Hypomyelination with atrophy of the basal ganglia and cerebellum: case report

hypomyelination with atrophy of the basal ganglia and cerebellum (h-abc) is a rare disease that has been recently described. it must be remembered as a possible etiology of leukoencephalopathies in children. we describe a typical case of h-abc in a 11-month-old boy. he presents with global development delay, oral dyskinesia, and global dystonia and spasticity. magnetic resonance imaging disclosed typical features of h-abc and clinical laboratory tests were all negative. a slow neurological deterioration has been detected with worsening of involuntary movements.