A congenital condition where the greater portions of the cerebral hemispheres and CORPUS STRIATUM are replaced by CSF and glial tissue. The meninges and the skull are well formed, which is consistent with earlier normal embryogenesis of the telencephalon. Bilateral occlusions of the internal carotid arteries in utero is a potential mechanism. Clinical features include intact brainstem reflexes without evidence of higher cortical activity. (Menkes, Textbook of Child Neurology, 5th ed, p307)
A species in the ORTHOBUNYAVIRUS genus of the family BUNYAVIRIDAE family. Previously a large group of serotypes, most are now considered separate species.
Persistent flexure or contracture of a joint.
Virus diseases caused by the BUNYAVIRIDAE.
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)

The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1. (1/18)

We studied a large consanguineous Anatolian family with children who exhibited hydranencephaly associated with microcephaly. The children were severely affected. This novel genetic disorder is autosomal recessive. We used autozygosity mapping to identify a locus at chromosome 16p13.3-12.1; it has a LOD score of 4.11. The gene locus is within a maximal 11-cM interval between markers D16S497 and D16S672 and within a minimal critical region of 8 cM between markers D16S748 and D16S490.  (+info)

First-trimester features of Fowler syndrome (hydrocephaly-hydranencephaly proliferative vasculopathy). (2/18)

We describe the features of Fowler syndrome (proliferative vasculopathy and hydrocephaly-hydranencephaly) diagnosed in the first trimester. The pregnancy with no significant family history was referred for karyotyping and ultrasound examination after a cystic hygroma was seen at 12 weeks. At 13 weeks, ultrasound examination revealed hydrocephaly-hydranencephaly, fetal akinesia, and arthrogryposis associated with increased nuchal translucency. The parents opted for termination of pregnancy and the diagnosis of Fowler syndrome was confirmed by pathological examination of the fetus. Calcified necrotic lesions and proliferative vasculopathy were observed in the entire central nervous system including the brainstem and spinal cord. Cases previously reported in siblings suggest an autosomal recessive transmission but specific genetic antenatal diagnosis is not yet available. The diagnosis of proliferative vasculopathy and hydrocephaly-hydranencephaly (Fowler syndrome) should be considered whenever hydrocephaly-hydranencephaly associated with a fetal akinetic sequence are encountered at the end of the first trimester. Genetic counseling is recommended.  (+info)

Arthrogryposis, hydranencephaly and cerebellar hypoplasia syndrome in neonatal calves resulting from intrauterine infection with Aino virus. (3/18)

To determine the teratogenic potential of Aino virus (AINOV) in cattle, pregnant cows and fetal cattle were infected with a fresh isolate of AINOV. Five pregnant cows were inoculated intravenously with the virus at 122 to 162 days of gestation and allowed to give birth. All of the cows developed neutralizing antibodies to the virus, indicating that the cows had been infected with the virus; however, no clinical abnormalities were seen in their six newborn calves, and no specific antibodies to the virus were detected in the precolostral serum of calves. Five fetuses with fetal ages ranging from 132 to 156 days were inoculated in utero with the virus. One weak newborn and four stillborn calves were delivered at gestation days 256 to 263, i.e., less than the standard gestation term; they had congenital abnormalities including arthrogryposis, hydranencephaly and cerebellar hypoplasia. Antibodies specific to AINOV were detected in their precolostral serum. These results demonstrate that AINOV is a potential etiological agent of congenital malformation of cattle.  (+info)

Residual visual function after loss of both cerebral hemispheres in infancy. (4/18)

PURPOSE: To investigate whether and what kind of visual function is still present in the absence of both cerebral hemispheres. METHODS: Binocular visual function of five children who had suffered the loss of both cerebral hemispheres and the visual fields of 30 controls 5 to 12 months of age were examined according to a perimetric method based on forced-choice, preferential-looking methods. RESULTS: Results show that after the destruction of both cerebral hemispheres, a stimulus presented binocularly beyond 5 degrees eccentricity did not elicit a response. However, two children were still able to fixate steadily and to follow a stimulus presented binocularly within the central 5 degrees , with eye and head movements despite the absence of both cerebral hemispheres. One child responded only to a moving face or a moving drum with black and white stripes presented binocularly within the central 5 degrees but not to a moving spot of light. The binocular visual field of 30 controls 5 to 12 months of age almost reached the dimensions of the adult binocular visual field. CONCLUSIONS: Neural structures in the midbrain, including the superior colliculi and the pretectum, seem to be able to mediate visual function in the foveal and macular regions. These structures are, however, unable to mediate the presence of a functional visual field beyond 5 degrees eccentricity.  (+info)

