A syndrome of autosomal recessive pontocerebellar hypoplasia with white matter abnormalities and protracted course in two brothers.

Abstract excerpt

We describe two brothers with an autosomal recessive syndrome characterized by neonatal onset, severe impairment of cognitive and motor functions, abnormal ocular movements and slight dystonic postures. Brain MR and CT scan showed a reduction in size of the cerebellum and to a lesser extent pons, accompanied by cerebral and cerebellar white matter abnormalities. These data suggest that they have a particular...

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