Abstract |
Megalencephalic leukoencephalopathy with subcortical cysts is a rare leukodystrophy characterized by macrocephaly and a slowly progressive clinical course marked by spasticity and cognitive decline. We report two full siblings with neuroimaging studies and clinical courses typical for megalencephalic leukoencephalopathy with subcortical cysts, in whom a pair of novel mutations in the MLC1 gene was identified. We review the current knowledge of this disorder in relation to the patients reported.
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Authors | Rosario Maria S Riel-Romero, Charles D Smith, Anjana L Pettigrew |
Journal | Journal of child neurology
(J Child Neurol)
Vol. 20
Issue 3
Pg. 230-4
(Mar 2005)
ISSN: 0883-0738 [Print] United States |
PMID | 15832614
(Publication Type: Case Reports, Journal Article, Review)
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Chemical References |
- MLC1 protein, human
- Membrane Proteins
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Topics |
- Adolescent
- Central Nervous System Cysts
(diagnosis, genetics)
- Child
- Craniofacial Abnormalities
(diagnosis, genetics)
- Dementia, Vascular
(diagnosis, genetics)
- Female
- Hereditary Central Nervous System Demyelinating Diseases
(diagnosis, genetics)
- Humans
- Male
- Membrane Proteins
(genetics)
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