Hydranencephaly
Simbu virus
Anencephaly
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)
(+info)Congenital hydranencephaly and cerebellar hypoplasia in water buffalo in southern Brazil. (7/18)
(+info)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.