasal cavity. This occurs due to a defect or opening in the skull base or the thin bone that separates the brain from the nasal cavity, known as the cribriform plate.

CSF rhinorrhea can result from trauma, surgery, or spontaneously due to increased pressure in the brain. It is important to diagnose and treat this condition promptly because it increases the risk of meningitis, an infection of the membranes covering the brain and spinal cord. Treatment options include bed rest, hydration, stool softeners, and sometimes surgical repair of the defect.

The sphenoid sinuses are air-filled spaces located within the sphenoid bone, which is one of the bones that make up the skull base. These sinuses are located deep inside the skull, behind the eyes and nasal cavity. They are paired and separated by a thin bony septum, and each one opens into the corresponding nasal cavity through a small opening called the sphenoethmoidal recess. The sphenoid sinuses vary greatly in size and shape between individuals. They develop during childhood and continue to grow until early adulthood. The function of the sphenoid sinuses, like other paranasal sinuses, is not entirely clear, but they may contribute to reducing the weight of the skull, resonating voice during speech, and insulating the brain from trauma.

The ethmoid bone is a paired, thin, and lightweight bone that forms part of the skull's anterior cranial fossa and contributes to the formation of the orbit and nasal cavity. It is located between the frontal bone above and the maxilla and palatine bones below. The ethmoid bone has several important features:

1. Cribriform plate: This is the horizontal, sieve-like portion that forms part of the anterior cranial fossa and serves as the roof of the nasal cavity. It contains small openings (foramina) through which olfactory nerves pass.
2. Perpendicular plate: The perpendicular plate is a vertical structure that projects downward from the cribriform plate, forming part of the nasal septum and separating the left and right nasal cavities.
3. Superior and middle nasal conchae: These are curved bony projections within the lateral walls of the nasal cavity that help to warm, humidify, and filter incoming air.
4. Lacrimal bone: The ethmoid bone articulates with the lacrimal bone, forming part of the medial wall of the orbit.
5. Frontal process: This is a thin, vertical plate that articulates with the frontal bone above the orbit.
6. Sphenoidal process: The sphenoidal process connects the ethmoid bone to the sphenoid bone posteriorly.

The ethmoid bone plays a crucial role in protecting the brain and providing structural support for the eyes, as well as facilitating respiration by warming, humidifying, and filtering incoming air.

Orbital fractures refer to breaks in the bones that make up the eye socket, also known as the orbit. These bones include the maxilla, zygoma, frontal bone, and palatine bone. Orbital fractures can occur due to trauma, such as a blunt force injury or a penetrating wound.

There are several types of orbital fractures, including:

1. Blowout fracture: This occurs when the thin bone of the orbital floor is broken, often due to a direct blow to the eye. The force of the impact can cause the eyeball to move backward, breaking the bone and sometimes trapping the muscle that moves the eye (the inferior rectus).
2. Blow-in fracture: This type of fracture involves the breakage of the orbital roof, which is the bone that forms the upper boundary of the orbit. It typically occurs due to high-impact trauma, such as a car accident or a fall from a significant height.
3. Direct fracture: A direct fracture happens when there is a break in one or more of the bones that form the walls of the orbit. This type of fracture can result from a variety of traumas, including motor vehicle accidents, sports injuries, and assaults.
4. Indirect fracture: An indirect fracture occurs when the force of an injury is transmitted to the orbit through tissues surrounding it, causing the bone to break. The most common type of indirect orbital fracture is a blowout fracture.

Orbital fractures can cause various symptoms, including pain, swelling, bruising, and double vision. In some cases, the fracture may also lead to enophthalmos (sinking of the eye into the orbit) or telecanthus (increased distance between the inner corners of the eyes). Imaging tests, such as CT scans, are often used to diagnose orbital fractures and determine the best course of treatment. Treatment may include observation, pain management, and in some cases, surgery to repair the fracture and restore normal function.

Neural Tube Defects (NTDs) are a group of birth defects that affect the brain, spine, or spinal cord. They occur when the neural tube, which forms the early brain and spinal cord of the embryo, does not close properly during fetal development. This can result in various conditions such as:

1. Anencephaly: a severe defect where most of the brain and skull are missing. Infants with anencephaly are usually stillborn or die shortly after birth.
2. Spina bifida: a condition where the spine does not close properly, leaving a portion of the spinal cord and nerves exposed. This can result in various neurological problems, including paralysis, bladder and bowel dysfunction, and hydrocephalus (fluid buildup in the brain).
3. Encephalocele: a condition where the skull does not close properly, allowing the brain to protrude through an opening in the skull. This can result in various neurological problems, including developmental delays, vision and hearing impairments, and seizures.

NTDs are thought to be caused by a combination of genetic and environmental factors, such as folic acid deficiency, obesity, diabetes, and exposure to certain medications during pregnancy. Folic acid supplementation before and during early pregnancy has been shown to reduce the risk of NTDs.

Anencephaly is a serious birth defect that affects the neural tube, which is the structure that develops into the brain and spinal cord. In anencephaly, the neural tube fails to close properly during fetal development, resulting in the absence of a major portion of the brain, skull, and scalp.

Anencephaly is typically diagnosed through prenatal ultrasound or other imaging tests. Unfortunately, it is a fatal condition, and most babies with anencephaly do not survive birth or live for more than a few hours or days after birth.

The exact cause of anencephaly is not fully understood, but it is believed to be related to genetic factors as well as environmental influences such as folic acid deficiency and exposure to certain medications or chemicals during pregnancy. Pregnant women are often advised to take folic acid supplements to reduce the risk of neural tube defects, including anencephaly.

Neuroendoscopy is a minimally invasive surgical technique that involves the use of an endoscope to access and treat various conditions within the brain and spinal column. An endoscope is a long, flexible tube with a light and camera at its tip, which allows surgeons to view and operate on internal structures through small incisions or natural openings in the body.

In neuroendoscopy, the surgeon uses the endoscope to navigate through the brain's ventricular system (fluid-filled spaces) or other narrow spaces within the skull or spine to diagnose and treat conditions such as hydrocephalus, brain tumors, arachnoid cysts, and intraventricular hemorrhage.

The benefits of neuroendoscopy include reduced trauma to surrounding tissues, shorter hospital stays, faster recovery times, and improved outcomes compared to traditional open surgical approaches. However, neuroendoscopic procedures require specialized training and expertise due to the complexity of the anatomy involved.