Idiopathic hypereosinophilia syndrome with loeffler endocarditis, embolic cerebral infarction, and left hydranencephaly: a case report. (5/18)

PURPOSE: Idiopathic hypereosinophilia syndrome (iHES) is classically defined as prolonged peripheral eosinophilia and multiple organ involvement. The involvement of the heart can lead to intraventricular thrombus because of infiltration of the endomyocardium by eosinophils. Cerebral infarction has been ascribed to thromboembolic events originating from intraventricular thrombus. CASE REPORT: A 67 year-old woman with hypereosinophilia for 6 months presented acute weakness of the right limbs. Left hydranencephaly and absence of the left internal carotid artery were found on brain computed tomography. Brain magnetic resonance imaging (MRI) showed multiple infarctions at bilateral hemispheres. An intraventricular thrombus was detected both in transesophageal echocardiography and in heart MRI. Hypereosinophilia responded well to steroid use and warfarin was used for stroke prevention. CONCLUSIONS: Complete evaluation of systemic involvement in iHES is mandatory and early intervention may prevent deterioration of this disease. Both cardiogenic embolism and endothelial damage related to circulating eosinophils may contribute to the occurrence of stroke in this patient.  (+info)

Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). (6/18)

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Congenital hydranencephaly and cerebellar hypoplasia in water buffalo in southern Brazil. (7/18)

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Prenatal sonography in hydranencephaly: findings during the early stages of disease. (8/18)

The purpose of this report is to describe the prenatal sonographic findings in fetuses with hydranencephaly diagnosed during the early stages of disease. Four cases with characteristics of hydranencephaly were retrospectively identified from 2 Latin American fetal medicine referral centers. Information on maternal demographics, sonographic findings, antenatal courses, and pregnancy outcomes was retrieved from the ultrasound reports and medical records. Cases were diagnosed between 21 and 23 weeks' gestation. The sonographic findings were similar in all cases and included absent cerebral hemispheres, which were replaced by homogeneous echogenic material filling the supratentorial space, and preservation of the thalami, brain stem, and cerebellum. The head circumference measurement was within the normal range, but the transverse cerebellar diameter was below the fifth percentile in 3 of the 4 cases. A follow-up scan in 1 of these cases demonstrated the classic anechoic fluid-filled appearance of hydranencephaly 2 weeks after diagnosis. Confirmation of the diagnosis was available in 2 cases, by postmortem examination in 1 and by fetal magnetic resonance imaging in the other. No further investigations were performed in the 2 women who opted for termination of pregnancy. In conclusion, during the early stages of disease, hydranencephaly is characterized by the presence of a large intracranial saclike structure containing homogeneous echogenic material, representing blood and necrotic debris secondary to massive liquefaction of the developing cerebral hemispheres.  (+info)

Hydranencephaly is a rare congenital condition in which the cerebral hemispheres of the brain are absent and replaced by sacs filled with cerebrospinal fluid (CSF). The cerebral cortex and other parts of the brain may be partially or completely missing. It is often caused by vascular insults or infections, such as ischemia or meningitis, during fetal development.

The condition can vary in severity, but it is generally associated with severe neurological impairment and physical disabilities. Infants with hydranencephaly may have a normal appearance at birth, but they often develop seizures, hydrocephalus, and other symptoms within the first few months of life. The prognosis for individuals with hydranencephaly is generally poor, and many do not survive beyond early childhood.

Simbu virus, also known as SIMBU or SV, is an arbovirus (arthropod-borne virus) from the family *Phenuiviridae*, genus *Seadornavirus*. It is primarily maintained in a transmission cycle between mosquitoes and ruminant animals such as cattle, sheep, and goats. The virus can cause asymptomatic or mild illness in humans, with symptoms like fever, headache, muscle pain, and rash. However, severe disease or long-term complications are rare.

Simbu virus is geographically widespread across Africa, Asia, Australia, and the Pacific islands. It is transmitted to humans through the bite of infected mosquitoes, mainly from the genus *Culex*. The virus has been isolated from various mosquito species, indicating its broad host range.

Research on Simbu virus is essential for understanding its ecology, transmission dynamics, and potential impacts on human health. It also provides insights into the evolution and emergence of related viruses in the family *Phenuiviridae*.

