Naslov
Hypomylination and atrophy of the basal ganglia and cerebellum, a new syndrome:case report

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

Izvornik
Journal of inherited metabolic disease (0141-8955) 27 suppl. 11 (2004); 248-248

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, kongresno priopcenje, znanstveni

Ključne riječi
Hypomylination; Basal ganglia

Sažetak
Introduction: Hypomylination and atrophy of the basal ganglia and cerebellum (H-ABC) syndrome in a newly described disease characterised by typical MRI changes. Clinical features include progressive pyramidal and extrapyramidal movement disorder, developmental retardation. The syndrome was described so far in 7 patients. Case report: This new patient was diagnosed at age of 3 years with H-ABC syndrome due to characteristic MRI changes and clinical features. Oculogyric crises were particulary remarkable. Application of our recently developed myelination score revealed progressive deviation of mylination from age related normal values (62% at age 8 months, and 30% at age 40 months). Discussion: The H-ABC syndrome represents a new differential diagnosis in patients with cerebral hypomyelination and should be considered particulary in patients after exclusion of Pelizaeus Merzbacher disease.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA