title: Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Report of a new case.
abstract: Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndrome is a new neurodegenerative entity, which was first described by van der Knaap in 2002 in 7 patients aged from 2 months to 2 years. We describe a new, 42-month-old female patient who developed progressive dystonia, spasticity and oculogyric eye movements since the age of 3 months. The diagnosis was made by characteristic MRI findings including supratentorial hypomyelination and progressive atrophy of basal ganglia and cerebellum. Oculogyric eye movements have not been described in patients with H-ABC syndrome before. When compared with the normal age-related myelination patterns, the degree of hypomyelination increased progressively over the time course of 32 months, indicating arrest but not loss of myelination. The H-ABC syndrome adds to the differential diagnosis of progressive pyramidal and extrapyramidal movement disorders and to the increasing number of genetically determined hypomyelination syndromes.
authors.affiliation: Department of Pediatrics, University of Vienna, Vienna, Austria.
authors.forename: S
authors.initials: S
authors.lastname: Mercimek-Mahmutoglu
authors.forename: M S
authors.initials: MS
authors.lastname: van der Knaap
authors.forename: I
authors.initials: I
authors.lastname: Baric
authors.forename: D
authors.initials: D
authors.lastname: Prayer
authors.forename: S
authors.initials: S
authors.lastname: Stoeckler-Ipsiroglu
mesh_terms: D001284:Atrophy / Q000473:pathology; D001479:Basal Ganglia / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology*; D003711:Demyelinating Diseases / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D015835:Ocular Motility Disorders / Q000209:etiology / Q000473:pathology; D013577:Syndrome