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Megalencephalic leukoencephalopathy with subcortical cysts in two siblings owing to two novel mutations: case reports and review of the literature.

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.
AuthorsRosario Maria S Riel-Romero, Charles D Smith, Anjana L Pettigrew
JournalJournal of child neurology (J Child Neurol) Vol. 20 Issue 3 Pg. 230-4 (Mar 2005) ISSN: 0883-0738 [Print] United States
PMID15832614 (Publication Type: Case Reports, Journal Article, Review)
Chemical References
  • MLC1 protein, human
  • Membrane Proteins
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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