Familial porencephalic white matter disease in two generations.
We report the pedigree of a family in which a mother and her two children, a boy and a girl, all suffer from a similar, though variably expressed cerebral disorder, seen on CT as uni- or bilateral cavities within the supratentorial white matter in communication with the ventricular system. Additional white matter hypodensity around the lateral ventricles without ventricular widening provides preliminary evidence of a primary disease of myelination, in the absence of histopathological confirmation. This is probably the first report of "porencephaly" which shows a pattern of autosomal dominant inheritance.
D000328:Adult; D001927:Brain Diseases / Q000235:genetics*; D002648:Child; D003560:Cysts / Q000235:genetics*; D004830:Epilepsy, Tonic-Clonic / Q000235:genetics; D005260:Female; D006429:Hemiplegia / Q000235:genetics; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010375:Pedigree; D014057:Tomography, X-Ray Computed