Familial Dandy-Walker malformation and leukodystrophy.

We report the first familial cases with two different types of posterior fossa cystic malformation and a leukodystrophic-like aspect on cerebral magnetic resonance imaging (MRI). The girl and her brother had severe encephalopathy, marked hypotonia, absent deep tendon reflexes, macrocrania, gigantism, and dysmorphic face and extremities. The girl had generalized seizures. The boy had unilateral cataract and bilateral optic atrophy. The parents were first cousins, suggesting autosomal recessive transmission. MRI showed Dandy-Walker variant in the girl, with cerebellar vermis hypoplasia and expansion of the cisterna magna, which communicated with the fourth ventricle. Her brother had mega cisterna magna communicating with the fourth ventricle and a normal cerebellum. The 2 children had abnormally high signal in the supratentorial white matter. Visual and auditory evoked potentials revealed prolonged latencies. Motor and sensory conduction velocities were normal. Muscle and nerve biopsies were normal. Metabolic exploration demonstrated no abnormality.

Early hemispherectomy in a case of hemimegalencephaly.

We report a case with hemimegalencephaly and catastrophic epilepsy treated early at 4 months by functional hemispherectomy. The boy had intractable continuous epilepsy, with seizures every 10 min, hemiparesis and absence of psychomotor acquisition. Three years after hemispherectomy, the boy is seizure free and has a mild psychomotor delay. Hemiparesis and hemianopsia are unchanged. Early hemispherectomy, before 6 months of age, may control severe epilepsy and preserve the development of higher cortical functions in the nonhemimegalencephalic hemisphere.