| H00875 | |
| H番号 | H00875 |
| 名称 | 皮質下嚢胞をもつ大頭型白質脳症 |
| 概要 | 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. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (MLC1) MLC1 [HSA:23209] [KO:K20070] (MLC2A, MLC2B) HEPACAM [HSA:220296] [KO:K23116] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8A44.3 ICD-10: E75.2 MeSH: C536141 OMIM: 604004 613925 613926 |
| 文献 | PMID:14572144 著者 Singhal BS, Gorospe JR, Naidu S タイトル Megalencephalic leukoencephalopathy with subcortical cysts. 雑誌 J Child Neurol 18:646-52 (2003) DOI:10.1177/08830738030180091201 PMID:15832614 著者 Riel-Romero RM, Smith CD, Pettigrew AL タイトル Megalencephalic leukoencephalopathy with subcortical cysts in two siblings owing to two novel mutations: case reports and review of the literature. 雑誌 J Child Neurol 20:230-4 (2005) DOI:10.1177/088307380502000301 PMID:21419380 著者 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 タイトル Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. 雑誌 Am J Hum Genet 88:422-32 (2011) DOI:10.1016/j.ajhg.2011.02.009 |