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Open Access Green as soon as Postprint is submitted to ZB.
Consciousness disturbances in megalencephalic leukoencephalopathy with subcortical cysts.
Neuropediatrics 34, 211-214 (2003)
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a genetic disorder featuring diffuse MRI white matter abnormalities and a discrepantly mild clinical picture. it is related to different mutations in MLC1 gene encoding a putative membrane protein of still unknown function. We report on a genetically proven MLC patient who presented with a peculiar clinical course characterized by a prolonged comatose state following a minor head trauma at 12 years of age. The disturbance of consciousness lasted for over four months and then gradually improved. Proton MR spectroscopic imaging studies showed a moderately severe depletion of N-acetylaspartate restricted to the white matter with sparing of the cortical grey matter. The full recovery from coma suggests a transitory functional impairment of the structures implicated in the maintenance of consciousness.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
coma; leukoencephalopathy; MLC; VANISHING WHITE-MATTER; MILD CLINICAL COURSE; MUTATIONS; SCHIZOPHRENIA
Language
english
Publication Year
2003
HGF-reported in Year
0
ISSN (print) / ISBN
0174-304X
e-ISSN
1439-1899
Journal
Neuropediatrics
Quellenangaben
Volume: 34,
Issue: 4,
Pages: 211-214
Publisher
Thieme
Reviewing status
Peer reviewed
Institute(s)
Institute of Human Genetics (IHG)
PubMed ID
12973663
WOS ID
WOS:000185453800008
Erfassungsdatum
2003-12-31