The Sella Turcica, also known as the Turkish saddle, is a depression or fossa in the sphenoid bone located at the base of the skull. It forms a housing for the pituitary gland, which is a small endocrine gland often referred to as the "master gland" because it controls other glands and makes several essential hormones. The Sella Turcica has a saddle-like shape, with its anterior and posterior clinoids forming the front and back of the saddle, respectively. This region is of significant interest in neuroimaging and clinical settings, as various conditions such as pituitary tumors or other abnormalities may affect the size, shape, and integrity of the Sella Turcica.

Meningomyelocele is a type of neural tube defect that affects the development of the spinal cord and the surrounding membranes known as meninges. In this condition, a portion of the spinal cord and meninges protrude through an opening in the spine, creating a sac-like structure on the back. This sac is usually covered by skin, but it may be open in some cases.

Meningomyelocele can result in various neurological deficits, including muscle weakness, paralysis, and loss of sensation below the level of the lesion. It can also cause bladder and bowel dysfunction, as well as problems with sexual function. The severity of these symptoms depends on the location and extent of the spinal cord defect.

Early diagnosis and treatment are crucial for managing meningomyelocele and preventing further complications. Treatment typically involves surgical closure of the opening in the spine to protect the spinal cord and prevent infection. Physical therapy, occupational therapy, and other supportive care measures may also be necessary to help individuals with meningomyelocele achieve their full potential for mobility and independence.

Eye abnormalities refer to any structural or functional anomalies that affect the eye or its surrounding tissues. These abnormalities can be present at birth (congenital) or acquired later in life due to various factors such as injury, disease, or aging. Some examples of eye abnormalities include:

1. Strabismus: Also known as crossed eyes, strabismus is a condition where the eyes are misaligned and point in different directions.
2. Nystagmus: This is an involuntary movement of the eyes that can be horizontal, vertical, or rotatory.
3. Cataracts: A cataract is a clouding of the lens inside the eye that can cause vision loss.
4. Glaucoma: This is a group of eye conditions that damage the optic nerve and can lead to vision loss.
5. Retinal disorders: These include conditions such as retinal detachment, macular degeneration, and diabetic retinopathy.
6. Corneal abnormalities: These include conditions such as keratoconus, corneal ulcers, and Fuchs' dystrophy.
7. Orbital abnormalities: These include conditions such as orbital tumors, thyroid eye disease, and Graves' ophthalmopathy.
8. Ptosis: This is a condition where the upper eyelid droops over the eye.
9. Color blindness: A condition where a person has difficulty distinguishing between certain colors.
10. Microphthalmia: A condition where one or both eyes are abnormally small.

These are just a few examples of eye abnormalities, and there are many others that can affect the eye and its functioning. If you suspect that you have an eye abnormality, it is important to consult with an ophthalmologist for proper diagnosis and treatment.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.

Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.

Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.

The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.

Ciliary motility disorders are a group of rare genetic conditions that affect the function of cilia, which are tiny hair-like structures on the surface of cells in the body. Cilia play an important role in moving fluids and particles across the cell surface, including the movement of mucus and other substances in the respiratory system, the movement of eggs and sperm in the reproductive system, and the movement of fluid in the inner ear.

Ciliary motility disorders are caused by mutations in genes that are responsible for the proper functioning of cilia. These mutations can lead to abnormalities in the structure or function of cilia, which can result in a range of symptoms depending on the specific disorder and the parts of the body that are affected.

Some common symptoms of ciliary motility disorders include recurrent respiratory infections, chronic sinusitis, hearing loss, infertility, and situs inversus, a condition in which the major organs are reversed or mirrored from their normal positions. There are several different types of ciliary motility disorders, including primary ciliary dyskinesia, Kartagener syndrome, and immotile cilia syndrome.

Treatment for ciliary motility disorders typically involves addressing the specific symptoms and underlying causes of the disorder. This may include antibiotics to treat respiratory infections, surgery to correct structural abnormalities, or assisted reproductive technologies to help with infertility.

Neurosurgical procedures are operations that are performed on the brain, spinal cord, and peripheral nerves. These procedures are typically carried out by neurosurgeons, who are medical doctors with specialized training in the diagnosis and treatment of disorders of the nervous system. Neurosurgical procedures can be used to treat a wide range of conditions, including traumatic injuries, tumors, aneurysms, vascular malformations, infections, degenerative diseases, and congenital abnormalities.

Some common types of neurosurgical procedures include:

* Craniotomy: A procedure in which a bone flap is temporarily removed from the skull to gain access to the brain. This type of procedure may be performed to remove a tumor, repair a blood vessel, or relieve pressure on the brain.
* Spinal fusion: A procedure in which two or more vertebrae in the spine are fused together using bone grafts and metal hardware. This is often done to stabilize the spine and alleviate pain caused by degenerative conditions or spinal deformities.
* Microvascular decompression: A procedure in which a blood vessel that is causing pressure on a nerve is repositioned or removed. This type of procedure is often used to treat trigeminal neuralgia, a condition that causes severe facial pain.
* Deep brain stimulation: A procedure in which electrodes are implanted in specific areas of the brain and connected to a battery-operated device called a neurostimulator. The neurostimulator sends electrical impulses to the brain to help alleviate symptoms of movement disorders such as Parkinson's disease or dystonia.
* Stereotactic radiosurgery: A non-invasive procedure that uses focused beams of radiation to treat tumors, vascular malformations, and other abnormalities in the brain or spine. This type of procedure is often used for patients who are not good candidates for traditional surgery due to age, health status, or location of the lesion.

Neurosurgical procedures can be complex and require a high degree of skill and expertise. Patients considering neurosurgical treatment should consult with a qualified neurosurgeon to discuss their options and determine the best course of action for their individual situation.

Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the growth of multiple cysts in the kidneys. These cysts are fluid-filled sacs that can vary in size and can multiply, leading to enlarged kidneys. The increased size and number of cysts can result in reduced kidney function, high blood pressure, and eventually kidney failure.

There are two main types of PKD: Autosomal Dominant Polycystic Kidney Disease (ADPKD) and Autosomal Recessive Polycystic Kidney Disease (ARPKD). ADPKD is the most common form, affecting approximately 1 in every 500 people. It typically develops in adulthood. On the other hand, ARPKD is a rarer form, affecting about 1 in every 20,000 children, and it often presents in infancy or early childhood.

