Consciousness disturbances in megalencephalic leukoencephalopathy with subcortical cysts

Neuropediatrics. 2003 Aug;34(4):211-4. doi: 10.1055/s-2003-42209.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain Diseases / complications*
  • Brain Diseases / diagnosis*
  • Brain Diseases / therapy
  • Child
  • Child, Preschool
  • Consciousness Disorders / diagnosis*
  • Consciousness Disorders / etiology*
  • Consciousness Disorders / therapy
  • Craniocerebral Trauma / complications*
  • Craniocerebral Trauma / diagnosis*
  • Craniocerebral Trauma / therapy
  • Dementia, Vascular / complications*
  • Dementia, Vascular / diagnosis*
  • Dementia, Vascular / therapy
  • Female
  • Humans
  • Infant