Arthrogryposis is a medical term that describes a condition characterized by the presence of multiple joint contractures at birth. A contracture occurs when the range of motion in a joint is limited, making it difficult or impossible to move the joint through its full range of motion. In arthrogryposis, these contractures are present in two or more areas of the body.

The term "arthrogryposis" comes from two Greek words: "arthro," meaning joint, and "gyros," meaning curved or bent. Therefore, arthrogryposis literally means "curving of the joints."

There are many different types of arthrogryposis, each with its own specific set of symptoms and causes. However, in general, arthrogryposis is caused by decreased fetal movement during pregnancy, which can be due to a variety of factors such as genetic mutations, nervous system abnormalities, or environmental factors that restrict fetal movement.

Treatment for arthrogryposis typically involves a combination of physical therapy, bracing, and surgery to help improve joint mobility and function. The prognosis for individuals with arthrogryposis varies depending on the severity and type of contractures present, as well as the underlying cause of the condition.

Bunyaviridae is a family of viruses that includes several genera capable of causing human disease. These viruses are primarily transmitted to humans through the bite of infected arthropods, such as mosquitoes and ticks, or through contact with infected rodents or their excreta.

Some of the diseases caused by Bunyaviridae infections include:

1. Hantavirus Pulmonary Syndrome (HPS): This is a severe, sometimes fatal, respiratory disease caused by hantaviruses. It is transmitted to humans through contact with infected rodents or their urine and droppings.
2. Crimean-Congo Hemorrhagic Fever (CCHF): This is a serious and often fatal viral hemorrhagic fever caused by the CCHF virus. It is primarily transmitted to humans through the bite of infected ticks, but can also be spread through contact with the blood or tissue of infected animals.
3. Rift Valley Fever (RVF): This is a viral disease that primarily affects animals, but can also infect humans. It is transmitted to humans through contact with the blood or tissue of infected animals, or through the bite of infected mosquitoes.
4. La Crosse Encephalitis: This is a viral disease transmitted to humans through the bite of infected mosquitoes. It primarily affects children and can cause inflammation of the brain (encephalitis).
5. Toscana Virus Infection: This is a viral disease transmitted to humans through the bite of infected sandflies. It can cause symptoms such as fever, headache, and meningitis.

Prevention measures include avoiding contact with rodents and their excreta, using insect repellent and wearing protective clothing to prevent mosquito and tick bites, and seeking prompt medical attention if symptoms of a Bunyaviridae infection develop.

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.

