Abstract
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.
Original language | English |
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Pages (from-to) | 211-214 |
Number of pages | 4 |
Journal | Neuropediatrics |
Volume | 34 |
Issue number | 4 |
DOIs | |
Publication status | Published - Aug 2003 |
Keywords
- Coma
- Leukoencephalopathy
- MLC
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health