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Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
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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Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Wissenschaftlicher Artikel
Schlagwörter
coma; leukoencephalopathy; MLC; VANISHING WHITE-MATTER; MILD CLINICAL COURSE; MUTATIONS; SCHIZOPHRENIA
ISSN (print) / ISBN
0174-304X
e-ISSN
1439-1899
Zeitschrift
Neuropediatrics
Quellenangaben
Band: 34,
Heft: 4,
Seiten: 211-214
Verlag
Thieme
Nichtpatentliteratur
Publikationen
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Human Genetics (IHG)