Familial porencephaly

Key words Disease name Definition Excluded diseases Epidemiology Clinical description Diagnostic methods Etiology Genetic counseling Antenatal diagnosis Management including treatment Prognosis References Abstract Porencephaly is a circumscribed intracerebral cavity of variable size which may be bordered by abnormal polymicrogyric grey matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly. The disease typically manifests in infants. The clinical manifestations of porencephaly depend on the location and the size of the lesion. Hemiplegic cerebral palsy is the commonest feature. Mental retardation and epilepsy are frequently found. According to their topography, which usually corresponds to territories supplied by cerebral arteries, porencephaly (like schizencephaly and polymicrogyria) is thought to result from an ischemic injury, occurring at mid-gestation. Most cases are sporadic. However, some observations of familial recurrences have been reported, suggesting that genetic factors could be involved. Search for mutations leading to a hypercoagulable state is under investigation. Recently, mutations in the COL4A1 gene have been described in four of the already published families with porencephaly and in one new unrelated family Familial porencephaly is a very rare condition usually transmitted as an autosomal dominant trait with incomplete penetrance. There is no specific treatment. Symptomatic treatment includes physical therapy, anti-epileptic drugs if epilepsy, and shunting procedures for treatment of hydrocephaly.