title: Hypomyelination with atrophy of the basal ganglia and cerebellum: case report.
abstract: 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.
authors.affiliation: Serviço de Neurologia, Hospital Universitário, Faculdade de Medicina, Universidade Federal Fluminense, Niterói, RJ, Brazil. andrepcmatta@hotmail.com
authors.forename: André Palma da Cunha
authors.initials: AP
authors.lastname: Matta
authors.forename: Márcia Cristina Antunes
authors.initials: MC
authors.lastname: Ribas
mesh_terms: D001284:Atrophy / Q000473:pathology; D001479:Basal Ganglia / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology*; D003711:Demyelinating Diseases / Q000150:complications / Q000473:pathology*; D020820:Dyskinesias / Q000209:etiology; D004421:Dystonia / Q000209:etiology; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D011596:Psychomotor Disorders / Q000209:etiology