| H00875 | |
| H number | H00875 |
| Name | Megaloencephalic leukoencephalopathy with subcortical cysts |
| Description | Megaloencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare leukodystrophy characterized by macrocephaly and a slowly progressive clinical course marked by spasticity and cognitive decline. Magnetic resonance imaging (MRI) shows bilateral extensive white-matter changes with cysts in the temporal regions. Based on the clinical and MRI features, MLC can be distinguished from other conditions (ie, Alexander disease [DS:H00065], Canavan disease [DS:H00074], glutaric acidemia type I [DS:H00178]) that present in infancy with megalencephaly. An autosomal recessive mutations in the MLC1 gene have been shown to cause this condition. Recently, mutations in HEPACAM gene are reported to be associated with MLC. |
| Category | Nervous system disease |
| Network | - |
| Gene | (MLC1) MLC1 [HSA:23209] [KO:K20070] (MLC2A, MLC2B) HEPACAM [HSA:220296] [KO:K23116] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8A44.3 ICD-10: E75.2 MeSH: C536141 OMIM: 604004 613925 613926 |
| Reference | PMID:14572144 AUTHORS Singhal BS, Gorospe JR, Naidu S TITLE Megalencephalic leukoencephalopathy with subcortical cysts. JOURNAL J Child Neurol 18:646-52 (2003) DOI:10.1177/08830738030180091201 PMID:15832614 AUTHORS Riel-Romero RM, Smith CD, Pettigrew AL TITLE Megalencephalic leukoencephalopathy with subcortical cysts in two siblings owing to two novel mutations: case reports and review of the literature. JOURNAL J Child Neurol 20:230-4 (2005) DOI:10.1177/088307380502000301 PMID:21419380 AUTHORS Lopez-Hernandez T, Ridder MC, Montolio M, Capdevila-Nortes X, Polder E, Sirisi S, Duarri A, Schulte U, Fakler B, Nunes V, Scheper GC, Martinez A, Estevez R, van der Knaap MS TITLE Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. JOURNAL Am J Hum Genet 88:422-32 (2011) DOI:10.1016/j.ajhg.2011.02.009 |