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Consciousness disturbances in megalencephalic leukoencephalopathy with subcortical cysts
1Departments of Child Neurology, Istituto Neurologico "C. Besta", Milano, Italy.
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.
Insights
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare genetic disorder. A unique case showed prolonged coma after head trauma, with white matter N-acetylaspartate depletion and full recovery.
Area of Science:
- Neurology
- Genetics
- Neuroimaging
Background:
- Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a genetic white matter disorder.
- Mutations in the MLC1 gene are associated with this condition, but the protein's function remains unclear.
Observation:
- A genetically confirmed MLC patient experienced a prolonged coma (over four months) after minor head trauma at age 12.
- This patient exhibited a peculiar clinical course deviating from the typically mild presentation of MLC.
Findings:
- Proton MR spectroscopic imaging revealed significant N-acetylaspartate depletion in the white matter.
- Cortical grey matter was spared, indicating a localized metabolic disturbance.
Implications:
- The patient's full recovery from coma suggests a potentially reversible functional impairment in brain structures vital for consciousness.
- This case highlights the complex and variable clinical manifestations of MLC and the utility of advanced neuroimaging.