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.
Marquardt JL, Loriaux DL. Diabetes Mellitus and Optic Atrophy: With Associated Findings of Diabetes Insipidus and Neurosensory Hearing Loss in Two Siblings. Arch Intern Med. 1974;134(1):32–37. doi:10.1001/archinte.1974.00320190034003
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