In addition to kidney problems, PKD can also affect other organs, such as the liver and the heart. It's important to note that while there is no cure for PKD, various treatments can help manage symptoms and slow down the progression of the disease.

Ectromelia is a medical term that refers to the congenital absence or malformation of a limb or extremity. It is also known as "congenital amputation" or "limb reduction defect." This condition can affect any extremity, including arms, legs, hands, or feet, and can range from mild, such as a missing finger or toe, to severe, such as the absence of an entire limb.

Ectromelia can be caused by various factors, including genetic mutations, environmental factors, or a combination of both. In some cases, the cause may be unknown. Treatment options for ectromelia depend on the severity and location of the malformation and may include prosthetics, physical therapy, or surgery.

An encyclopedia is a comprehensive reference work containing articles on various topics, usually arranged in alphabetical order. In the context of medicine, a medical encyclopedia is a collection of articles that provide information about a wide range of medical topics, including diseases and conditions, treatments, tests, procedures, and anatomy and physiology. Medical encyclopedias may be published in print or electronic formats and are often used as a starting point for researching medical topics. They can provide reliable and accurate information on medical subjects, making them useful resources for healthcare professionals, students, and patients alike. Some well-known examples of medical encyclopedias include the Merck Manual and the Stedman's Medical Dictionary.

The pelvic bones, also known as the hip bones, are a set of three irregularly shaped bones that connect to form the pelvic girdle in the lower part of the human body. They play a crucial role in supporting the spine and protecting the abdominal and pelvic organs.

The pelvic bones consist of three bones:

1. The ilium: This is the largest and uppermost bone, forming the majority of the hip bone and the broad, flaring part of the pelvis known as the wing of the ilium or the iliac crest, which can be felt on the side of the body.
2. The ischium: This is the lower and back portion of the pelvic bone that forms part of the sitting surface or the "sit bones."
3. The pubis: This is the front part of the pelvic bone, which connects to the other side at the pubic symphysis in the midline of the body.

The pelvic bones are joined together at the acetabulum, a cup-shaped socket that forms the hip joint and articulates with the head of the femur (thigh bone). The pelvic bones also have several openings for the passage of blood vessels, nerves, and reproductive and excretory organs.

The shape and size of the pelvic bones differ between males and females due to their different roles in childbirth and locomotion. Females typically have a wider and shallower pelvis than males to accommodate childbirth, while males usually have a narrower and deeper pelvis that is better suited for weight-bearing and movement.

I believe there may be some confusion in your question as "Greek World" is not a medical term. If you are referring to the ancient Greek civilization, it was a significant period in human history that greatly contributed to the development of various fields including medicine. The ancient Greeks, particularly Hippocrates and his followers, are often referred to as the "Fathers of Medicine." They made substantial contributions to the field through their observations, theories, and practices which formed the foundation of much of Western medical thought. However, "Greek World" itself does not have a medical definition.

Caroli disease is a rare genetic disorder that affects the liver and bile ducts. It is characterized by abnormal dilations or sac-like structures in the intrahepatic bile ducts, which are the ducts that carry bile from the liver to the gallbladder and small intestine. These dilations can lead to recurrent cholangitis (inflammation of the bile ducts), stone formation, and liver damage.

Caroli disease is usually diagnosed in childhood or early adulthood, and it can be associated with other congenital anomalies such as polycystic kidney disease. The exact cause of Caroli disease is not fully understood, but it is believed to be inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the abnormal gene, one from each parent, to develop the condition.

Treatment for Caroli disease may include antibiotics to manage cholangitis, endoscopic procedures to remove stones or dilate strictures, and surgery to bypass or remove affected bile ducts. In severe cases, liver transplantation may be necessary. Regular monitoring of liver function and surveillance for complications are essential in the management of this condition.

Thalidomide is a pharmaceutical drug that was initially developed and marketed as a sedative and treatment for morning sickness in pregnant women. However, it was later found to cause severe birth defects when given during pregnancy, particularly damage to the limbs, ears, and eyes of the developing fetus. As a result, thalidomide was banned in many countries in the 1960s.

In recent years, thalidomide has been reintroduced as a treatment for certain medical conditions, including multiple myeloma (a type of cancer that affects plasma cells) and leprosy. It is also being studied as a potential treatment for other diseases, such as rheumatoid arthritis and Crohn's disease.

Thalidomide works by suppressing the immune system and inhibiting the formation of new blood vessels (angiogenesis). However, its use is tightly regulated due to its teratogenic effects, meaning it can cause birth defects if taken during pregnancy. Women who are pregnant or planning to become pregnant should not take thalidomide, and healthcare providers must follow strict guidelines when prescribing the drug to ensure that it is used safely and effectively.

Genetic research is a branch of biomedical science that involves the study of genes, their functions, and heredity. It aims to understand how genetic variations contribute to human health and disease by using various scientific approaches such as genetics, genomics, molecular biology, biochemistry, and bioinformatics.

Genetic research can be conducted on humans, animals, or plants, and it can focus on a variety of areas including:

1. Identifying genes associated with specific diseases or traits
2. Understanding how genes are regulated and expressed
3. Investigating the role of genetic mutations in disease development
4. Developing new diagnostic tests and treatments based on genetic information
5. Exploring evolutionary relationships between species
6. Examining ethical, legal, and social implications of genetic research.

Genetic research has led to significant advances in our understanding of many diseases, including cancer, diabetes, heart disease, and neurological disorders. It also holds great promise for personalized medicine, which tailors treatments to individual patients based on their genetic makeup.

