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.
Matta
André Palma da Cunha
AP
Serviço de Neurologia, Hospital Universitário, Faculdade de Medicina, Universidade Federal Fluminense, Niterói, RJ, Brazil. andrepcmatta@hotmail.com
Ribas
Márcia Cristina Antunes
MC
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