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Neuroaxonal Dystrophy and Down's SyndromeReport of a Case
John J. Halperin, MD;
Dennis M. D. Landis, MD;
Ira T. Lott, MD;
Laura Ment, MD
Arch Neurol. 1982;39(9):587-591.
Abstract
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.
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).
Footnotes
Accepted for publication Oct 5, 1981.
Reprint requests to Department of Neurology, Massachusetts General Hospital, Fruit Street, Boston, MA 02114 (Dr Halperin).
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