Teaching NeuroImages: Hypomyelinating leukodystrophy with generalized dystonia
2020
A 16-year-old boy, born of nonconsanguineous parentage, had an uneventful birth history and mild global developmental delay. He had progressive gait disturbances since 2 years of age. Examination revealed generalized dystonia, scanning speech, pendular nystagmus, cerebellar ataxia, and spasticity. MRI brain showed features of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) (figure).
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