... on the head of a two-year-old. Baby with encephalocele. Encephalocele. Neonate with encephalocele 1-year-old with ... Encephaloceles of the back of the head are more common in Europe and North America, while encephaloceles on the front of the ... Usually encephaloceles are noticeable deformities and are diagnosed immediately after birth, but a small encephalocele in the ... The severity of encephalocele varies, depending on its location. Encephaloceles are often accompanied by craniofacial ...
The most common cranial anomaly seen in combination with facial clefts is encephalocele. The treatment of encephalocele is ... Hunt, Jeremy A.; Hobar, P. Craig (2003). "Common Craniofacial Anomalies: Facial Clefts and Encephaloceles". Plastic and ... Kamerer, Donald B.; Caparosa, Ralph J. (1982). "Temporal Bone Encephalocele ??? Diagnosis and Treatment". The Laryngoscope. 92 ... with the exception of a basal encephalocele, in which the pituitary gland can be found in the mouth. The most common orbital / ...
... dislocated lens with skull defects such as occipital encephalocele and occipital aplasia. Encephalocele is a neural tube defect ... Retinal detachment and encephalocele. J Pediat Ophthalmol 1971; 8: 181-184 Reference, Genetics Home. "Knobloch syndrome". ...
Die Schädeldeformität bei der Encephalocele congenita (Halle 1882).-- treatise involving encephalocele congenita. Die ...
... encephalocele of the carnival vault, and nasal encephaloceles (frontoethmoidal encephaloceles and basal encephaloceles), with ... Encephaloceles are often obvious and diagnosed immediately. Sometimes small encephaloceles in the nasal and forehead are ... Encephaloceles are characterized by protrusions of the brain through the skull that are sac-like and covered with membrane. ... Due to the range in its location, encephaloceles are classified by the location as well as the type of defect it causes. ...
Occipital encephalocele may occur in DWM. This has generally been found at rates of 6-8%. It has been suggested to occur to ... an occipital encephalocele or underdeveloped genitalia or kidneys. It is sometimes discovered in adolescents or adults due to ...
"NINDS Encephaloceles Information Page." National Institute of Neurological Disorders and Stroke. 2007. National Institutes of ... The most severely affected will have a fronto-ethmoid-nasal-maxillary encephalocele. The severity of limb malformations and ... with a prominent bridge that gives it the appearance of being curved Ear malformations Intellectual disability Encephalocele ( ...
Examples include encephalocele, glioma, inverted papilloma, and cancer. Early biopsy is recommended for unilateral nasal polyps ...
"Lethal occipital encephalocele-skeletal dysplasia syndrome (Concept Id: C3280729)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02 ...
... is rare, while an encephalocele is uncommon. NGH usually presents in infancy, while encephalocele may ... If there is a concurrent cerebrospinal fluid (CSF) leak, then an encephalocele is much more likely. This lesion is separated ... This is distinctly different from an encephalocele, which is a herniation of brain tissue and/or leptomeninges, that develops ... it is distinctly different from the trauma or iatrogenic development of an encephalocele. Although surgery is the treatment of ...
The clinical spectrum of the disorder includes encephalocele, craniorachischisis, and anencephaly. In addition, these defects ...
Sometimes, in the case of iniencephaly apertus, an encephalocele (sac-like protrusions of the brain through an opening in the ... The more severe group is iniencephaly apertus (open iniencephaly), involving the development of an encephalocele. In the other ... Additional symptoms include: anencephaly (failure of major sections of the brain to form) encephalocele (cranial contents ... formation of an encephalocele (for iniencephaly apertus), and dorsiflexion of the head in respect to the spine, can be ...
"Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome". Nature Genetics. 40 (4): 443 ...
"Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome". Nat. Genet. 40 (4): 443-8. ...
... meningo-encephalocele and meningohydro-encephalocele. In which respectively protrude the meninges, the meninges and brain ... In less severe situations it may lead to different forms of encephalocele (i.e. cranium bifidum). There are three forms of ...
Mutations in NID1 cause autosomal dominant Dandy-Walker malformation with occipital encephalocele (ADDWOC). Nidogen-1 has been ...
... and encephalocele. Established in 2008, CURE Ethiopia performs over 2,500 reconstructive and orthopedic surgeries every year ...
Congenital anomalies of the nervous system include neural tube defects such as spina bifida, encephalocele, and anencephaly. ...
"Repair of iatrogenic temporal lobe encephalocele after canal wall down mastoidectomy in the presence of active cholesteatoma". ...
1996). "A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3". ...
It is important to distinguish a dacrocystocele from the more serious encephalocele, which is a neural tube defect. A ...
... encephalocele, orbital cyst and omphalocele: a recurrent fetal malformation pattern coming into focus". Clinical Dysmorphology ...
Their youngest child was born with encephalocele and a facial cleft, which required surgery to correct at Boston Children's ...
... is a type of neural tube defect related to but distinct from other types such as anencephaly and encephalocele. ...
Half of all children with WWS are born with encephalocele, which is a gap in the skull that will not seal. The meninges of the ...
... acalvaria is sometimes confused with anencephaly or encephalocele. A distinguishable difference is that with anencephaly, the ...
If dermoid cysts appear on the medial aspect, the possibility of an encephalocele becomes greater and should be considered ...
Exencephaly or encephalocele with facial clefts Thoraco and/or abdominoschisis and Limb defects. LBWC occurs in approximately ...
It was found, that neural tube defects in general, including spina bifida, and encephalocele had been occurring in Mexican- ...
... so that Holmes and Neurosurgeon Mr Patrick Lo were able to correct a rare cranio-facial abnormality called an encephalocele. ...
Encephalocele on the head of a two-year-old. Baby with encephalocele. Encephalocele. Neonate with encephalocele 1-year-old with ... Encephaloceles of the back of the head are more common in Europe and North America, while encephaloceles on the front of the ... Usually encephaloceles are noticeable deformities and are diagnosed immediately after birth, but a small encephalocele in the ... The severity of encephalocele varies, depending on its location. Encephaloceles are often accompanied by craniofacial ...
