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September 1982

Neuroaxonal Dystrophy and Down's Syndrome: Report of a Case

Author Affiliations

From the Departments of Neurology, Massachusetts General Hospital, Boston (Drs Halperin, Landis, and Lott), and Yale University School of Medicine, New Haven (Dr Ment).

Arch Neurol. 1982;39(9):587-591. doi:10.1001/archneur.1982.00510210057015

• An infant girl with Down's syndrome at birth manifested only mild developmental delay during the first 18 months of life. During the next six months, however, progressive deterioration in cognitive and motor function emerged. Thorough clinical and biochemical evaluation failed to determine the origin of the sensorimotor neuropathy, visual dysfunction, abnormal eye movements, and intellectual decline that developed. A sural nerve biopsy specimen revealed structures typical of neuroaxonal dystrophy.

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