Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions. Disease data Classification Disease Synonyms MLC Leukodystrofia z wielkogłowiem MLC Wielkogłowie - leukodystrofia torbielowata Wielkogłowie z leukodystrofią wakuolizującą i torbielami podkorowymi Zespół Van der Knaapa Megalencephalic leukodystrophy Megalencephaly-cystic leukodystrophy syndrome Vacuolating megalencephalic leukoencephalopathy with subcortical cysts Van der Knaap syndrome ORPHA code 2478 OMIM code 613926 ICD10 code E75.2 ICD11 code 8A44.3 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl