異染性白質ジストロフィー (Metachromatic Leukodystrophy) の二症例

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  • Metachromatic Leukodystrophy: Report of 2 cases

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Case 1: The patient was a girl, aged 26 months. Gestation, delivery, and development until 16 months of age were normal. Soon after beginning to walk, she had a gait of progressive stiffness and ataxia. Eight months after onset of the illness, she was unable to sit alone and speak, and mentally deteriorated. Her parents were in cousinship, and her elder sister died of clinically suspected leukodystrophy at the age of 4 years.<BR>Microscopic examination revealed some metachromatic substances in the urine sediment. The right frontal lobe was biopsied. The white matter included abundant quantities of the metachromatic, granular material demonstrated by Hirsch-Peiffer and toluidine blue stains. The lipid content of the biopsied specimen showed a pronounced increase in suifatide.<BR>Case 2: The patient was a 33-month-old boy. His parents were also in cousinship. Although he could stand with a support at 12 months, he was never able to walk. At the age of 21 months, the child could no longer sit alone and speak. General weakness and hypotonia noted at the same time. During about one month after the admission, he had spasticity of limbs with hyperactive tendon reflexes and Babinski sign.<BR>No metachromatic substance was observed in the urine sediment, but arylsulfatase-A activity in urine was not detected. In frozen sections of the biopsied ulnar nerve, stained with cresyl violet acetic acid, the metachromasia characteristic of metachromatic leukodystrophy was readily identified. Electron microscopical examination revealed cytoplasmic inclusions of variable density, measuring up to 2 microns in diameter, in Schwann cells of the myelinated nerves.

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  • 脳と発達

    脳と発達 3 (3), 277-286, 1971

    THE JAPANESE SOCIETY OF CHILD NEUROLOGY

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