  • Hydranencephaly should not be confused with hydrocephalus, which is an accumulation of excess cerebrospinal fluid in the ventricles of the brain. (wikipedia.org)
  • However, diagnostic literature fails to provide a clear distinction between severe obstructive hydrocephalus and hydranencephaly, leaving some children with an unsettled diagnosis. (wikipedia.org)
  • Hydranencephaly is sometimes misdiagnosed as bilaterally symmetric schizencephaly (a less destructive developmental process on the brain), severe hydrocephalus (cerebrospinal fluid excess within the skull), or alobar holoprosencephaly (a neurological developmental anomaly). (wikipedia.org)
  • Because cerebrospinal fluid (CSF) diversion can successfully treat children with hydrocephalus, the distinction between hydranencephaly and hydrocephalus is critical. (medscape.com)
  • Because of the early age of gestation, hydranencephaly was difficult to distinguish from hydrocephalus. (medscape.com)
  • Although no normal variants mimic hydranencephaly, hydranencephaly and severe hydrocephalus may appear similar on CT scans owing to the fact that in both entities the falx is present and the thalami are unfused. (medscape.com)
  • [ 9 ] The brainstem is seen in hydranencephaly and hydrocephalus. (medscape.com)
  • The key to distinguishing hydrocephalus from hydranencephaly is the presence of a thin rim of residual cerebral cortical tissue in hydrocephalus that is not present in hydranencephaly. (medscape.com)
  • Hydranencephaly vs Hydrocephalus. (vdhmachines.com)
  • [ 1 ] Hydranencephaly occurs in less than 1 in 10,000 births and is characterized by near-total or total absence of the cerebral cortex and basal ganglia. (medscape.com)
  • 7: Substantial evidence indicates that children born missing the bulk of the cerebral cortex, those with hydranencephaly, nevertheless experience pain. (physiciansforlife.org)
  • Patients with hydranencephaly completely lack a cerebral cortex and white matter. (blogspot.com)
  • Hydranencephaly is a condition in which the brain's cerebral hemispheres are absent to a great degree and the remaining cranial cavity is filled with cerebrospinal fluid. (wikipedia.org)
  • Hydranencephaly: A condition in which the cerebral hemispheres of the brain are absent and replaced by sacs filled with cerebrospinal fluid. (vdhmachines.com)
  • Check out this awesome post: Light passes through infants head due to hydranencephaly, causing the absence of both brain hemispheres and a sac of cerebrospinal fluid in the cranial cavity. (vdhmachines.com)
  • citation needed] Hydranencephaly is an extreme form of porencephaly, which is characterized by a cyst or cavity in the cerebral hemispheres. (wikipedia.org)
  • Hydranencephaly is considered to be an extreme form of porencephaly (a rare disorder marked by a cyst or cavity in the cerebral hemispheres) and may be caused by vascular infections or traumatic disorders after the 12th week of pregnancy. (naturalcurefor.com)
  • Hydranencephaly is an extreme form of porencephaly in which the cerebral hemispheres are almost totally absent. (msdmanuals.com)
  • The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare autosomal recessive prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. (mendelian.co)
  • Hydranencephaly - In utero destruction of cerebral parenchyma with intact falx and preservation of posterior fossa structures. (vdhmachines.com)
  • Hydranencephaly is an extremely rare anomaly of cerebral structures that occurs in-utero. (enpress-publisher.com)
  • These lesions can be regarded as part of a spectrum, the mildest being porencephaly and the most severe hydranencephaly. (neuropathology-web.org)
  • Hydranencephaly vs. ANENCEPHALY is a neural tube defect that occurs when the cephalic (head) end of the neural tube fails to close, usually between the 23rd and 26th days of pregnancy, resulting in the absence of a major portion of the brain, skull, and scalp. (vdhmachines.com)
  • Unlike in Anencephaly where the damage to the brain happens at conception, in Hydranencephaly the baby's brain develops normally until something happens to cut off the flow of blood to the baby's brain. (hku.hk)
  • There are two kinds of birth defects that leave a person without any cortex at all: hydranencephaly and anencephaly. (blogspot.com)
  • citation needed] Although the exact cause of hydranencephaly remains undetermined in most cases, the most likely general cause is by vascular insult, such as stroke, injury, intrauterine infections, or traumatic disorders after the first trimester of pregnancy. (wikipedia.org)
  • Hydranencephaly is one of several types of cephalic disorders. (vdhmachines.com)
  • In hydranencephaly, computed tomography (CT) scanning demonstrates an absence of most of the supratentorial structures, with preservation of the falx, thalami, and various amounts of the occipital lobes and basal ganglia (see the images below). (medscape.com)
  • Axial computed tomography (CT) scan demonstrates an intact falx and separate thalami that suggest a diagnosis of hydranencephaly. (medscape.com)
  • Computed tomography (CT) scan in a patient in whom another CT scan demonstrated an intact falx and separate thalami that suggested a diagnosis of hydranencephaly. (medscape.com)
  • Still other infants display no obvious symptoms at birth, going many months without a confirmed diagnosis of hydranencephaly. (wikipedia.org)
  • citation needed] Though hydranencephaly is typically a congenital disorder, it can occur as a postnatal diagnosis in the aftermath of meningitis, intracerebral infarction, ischemia, or a traumatic brain injury. (wikipedia.org)
