Naslov
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Report of a new case.

Autori
Mercimek-Mahmutoglu, S. ; Van der Knaap, M. ; Barić, Ivo ; Prayer, D. ; Stoeckler-Ipsiroglu, S.

Izvornik
Neuropediatrics (0174-304X) 36 (2005), 3; 223-236

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Hypomyelination ; atrophy ; basal ganglia ; cerebellum

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA