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Simultaneous Occurrence of Diabetes Mellitus, Diabetes Insipidus, and Optic Atrophy in a Brother and Sister FREE

Merl J. Carson, MD; Ursula T. Slager, MD; Russell M. Steinberg, MD
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Reprint requests to Children's Hospital of Orange County, 1109 W La Veta, Orange, CA 92668.


Arch Pediatr Adolesc Med. 1977;131(12):1382-1385. doi:10.1001/archpedi.1977.02120250064010
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• We report the cases of two siblings who died at age 21 and 15 years respectively. Both had optic atrophy, pitressinsensitive diabetes insipidus, and insulindependent diabetes mellitus, with onset occurring in early childhood. Although there are now 21 patients from 15 families with this syndrome, this is the first time that necropsy findings have become available. They include the expected atrophy of hypothalamic nuclei and degeneration of the optic nerves, chiasm and tract, as well as a totally unexpected degeneration of the pons and cerebellum.

(Am J Dis Child 131:1382-1385, 1977)

REFERENCES

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 134:32-37, 1974;.
Ikkos DG, Fraser GR, Matsouki-Gavra E, et al:  Association of juvenile diabetes mellitus, primary optic atrophy and perceptive hearing loss in three sibs, with additional idiopathic diabetes insipidus in one case . Acta Endocrinol 65:95-102, 1970;.
Sunder JH, Danowski TS, Kenny FM, et al:  Pedigrees with diabetes insipidus, diabetes mellitus, and optic atrophy . J Med Genet 9:408-412, 1972;.
Rose FC, Fraser GR, Friedmann AI, et al:  The association of juvenile diabetes mellitus and optic atrophy: Clinical and genetical aspects . Q J Med 35:385-405, 1966;.
Bretz GW, Baghdassarian A, Graber JD, et al:  Coexistence of diabetes mellitus and insipidus and optic atrophy in two male siblings . Am J Med 48:398-403, 1970;.
Moore JR:  Juvenile diabetes mellitus, diabetes insipidus, and neurological abnormalities . Proc R Soc Med 64:730, 1971;.
Tunbridge RE, Paley RG:  Primary optic atrophy in diabetes mellitus . Diabetes 5:295-296, 1956;.
Greenfield JG:  System degenerations of the cerebellum brainstem and spinal cord , in Blackwood W, McMenemey WH, Meyer A, et al (eds): Greenfield's Neuropathology . Baltimore, Williams & Wilkins Co, 1963;, pp 581-601.
Podolsky S, Pothier A, Krall IP:  Association of diabetes mellitus and Friedreich's ataxia: A study of two siblings . Arch Intern Med 114:533-537, 1964;.

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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 134:32-37, 1974;.
Ikkos DG, Fraser GR, Matsouki-Gavra E, et al:  Association of juvenile diabetes mellitus, primary optic atrophy and perceptive hearing loss in three sibs, with additional idiopathic diabetes insipidus in one case . Acta Endocrinol 65:95-102, 1970;.
Sunder JH, Danowski TS, Kenny FM, et al:  Pedigrees with diabetes insipidus, diabetes mellitus, and optic atrophy . J Med Genet 9:408-412, 1972;.
Rose FC, Fraser GR, Friedmann AI, et al:  The association of juvenile diabetes mellitus and optic atrophy: Clinical and genetical aspects . Q J Med 35:385-405, 1966;.
Bretz GW, Baghdassarian A, Graber JD, et al:  Coexistence of diabetes mellitus and insipidus and optic atrophy in two male siblings . Am J Med 48:398-403, 1970;.
Moore JR:  Juvenile diabetes mellitus, diabetes insipidus, and neurological abnormalities . Proc R Soc Med 64:730, 1971;.
Tunbridge RE, Paley RG:  Primary optic atrophy in diabetes mellitus . Diabetes 5:295-296, 1956;.
Greenfield JG:  System degenerations of the cerebellum brainstem and spinal cord , in Blackwood W, McMenemey WH, Meyer A, et al (eds): Greenfield's Neuropathology . Baltimore, Williams & Wilkins Co, 1963;, pp 581-601.
Podolsky S, Pothier A, Krall IP:  Association of diabetes mellitus and Friedreich's ataxia: A study of two siblings . Arch Intern Med 114:533-537, 1964;.

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