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Diabetes Mellitus and Optic AtrophyWith Associated Findings of Diabetes Insipidus and Neurosensory Hearing Loss in Two Siblings
John L. Marquardt, MD;
D. Lynn Loriaux, MD, PhD
Arch Intern Med. 1974;134(1):32-37.
Abstract
Two siblings had diabetes mellitus, diabetes insipidus, and optic atrophy. Abnormal findings include color blindness, neurosensory hearing loss, hyposmia, thermoregulatory failure in both hot and cold environments, electroencephalographic epileptiform activity, partial diabetes insipidus, blunted plasma cortisol response to pyrogen infusion, and aminoaciduria, predominantly of alanine. We propose a clinical entity consisting of bilateral optic atrophy, diabetes mellitus, diabetes insipidus, neurosensory hearing deficit, and hypothalamic dysfunction of variable degree.
Author Affiliations
Bethesda, Md
From the Clinical Branch, National Eye Institute (Dr. Marquardt), and the Reproduction Research Branch, NICHD (Dr. Loriaux), National Institutes of Health, US Department of Health, Education, and Welfare, Bethesda, Md.
Footnotes
Received for publication Jan 9, 1973; accepted Jan 29.
Reprint requests to Reproduction Research Branch, National Institute of Child Health and Human Development, Bldg 10, Room 12N-206, Bethesda, MD 20014 (Dr. Loriaux).
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