Encephalocele is a sac-like protrusion and projection of the brain and the membranes that cover it through an opening in the ... What is Encephalocele?. Encephalocele is a rare type of birth defect of the neural tube that affects the brain. The neural tube ... Usually encephaloceles are found right after birth, but sometimes a small encephalocele in the nose and forehead region can go ... depending on the location of the encephalocele and the parts of the head and face that were affected by the encephalocele. ...
Encephalocele represents one end of the spectrum of open neural tube diagnoses. With ultrasonography (US) scanning, the ... A true frontal encephalocele is seen as an extrinsic mass near the dorsum of the nose, orbits, or forehead. Such encephaloceles ... Encephalocele represents one end of the spectrum of open neural tube diagnoses. The incidence of encephalocele is estimated at ... 13] A high cervical meningocele also can mimic an encephalocele. A frontal encephalocele may be mistaken for a nasal teratoma; ...
Right Sided Cerebellar Ataxia with Occipital Encephalocele (Arnold -Chiari Type III Malformation) ... Right Sided Cerebellar Ataxia with Occipital Encephalocele (Arnold -Chiari Type III Malformation). Full Text ... He also had occipital encephalocele at birth for which he was operated on day 2 of life. On examination, signs of cerebellar ... Kaur P, Singh J, Kaur M. Right Sided Cerebellar Ataxia with Occipital Encephalocele (Arnold -Chiari Type III Malformation). ...
Whilst in the active second stage following delivery of the breech the encephalocele self-decompressed under the pressure of ... A 32 week scan showed a large encephalocele with minimal brain tissue, a head circumference of 420mm, severe oligohydramnios ... This case is unique because the encephalocele self-decompressed, reducing maternal distress and avoiding the morbidity ... Meckel gruber syndrome: a vaginal breech delivery facilitated by encephalocele self-decompression ...
Encephalocele - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD Manuals - Medical Professional ... Small encephaloceles may resemble cephalohematomas, but x-rays show a bony skull defect at the base of the encephalocele. ... Symptoms and Signs of Encephalocele Symptoms and signs of encephalocele include the visible defect, seizures, and impaired ... Encephaloceles usually occur in the midline and protrude anywhere along a line from the occiput to the nasal passages but can ...
Encephalocele represents one end of the spectrum of open neural tube diagnoses. With ultrasonography (US) scanning, the ... A true frontal encephalocele is seen as an extrinsic mass near the dorsum of the nose, orbits, or forehead. Such encephaloceles ... 5] A high cervical meningocele also can mimic an encephalocele. A frontal encephalocele may be mistaken for a nasal teratoma; ... In one example of a fatal encephalocele, the encephalocele herniated through the clivus into the oropharynx. This appeared as a ...
What are the causes of encephalocele?. In many cases the cause of the encephalocele cannot be found. Encephalocele is part of a ... How do you fix occipital encephalocele?. *Can a baby survive occipital encephalocele?*What are frontoethmoidal encephaloceles? ... Can a baby survive occipital encephalocele?. Babies with an encephalocele at the back of the head have a 55 percent survival ... What are frontoethmoidal encephaloceles?. Frontoethmoidal encephaloceles manifest as a clinically visible mass along with the ...
Encephalocele Encephalocele is an open neural tube defect (NTD) that is most often present at birth. Normally, the neural tube ... Encephalocele happens when the tube does not fully close during pregnancy. This causes the brain, and the membranes that cover ...
A case of adult basal encephalocele is diagnosed after physicians investigate the presence of minor anomalies. ... Acquired cases of basal encephalocele have been reported in adults;[10] the pathology of basal encephalocele in adults has not ... Basal encephalocele is an uncommon congenital malformation occurring in one in 35,000 to 40,000 live births.[1] Brain tissue ... Introduction Basal encephalocele is rare in adults. Congenital and acquired cases have been reported with regard to the ...
Temporal Bone Encephaloceles: Utility of Preoperative Imaging. Otolaryngology - Head and Neck Surgery. 2020 Sep 1;163(3):577- ... Temporal Bone Encephaloceles: Utility of Preoperative Imaging. Douglas M. Worrall, Akila Pai, Jonathan C. Garneau, Enrique R. ... Temporal Bone Encephaloceles: Utility of Preoperative Imaging. / Worrall, Douglas M.; Pai, Akila; Garneau, Jonathan C. et al. ... Temporal Bone Encephaloceles : Utility of Preoperative Imaging. In: Otolaryngology - Head and Neck Surgery. 2020 ; Vol. 163, No ...
optic nerve coloboma, Morning Glory Syndrome, encephalocele Description. Morning glory with associated encephalocele protruding ...
This case report aimed to mention encephalocele as another complication, which has not been reported for the CDH. ... presenting with encephalocele in the occipital region. Case report: The newborn was delivered by a 38-year-old mother from ... Are encephaloceles neural tube defects? Pediatrics. 2006; 118(3):916-23. 9. Skari H, Bjornland K, Haugen G, Egeland T, Emblem R ... This case report aimed to mention encephalocele as another complication, which has not been reported for the CDH. ...
Dive into the research topics of Term newborn with microphthalmia, encephalocele and linear skin defect. Together they form a ...
... occipital encephalocele, cleft palate, and multiple polyps in the tongue. The presence of occipital encephalocele, cleft palate ... MEGALENCEPHALY, POLYMICROGYRIA, POLYDACTYLY AND HYDROCEPHALUS (MPPH) SYNDROME: A NEW CASE WITH OCCIPITAL ENCEPHALOCELE AND ... Megalencephaly, polymicrogyria, polydactyly and hydrocephalus (MPPH) syndrome: a new case with occipital encephalocele and ...
... encephalocele and craniorachischisis, as well as teratomas, goiter, lymphangioma, and some syndromes. Use programme rules (SOPs ... variably combined with occipital encephalocele or rachischisis of the cervical or thoracic spine. ... Some infants also have an occipital encephalocele. ... Presence or absence of occipital encephalocele.. *Presence or ...
Radiologic imaging demonstrated occipital encephalocele or meningocele in 3 patients, occipital skull defects in 4 patients, ... and occipital encephalocele, but it is now known to have an increasingly variable phenotype. There is a lack of reported ...
Encephaloceles. A child with myelomeningocele may also have other disorders or birth defects. Eight out of ten children with ...
Airway management for occipital encephalocele in neonatal patients: A review of 17 cases ... Encephaloceles are a type of the congenital malformation seen commonly. Occipital encephaloceles represent approximately 85% of ... The incidence of encephalocele is 1 per 5000 live births.[2] The incidence of encephalocele is reported to vary in different ... Manhas Y, Chinnan NK, Singh AK, . Neonatal airway management in occipital encephalocele. Anesth Analg. 2006;103:1632. [Google ...
