Familial porencephaly

Familial porencephaly: Description, Causes and Risk Factors: Familial porencephalyPorencephaly is a term which is used variably. Most broadly to a cleft of cystic cavity of the brain or more narrowly denotes a focal cystic area of encephalomalacia that communicates with the ventricles and/or the subarachnoid space. Familial porencephaly is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. In familial porencephaly, fluid-filled cysts develop in the brain (porencephaly) during fetal development or soon after birth. These cysts typically occur in only one side of the brain and vary in size. The cysts are thought to be the result of bleeding within the brain (hemorrhagic stroke). People with this condition also have leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI). Familial porencephaly is a rare condition, although the exact prevalence is unknown. At least eight affected families have been described in the scientific literature. Mutations in the COL4A1 gene cause familial porencephaly. The COL4A1 gene provides instructions for making one component of a protein called type IV collagen. Type IV collagen molecules attach to each other to form complex protein networks. These protein networks are the main components of basement membranes, which are thin sheet-like structures that separate and support cells in many tissues. Type IV collagen networks play an important role in the basement membranes in virtually all tissues throughout the body, particularly the basement membranes surrounding the body's blood vessels (vasculature). The COL4A1 gene mutations that cause familial porencephaly result in the production of a protein that disrupts the structure of type IV collagen. As a result, type IV collagen molecules cannot attach to each other to form the protein networks in basement membranes. Basement membranes without normal type IV collagen are unstable, leading to weakening of the tissues that they surround. In people with familial porencephaly, the vasculature in the brain weakens, which can lead to blood vessel breakage and hemorrhagic stroke. Bleeding within the brain is followed by the formation of fluid-filled cysts characteristic of this condition. It is thought that the pressure and stress on the head during birth contributes to vessel breakage in people with this condition; however in some individuals, bleeding in the brain can occur before birth. The prognosis for children with porencephaly varies according to the location and extent of the cysts or cavities. Some children with this disorder develop only minor neurological problems and have normal intelligence, while others may be severely disabled and die before their second decade of life. Symptoms: During infancy, people with familial porencephaly typically have paralysis affecting one side of the body (infantile hemiplegia). Affected individuals may also have recurrent seizures (epilepsy), migraine headaches, speech problems, intellectual disability, and uncontrolled muscle tensing (dystonia). Some people are severely affected, and others may have no symptoms related to the brain cysts. Diagnosis: Diagnosis may include: Ultrasound: On an antenatal ultrasound scan, these may be seen as one or more intracranial cysts that communicate with the ventricular system and/or subarachnoid space. There may also be asymmetrical ventricular with displacement of the midline ventricular echo.
  • CT: Porencephalic cysts appear as an intracranial cyst which has a well defined border and central attenuation the same as CSF. There is usually no mass effect on the adjacent parenchyma, although occasionally the cysts are enlarging and do result in local mass effect. There is no enhancement with contrast, and no solid component.
  • MRI: As with CT, appears well defined and often corresponds to a vascular territory. The cyst is lined by white matter, which may or may not demonstrate evidence of gliosis (this depends on the age at which the insult occurred). Importantly the cyst is not lined by grey matter, helpful in distinguishing them from arachnoid cysts and schizencephaly. Typically the cyst seen to communicate with the ventricles and/or the subarachnoid space.
Genetic Counseling: In the abscence of a positive family history and increased risk factors for a hypercoagulable state, the recurrence risk of porencephaly is very low as familial porencephaly is extremely rare. In case of positive family history, the mode of inheritance is autosomal dominant with reduced penetrance. Antenatal Diagnosis: Some cases may be diagnosed during pregnancy by fatal ultrasonography or MRI, usually in the third trimester. Treatment: There is no cure for porencephaly, but there are treatment options available to help the child reach their full developmental potential. Treatment options include physical therapy and speech therapy as well as, medication and the placement of a shunt to drain fluid from the brain. NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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