Consciousness disturbances in megalencephalic leukoencephalopathy with subcortical cysts.
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.
Bugiani
M
M
Departments of Child Neurology, Istituto Neurologico "C. Besta", Milano, Italy.
Moroni
I
I
Bizzi
A
A
Nardocci
N
N
Bettecken
T
T
Gärtner
J
J
Uziel
G
G
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