Traumatic intraorbital encephaloceles due to orbital roof fractures developing in the early posttraumatic period are even rarer ... Long-Term Results of Orbital Roof Repair with Titanium Mesh in a Case of Traumatic Intraorbital Encephalocele: A Case Report ... We report a case of intraorbital encephalocele developing in the early posttraumatic period (2 days) in a child patient and the ... Keywords: intraorbital encephalocele, titanium mesh, reconstruction, BLOW-IN FRACTURES, INJURIES, SKULL * Karadeniz Technical ...
A fissure of the skull and a projecting brain known as encephalocele ...
Cranium bifidum, such as an encephalocele, is much more serious. Encephaloceles are theorized to occur when the anterior ... shunt after the removal of their encephaloceles. Children whose encephaloceles contain large quantities of cerebral cortex ... In contradistinction, most encephaloceles in Asia are ventral and involve the frontal bone. In the Philippines and other ... Neonate with a large occipital encephalocele lying in the prone position prior to surgical intervention. Note the large skin- ...
Encephalocele (see under Cephalocele). Hydranencephaly. Hydrocephalus -see Ventriculomegaly. Idiopathic subependymal pseudocyst ...
3 "3D-printed Models Assist Complex Brain Surgery for Encephalocele;" Boston Childrens, June 30, 2016; 3D-printed models ... assist complex brain surgery for encephalocele. 4 "Rush to Become First 5G Hospital System in U.S.;" Healthcare IT News, ...
Developmental abnormalities (eg, encephaloceles, dermoid cysts) also may cause obstruction.. Patients with laryngectomies or ...
Temporal bone encephaloceles. Current opinion in otolaryngology & head and neck surgery, 13 5, 287-9 ...
  • [ 2 ] Pregnant women exposed to Zika virus are at risk for significant fetal brain malformation including encephalocele. (medscape.com)
  • Arnold Chiari malformation type III is associated with occipital encephalocele (containing neuroectodermal tissue), hydrocephalus, tethered cord, elongation of the fourth ventricle, failure of development of pontine flexure and kinking of the brainstem, pons, inferior vermis. (pediatriconcall.com)
  • 2 Contents of encephalocele in Chiari malformation III is usually non-functional and contains necrosis of neural tissue, gliosis, fibrosis, meningeal inflammation, cerebral or cerebellar tissue, ventricles, and reactive astrocytes. (pediatriconcall.com)
  • Basal encephalocele is an uncommon congenital malformation occurring in one in 35,000 to 40,000 live births. (medscape.com)
  • An encephalocele is cystic congenital malformation in which central nervous system structures herniated through a defect in the cranium in communication with cerebrospinal fluid pathways. (ruralneuropractice.com)
  • Two of the cases showed heterotopias and malformations in cortical development, and one showed parietal encephalocele, Chiari II malformation, and microcephaly. (medpagetoday.com)
  • An encephalocele is caused by incomplete closure of the cranial vault (cranium bifidum). (msdmanuals.com)
  • Cranial defects that are associated with encephaloceles usually occur in the midline of the skull and appear anywhere from the base of the nose to the base of the occipital bone. (medscape.com)
  • Cranial defects occurring in association with encephaloceles (see the image below) have a nonspecific appearance. (medscape.com)
  • Encephalocele, midline defect of cranial bone fusion, occurs most frequently in the occipital region. (ruralneuropractice.com)
  • Encephalocele is a neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. (wikipedia.org)
  • Encephalocele is a rare type of birth defect of the neural tube that affects the brain. (cdc.gov)
  • An encephalocele is a protrusion of nervous tissue and meninges through a skull defect. (msdmanuals.com)
  • Symptoms and signs of encephalocele include the visible defect, seizures, and impaired cognition, including intellectual and developmental disability. (msdmanuals.com)
  • Small encephaloceles may resemble cephalohematomas, but x-rays show a bony skull defect at the base of the encephalocele. (msdmanuals.com)
  • Encephalocele is an open neural tube defect (NTD) that is most often present at birth. (choa.org)
  • Iniencephaly is a rare and complex neural tube defect (NTD) involving the occiput and inion, resulting in extreme retroflexion of the head, variably combined with occipital encephalocele or rachischisis of the cervical or thoracic spine. (cdc.gov)
  • Encephalocele (code although contiguous defect). (cdc.gov)
  • Sierra Yoder told ABC News that Bentley was diagnosed in utero with encephalocele, a neural tube defect that keeps the skull from fully closing, and as a result, leaves the brain protruding from the head. (abc15.com)
  • Amelia, like so many of our children, was born with a birth defect called an encephalocele. (bandbacktogether.com)
  • In the basal encephalocele, a congenitally malformed outpouching of the meninges, often containing the optic chiasm and hypothalamus, protrudes through a defect in the sphenoid bone. (aao.org)
  • 8 years) mortality risk was found among children born to Asian/Pacific Islander mothers for encephalocele (HR 2.6), tetralogy of Fallot, and atrioventricular septal defect (HRs 1.6-1.8) and among children born to American Indian/Alaska Native mothers for encephalocele (HR 2.8), whereas a significantly decreased childhood mortality risk was found among children born to Asian/Pacific Islander mothers for cleft lip with or without cleft palate (HR 0.6). (cdc.gov)
  • Although the exact cause is unknown, encephaloceles are caused by failure of the neural tube to close completely during fetal development. (wikipedia.org)
  • Sagittal ultrasonogram through the fetal skull shows a small occipital encephalocele. (medscape.com)
  • Although prenatal diagnosis of fetal encephalocele and its associated anomalies has been achieved by using computed tomography (CT) scans, the use of radiation for diagnosis in fetuses is discouraged, particularly in the first 2 trimesters. (medscape.com)
  • Diagnosis may be made on fetal ultrasonography showing occipital encephalocele and dysplastic kidneys. (orpha.net)
  • Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele. (bvsalud.org)
  • citation needed] Occipital encephaloceles are frequently accompanied by hydrocephalus, as seen in 60-90% of patients. (wikipedia.org)
  • Megalencephaly, polymicrogyria, polydactyly and hydrocephalus (MPPH) syndrome: a new case with occipital encephalocele and cleft palate: The megalencephaly, polymicrogyria, polydactyly, and hydrocephalus (MPPH) syndrome is quite rarely seen. (yyu.edu.tr)
  • Encephaloceles cause a groove down the middle of the skull, or between the forehead and nose, or on the back side of the skull. (wikipedia.org)
  • Encephalocele is a sac-like protrusion or projection of the brain and the membranes that cover it through an opening in the skull. (cdc.gov)
