Consciousness disturbances in megalencephalic leukoencephalopathy with subcortical cysts

M. Bugiani, I. Moroni, A. Bizzi, N. Nardocci, T. Bettecken, J. Gärtner, Graziella Uziel

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Pages (from-to)211-214
Number of pages4
JournalNeuropediatrics
Volume34
Issue number4
DOIs
Publication statusPublished - Aug 2003

Keywords

  • Coma
  • Leukoencephalopathy
  • MLC

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

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