title: Consciousness disturbances in megalencephalic leukoencephalopathy with subcortical cysts.
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.
authors.affiliation: Departments of Child Neurology, Istituto Neurologico "C. Besta", Milano, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Bugiani
authors.forename: I
authors.initials: I
authors.lastname: Moroni
authors.forename: A
authors.initials: A
authors.lastname: Bizzi
authors.forename: N
authors.initials: N
authors.lastname: Nardocci
authors.forename: T
authors.initials: T
authors.lastname: Bettecken
authors.forename: J
authors.initials: J
authors.lastname: Gärtner
authors.forename: G
authors.initials: G
authors.lastname: Uziel
mesh_terms: D001927:Brain Diseases / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy; D002648:Child; D002675:Child, Preschool; D003244:Consciousness Disorders / Q000175:diagnosis* / Q000209:etiology* / Q000628:therapy; D006259:Craniocerebral Trauma / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy; D015140:Dementia, Vascular / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy; D005260:Female; D006801:Humans; D007223:Infant