  • An encephalocele at the back of the skull is more likely to cause nervous system problems, as well as other brain and face defects. (cdc.gov)
  • Encephalocele is treated with surgery to place the protruding part of the brain and the membranes covering it back into the skull and close the opening in the skull. (cdc.gov)
  • On computed tomography, brain tissue protruded through a part of the ethmoid bone of his right anterior skull base, and it was diagnosed as transethmoidal-type basal encephalocele. (medscape.com)
  • Radiologic imaging demonstrated occipital encephalocele or meningocele in 3 patients, occipital skull defects in 4 patients, minor occipital changes in 2 patients, and no abnormalities in 2 patients. (nih.gov)
  • Typical procedure in an encephalocele case is to cut off the part of the brain outside of the skull and then close the skull. (abc15.com)
  • Encephaloceles are more common in individuals who have a family history of neural tube defects such as spina bifida or anencephaly . (medscape.com)
  • Iniencephaly may be difficult to diagnose by ultrasound and can be confused with other defects involving the brain and spine - anencephaly, encephalocele and craniorachischisis, as well as teratomas, goiter, lymphangioma, and some syndromes. (cdc.gov)
  • Neural tube defects--including spina bifida, anencephaly, and encephalocele--are common, serious birth defects that are important causes of infant mortality and disability (1). (cdc.gov)
  • Similarly, positive aORs were observed for any exposure and cumulative exposure to insecticides + herbicides + fungicides and anencephaly alone and encephalocele alone. (cdc.gov)
  • They include spina bifida, anencephaly and with a labour facility in Gorgan, the capital encephalocele and are an important cause of of Golestan province in the north of the perinatal morbidity and mortality [ 2 ]. (who.int)
  • Usually encephaloceles are noticeable deformities and are diagnosed immediately after birth, but a small encephalocele in the nasal or forehead region can go undetected. (wikipedia.org)
  • Usually encephaloceles are found right after birth, but sometimes a small encephalocele in the nose and forehead region can go undetected. (cdc.gov)
  • According to a study of 57 patients with suspected temporal bone encephalocele, CT scans were less sensitive than MRI. (medscape.com)
  • MRI had a 58% sensitivity, 100% specificity, 100% positive predictive value, and 24% negative predictive value for detecting temporal bone encephalocele. (medscape.com)
  • Worrall et al concluded that CT and MRI can provide complementary information that may aid surgical planning but that imaging cannot always rule out temporal bone encephalocele. (medscape.com)
  • Objective: To determine the diagnostic efficacy and clinical value of preoperative computed tomography (CT) and magnetic resonance imaging (MRI) among patients with suspected temporal bone encephaloceles (TBE). (mssm.edu)
  • Introduction Basal encephalocele is rare in adults. (medscape.com)
  • Case presentation We encountered an adult with basal encephalocele strongly suggesting congenital development because of the presence of minor anomalies: strabismus and ocular hypertelorism. (medscape.com)
  • Therefore, it may be necessary to examine minor anomalies in cases of adult basal encephalocele when considering the possibility that the disease may be congenital. (medscape.com)
  • [ 2 ] Several mechanisms have been proposed to explain the occurrence of basal encephalocele. (medscape.com)
  • [ 2 , 3 ] By contrast, basal encephalocele diagnosed in adulthood is difficult to diagnose in childhood because abnormalities of the countenance are lacking, and it is incidentally found with spontaneous cerebrospinal fluid rhinorrhea in many cases. (medscape.com)
  • [ 10 ] the pathology of basal encephalocele in adults has not yet been elucidated. (medscape.com)
  • What is the appearance of basal encephaloceles? (motelmexicolabali.com)
  • Basal encephaloceles are internal and are not generally externally visible, although they may manifest as a lump or bump in the oropharynx or nasopharynx. (motelmexicolabali.com)
  • The morning glory disc anomaly can be seen with transsphenoidal basal encephalocele. (aao.org)
  • [4] Brain imaging (MRI, MRA and/or CTA) should be done to rule out CNS involvement, including basal encephalocele, Moyamoya and other structural or vascular abnormalities. (aao.org)
  • [3] Surgical correction of the transsphenoidal basal encephalocele can be extremely difficult or even contraindicated due to the vital structures that may be found in the herniation, including the optic chiasm, the hypothalamus, and the anterior cerebral artery. (aao.org)
  • [ 5 , 6 ] With US scanning, the diagnosis is based on the herniation of a spherical, fluid-filled structure, more correctly diagnosed as a meningocele or brain parenchyma (encephalocele) beyond the calvarial confines. (medscape.com)
  • the most common location for encephaloceles is the occipital region. (wikipedia.org)
  • This is a case report regarding a 2051-gram female newborn affected by right-sided congenital diaphragmatic hernia (CDH) presenting with encephalocele in the occipital region. (ac.ir)
  • A series of steps involved in reconstructive surgery of a frontal encephalocele. (wikipedia.org)
  • Encephaloceles usually occur in the midline and protrude anywhere along a line from the occiput to the nasal passages but can be present asymmetrically in the frontal or parietal regions. (msdmanuals.com)
  • The intracranial root of most frontoethmoidal encephaloceles lies at the foramen cecum, a small ostium located at the bottom of a small depression anterior to the crista galli and formed by the closure of the frontal and ethmoid bones. (motelmexicolabali.com)
  • La mayoría de los encefaloceles congénitos ocurren en las regiones occipital o frontal. (bvsalud.org)
  • The majority of congenital encephaloceles occur in the occipital or frontal regions. (bvsalud.org)
  • Meckel-Gruber Syndrome (MGS) is a rare, lethal, autosomal recessive condition characterised by renal-cystic dysplasia, an encephalocele and polydactyly. (bmj.com)
  • Meckel-Gruber syndrome (MKS) is a lethal, rare, autosomal recessive condition characterized by the triad of occipital encephalocele, large polycystic kidneys, and postaxial polydactyly. (medscape.com)
  • Encephalocele, cystic kidneys and polydactyly may be detected. (orpha.net)
  • Encephalocele is part of a group of nervous system disorders called neural tube defects. (motelmexicolabali.com)
  • Are encephaloceles neural tube defects? (ac.ir)
  • Research has indicated that teratogens (substances known to cause birth defects), trypan blue (a stain used to color dead tissues or cells blue), and arsenic may damage the developing fetus and cause encephaloceles. (wikipedia.org)
  • Several factors appear to lead to lower survival rates for infants with encephalocele, including preterm (early) birth, low birthweight, having multiple birth defects, or being black or African American. (cdc.gov)