  • In a HuffPost article telling her story, Zirlott recalls that even after the hydranencephaly diagnosis, "the doctor tells me that in spite of this, I cannot receive an abortion that will prevent this pain - both hers and my own. (pjmedia.com)
  • Brainstem seizures in hydranencephaly. (nih.gov)
  • In hydranencephaly, cyst formation usually is caused by massive interruption of the blood supply to the developing hemispheres after the 12th week of pregnancy. (msdmanuals.com)
  • We report a case of a 20-year-old pregnant woman from Salvador, Brazil whose fetus had developed hydrops fetalis, a condition where there is abnormal accumulation of fluid in the fetus, as well as severe central nervous system defects such as microcephaly and hydranencephaly. (fiocruz.br)
  • The intact falx in hydranencephaly differentiates it from alobar holoprosencephaly. (medscape.com)
  • Hydranencephaly is a central nervous system disorder characterized by an enlarged head and neurological deficits. (brainandnervecenter.com)
  • [ 4 ] Studies in sheep and monkeys have demonstrated that bilateral ligation of the carotid arteries results in destruction of the cerebral hemispheres, with relative preservation of the portions of the brain supplied by the posterior circulation, giving an appearance similar to that of hydranencephaly. (medscape.com)
  • Hydranencephaly is thought to arise from bilateral internal carotid artery occlusions with intact posterior circulation. (vdhmachines.com)
  • Hydranencephaly possesses isolated occurrences, affecting less than 1 in 10,000 births worldwide and officially classifying hydranencephaly as a rare disorder … Neurological exam. (vdhmachines.com)
  • Hydranencephaly (HE) is a rare congenital neurological disorder that usually occurs in the second trimester of gestation as a result of the destruction of the cerebral hemispheres. (accjournal.org)
  • The long-term treatment options and prognosis for a child born with hydranencephaly is usually poor. (theclarkfirmtexas.com)
  • Treatment of hydranencephaly is supportive and symptomatic. (naturalcurefor.com)
  • Treatment of hydranencephaly is supportive, with shunting if head growth is excessive. (msdmanuals.com)
  • The lethal components, absence of suprarenal glands and hydranencephaly, suggest either an unknown confounding factor or a more proximal deletion with an alternative interpretation of 7q--(q23.1----q36.1) rather than the apparent breakpoint at 7q32. (bmj.com)
  • Often hydranencephaly is diagnosed by prenatal ultrasonography. (msdmanuals.com)
  • Another cause factor is monochorionic twin pregnancies, involving the death of one twin in the second trimester, which in turn causes vascular exchange to the living twin through placental circulation through twin-to-twin transfusion, causing hydranencephaly in the surviving fetus. (wikipedia.org)
  • Ultrasonogram obtained at 14 weeks' gestation in a fetus with hydranencephaly shows unfused thalami surrounded by fluid. (medscape.com)
  • Sagittal image in a fetus with hydranencephaly at 14 weeks' gestation. (medscape.com)
  • Hydranencephaly is usually caused by a traumatic event to the fetus at around the 12th week of pregnancy. (theclarkfirmtexas.com)
  • Hydranencephaly describes the condition of extensive absence of cerebral tissue that is replaced by a saclike accumulation of fluid. (vdhmachines.com)
  • however, exposure to toxic substances during pregnancy likely increases hydranencephaly risk. (accjournal.org)
  • There is no curative treatment for hydranencephaly, beyond controlling the symptoms and providing psychological support to the family. (theclarkfirmtexas.com)
  • The patient was diagnosed with hydranencephaly, central diabetes insipidus and central hypothyroidism. (accjournal.org)
  • Hydranencephaly: A very rare condition where fluid replaces a portion of the brain. (vdhmachines.com)
  • Hydranencephaly is a deadly birth defect of the brain, in which fluid-filled sacs form instead of brain matter. (theclarkfirmtexas.com)
  • Hydranencephaly is a serious congenital birth defect of the brain, which means that it develops while the baby is in the womb and is present at birth. (theclarkfirmtexas.com)
  • Looking at the missing brain: hydranencephaly case series and literature review. (enpress-publisher.com)
  • Hydranencephaly: a rare cause of delayed developmental milestones. (enpress-publisher.com)
  • Sixteen-year-old Emily Raynor-Rogers was born with Hydranencephaly, a rare condition in which the brain's cerebral hemispheres are absent to varying degrees. (vsk.org.au)
  • An infant with hydranencephaly may appear normal at birth, and the infant's head size and spontaneous reflexes (such as sucking, swallowing, crying, and moving the arms and legs) may all seem normal. (naturalcurefor.com)
  • Likewise, children with conditions like hydranencephaly are conscious and psychologically perceive suffering and pain. (worldea.org)
  • Hydranencephaly is a recessive genetic condition, so both parents must carry the asymptomatic gene and pass it along to their child. (wikipedia.org)
  • There is a 25% chance that both parents will pass the gene to their child, resulting in hydranencephaly. (wikipedia.org)
  • A child born with hydranencephaly is not expected to live for more than one year, and there is no treatment. (theclarkfirmtexas.com)
  • An infant with hydranencephaly may appear normal at birth or may have some distortion of the skull and upper facial features due to fluid pressure inside the skull. (wikipedia.org)
  • An infant with hydranencephaly may appear normal at birth. (vdhmachines.com)

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