Home
Deutsch
Advanced Search
Browse by ...
Publication overview
Contact persons
Help
DOI
PMC
 |
|
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.
Altmetric
Additional Metrics?
Edit extra informations
Login
Publication type
Article: Journal article
Document type
Scientific Article
Keywords
coma; leukoencephalopathy; MLC; VANISHING WHITE-MATTER; MILD CLINICAL COURSE; MUTATIONS; SCHIZOPHRENIA
ISSN (print) / ISBN
0174-304X
e-ISSN
1439-1899
Journal
Neuropediatrics
Quellenangaben
Volume: 34,
Issue: 4,
Pages: 211-214
Publisher
Thieme
Non-patent literature
Publications
Reviewing status
Peer reviewed
Institute(s)
Institute of Human Genetics (IHG)