Diabetes Mellitus and Optic Atrophy: With Associated Findings of Diabetes Insipidus and Neurosensory Hearing Loss in Two Siblings

John L. Marquardt, Donald (Lynn) Loriaux

Research output: Contribution to journalArticle

26 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)32-37
Number of pages6
JournalArchives of Internal Medicine
Volume134
Issue number1
DOIs
StatePublished - 1974
Externally publishedYes

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Optic Atrophy
Diabetes Insipidus
Hearing Loss
Diabetes Mellitus
Color Vision Defects
Pyrogens
Alanine
Hearing
Hydrocortisone

ASJC Scopus subject areas

  • Internal Medicine

Cite this

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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.",
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