  • CDC continues to study birth defects, such as encephalocele, and how to prevent them. (cdc.gov)
  • For example, taking 400 micrograms of the B vitamin, folic acid , every day before and during early pregnancy can help prevent some major birth defects of the baby's brain and spine, such as encephalocele. (cdc.gov)
  • Ultrasonograms show oligohydramnios-enlarged echogenic kidneys (left) and a fairly large occipital encephalocele containing brain tissue (right). (medscape.com)
  • Encephaloceles are often accompanied by craniofacial abnormalities or other brain malformations. (wikipedia.org)
  • Once an encephalocele is diagnosed, a thorough search for associated abnormalities should be performed. (medscape.com)
  • We reviewed the charts of occipital encephalocele newborn that were treated by surgical correction in Harran University Hospital during 2006-2008. (ruralneuropractice.com)
  • However, CT scanning is less capable than magnetic resonance imaging (MRI) in depicting soft-tissue components in an encephalocele. (medscape.com)
  • Diagnosis of encephalocele may be made by routine prenatal ultrasonography. (msdmanuals.com)
  • Encephalocele happens when the neural tube does not close completely during pregnancy. (cdc.gov)
  • 2 ] The incidence of encephalocele is reported to vary in different parts of the world depending on the geographic region, gender of the affected infants, and nutritional supplementation during pregnancy, maternal age and parity. (ruralneuropractice.com)
  • Neonate with encephalocele 1-year-old with encephalocele and possible microcephaly, 1928 Since its earliest cited case in the 16th century, many generations of scientists have attempted to explain the cause. (wikipedia.org)
  • Neurodevelopmental symptoms that result from an encephalocele often persist even after its surgical removal because the normal developmental sequence of brain structure and neural network formation was disrupted. (msdmanuals.com)
  • Surgical correction of an encephalocele can be achieved without causing any further functional disability, even in cases of large encephaloceles. (motelmexicolabali.com)
  • Siffel C, Wong LC, Olney RS, Correa A. Survival of infants diagnosed with encephalocele in Atlanta, 1978-98. (cdc.gov)
  • Some infants also have an occipital encephalocele. (cdc.gov)
  • Morning glory with associated encephalocele protruding into nasopharynx. (asrs.org)
  • Encephalocele represents one end of the spectrum of open neural tube diagnoses. (medscape.com)
  • Radionuclide ventriculography and/or cisternography have been used postnatally to demonstrate the intracranial extension of an encephalocele. (medscape.com)
  • Encephaloceles may also occur internally, eg, at the anterior pole of the temporal lobe, and may be discovered only later in life during evaluation for associated neurodevelopmental symptoms such as epilepsy. (msdmanuals.com)
  • Other malformations and/or chromosomal anomalies are noted in at least 60% of patients with encephalocele. (medscape.com)
  • The incidence of encephalocele is estimated at 0.95 in 10,000 live births. (medscape.com)
  • 1 ] The incidence of encephalocele is 1 per 5000 live births. (ruralneuropractice.com)
  • Leur incidence en Afrique sub-saharienne et plus particulièrement au Gabon est mal connue. (bvsalud.org)
  • An encephalocele results from failure of the surface ectoderm to separate from the neuroectoderm. (medscape.com)
  • How Many Babies are Born with Encephalocele? (cdc.gov)
  • Researchers estimate that about 1 in every 10,500 babies is born with encephalocele in the United States. (cdc.gov)
  • Impact the health outcomes of babies with encephalocele. (cdc.gov)
  • Babies with an encephalocele at the back of the head have a 55 percent survival rate. (motelmexicolabali.com)
  • The Centers for Disease Control and Prevention (CDC) reports that each year that about 375, or 1 in every 10,000 babies born in the U.S., will have encephalocele. (choa.org)
  • Traumatic intraorbital encephaloceles due to orbital roof fractures developing in the early posttraumatic period are even rarer. (ktu.edu.tr)
  • Beside the facial dysmorphism and four main features of the MPPH syndrome, the findings on the physical examination of the patient were, hypertonicity, occipital encephalocele, cleft palate, and multiple polyps in the tongue. (yyu.edu.tr)
  • Knobloch syndrome is a rare, recessively inherited disorder classically characterized by high myopia, retinal detachment, and occipital encephalocele, but it is now known to have an increasingly variable phenotype. (nih.gov)
  • Cardiac repair or neurosurgical intervention for encephalocele may be warranted in patients with Meckel-Gruber syndrome. (medscape.com)
  • Various physical and mental developmental delays can indicate the presence of encephaloceles. (wikipedia.org)
  • The presence of occipital encephalocele, cleft palate, and polyps in the tongue in this patient was not reported previously in the literature. (yyu.edu.tr)
  • Presence or absence of occipital encephalocele. (cdc.gov)
  • citation needed] A neonate with a large encephalocele. (wikipedia.org)
  • A 32 week scan showed a large encephalocele with minimal brain tissue, a head circumference of 420mm, severe oligohydramnios and a breech presentation. (bmj.com)
  • A disturbance in this separation process at the final closure due to the lack of apoptosis is considered to be a critical aspect of nasofrontal and nasoethmoidal encephalocele. (wikipedia.org)
  • Il n'y a pas eu d'études sur l'incidence des anomalies du tube neural en Jordanie. (who.int)
  • Recovery is difficult to predict prior to surgery, and depends on the type of brain tissue involved and location of the encephaloceles. (wikipedia.org)
  • Thanks to medical 3D printing, surgeons have treated a young baby with an encephalocele: a rare disorder where part of the fetus's brain starts growing outside its head in the womb. (materialise.com)
  • [4] Many patients with transsphenoidal encephalocele also have callosal agenesis, leading to dilation of the lateral ventricles. (aao.org)
  • Il s'agit d'une étude rétrospective descriptive et analytique, multicentrique portant sur des patients de moins de 5ans pris en charge pour une affection neurochirurgicale de Janvier 2019 à Décembre 2021 à Libreville. (bvsalud.org)
  • The most common etiologies were myelomeningocele (32 percent), congenital idiopathic (30 percent), post-infectious (26 percent), and encephalocele (4 percent). (harvard.edu)
  • This case is unique because the encephalocele self-decompressed, reducing maternal distress and avoiding the morbidity associated with a caesarean section. (bmj.com)
  • however, cerebral angiography is rarely used in the evaluation of an encephalocele. (medscape.com)
  • Moreover, plain radiographs rarely provide diagnostic information regarding the contents of an encephalocele. (medscape.com)