Abstract
A familial condition characterized by juvenile diabetes mellitus (DM), optic atrophy (OA), nerve deafness (D), diabetes insipidus (DI) and central nervous system defects is appearing in the medical literature with increasing frequency. These clinical features are found in variable combinations. The syndrome is either referred to as Wolfram-Tyrer syndrome1 after two independent early observers2,3, or as DIDMOAD syndrome4, an acronym depicting some of its most commonly expressed features. Other features have been reported including heredo-familial ataxias, dilatation of the urinary tract and sideroblastic anaemia. Despite the diversity of expression of the syndrome, there is a similarity in the pattern of clinical presentation among affected individuals of the same family.
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References
A. Sorsby, (1973). Some newer genetic entities. In A. Sorsby and S. Miller (eds), Modern Trends in Ophthalmology, pp. 89–91. (Butterworth London)
D. J. Wolfram, (1938). Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Mayo Clin. Proc., 13,715
J. Tyrer, (1943). A case of infantilism with goitre, diabetes mellitus, mental defect and bilateral primary opticatrophy. Med. J. Aust., 2, 398
M. McB. Page, A. C. Asmal, and C. R. W. Edwards, (1976). Recessive inheritance of diabetes: the syndrome of diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Q. J. Med., New Series XL V, 179, 505
C. W. R. J. Cremers, P. G. A. B. Wijdereld, and A. J. L. G. Pinckers, (1977). Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder and other abnormalities (Wolfram Syndrome). Acta Paediatr. Scand., (Suppl.) 264
C. Rose G. R. Fraser A. I. Fried ann and E. M. Kohner 1966. The association of juvenile diabetes mellitus and optic atrophy clinical and genetical aspects. Q. J. Med. New Series XXXV 139 38
D. G. Ikkos, G. R. Fraser, E. Matsouki-Gavra, and M. Petrochilos. (1970). Association of juvenile diabetes mellitus, primary optic atrophy and perceptive hearing loss in three sibs, with additional idiopathic diabetes insipidus in one case. [tiActa Endocrinol. (Kbh), 65, 95
J. L. Marquardt, and D. L. Loriaux, (1974). Diabetes mellitus and optic atrophy with associated findings of diabetes insipidus and neurosensory hearing loss in two siblings. Arch. Intern. Med., 134, 32
P. R. Stevens, and W. A. L. Macfadyen, (1972). Familial incidence of juvenile diabetes mellitus, progressive optic atrophy and neurogenic deafness. Br. J. Ophthalmol, 56, 496
D. W. Ashby, and P. S. Tweedy, (1953). Friedreich’s ataxia combined with diabetes mellitus in sisters. Br. Med. J., 1, 1418
C. Thoren, (1962). Diabetes mellitus in Friedreich’s ataxia. Acta Paediatr. Scand., 135 (Suppl.), 239
B. H. MacGibbon, and D. L. Mollin, (1965). Sideroblastic anaemia in man. Observationn seventy cases. Br. J. Haematol, 11
G. Jarmerot, (1973). Diabetes mellitus with optic atrophy–thalassaemia-like sideroblastic anaemia and weak isoagglutinins. A new genetic syndrome? Acta Med. Scand., 193, 359
M. Andre-van Leeuwen and L. van Bogaert, (1949). Hereditary ataxia with optic atrophy of the retrobular neuritis type and latent Pallido-Luysian degeneration. [tiBrain, 72, 340
L. van Bogaert, and M. Martin, (1974). Optic and cochleovestibular degenerations in the hereditary ataxias. I Clinico-pathological and genetic aspects. Brain, 97, 15
B. W. Konigsmark, D. L. Knox, I. E. Hussels, and H. Moses, (1974). Dominant congenital deafness and progressive optic nerve atrophy. Arch. Ophthalmol., 91, 99
R. B. Byrd and T. Cooper 1961. Hereditary iron loading anaemia with secondary haemochromatosis. Ann. Intern. Med. 55 10
G. Rorsman, and N. Soderstrom, (1967). Optic atrophy and juvenile diabetes mellitus with familial occurence. Acta Med. Scand., 182, 419
C. Anonssakis, D. Liakakos, P. Vlachos, N. Zervos, and G. Simonetos, (1975). Le syndrome familial associant in diabete suere juvenile et une atrophie optique primitive. A propos de trois observations. Pediatrie, 30, 179
F. C. Fraser, and T. Gunn, (1977). Diabetes mellitus, diabetes insipidus and optic atrophy. An autosomal recessive syndrome. J. Med. Genet., 14, 190
M. Fracca and F. Gastaldi 1952. La patologia della sindrome de Laurence Moon-Biedl. Folia. Hered. Pathol. 2 177
T. Gunn, R. Bortolussi, J. M. Little, F. Andermann, F. C. Fraser, and M. M. Betmonte, (1976). Juvenile diabetes mellitus, optic atrophy, sensory nerve deafness and diabetes insipidus — a syndrome. J. Pediatr., 89, 565
R. E. Coupland, (1978). Personal communication.
S. Podolsky, A. Pothier and L. P. Krall, (1964). Association of diabetes mellitus and Friedreich’s ataxia. Arch. Intern. Med., 114, 533
J. Cordier, A. Reny and A. Raspiller, (1970). Atrophie optique familiale et diabete juvenile. Rev. Otoneuroophthalmol., 42, 269
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© 1980 The Society for the Study of Inborn Errors of Metabolism
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Sheriff, S.M.M., Tetley, J.G., Maddock, C.R. (1980). Juvenile diabetes and optic atrophy. In: Burman, D., Holton, J.B., Pennock, C.A. (eds) Inherited Disorders of Carbohydrate Metabolism. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-9215-3_25
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DOI: https://doi.org/10.1007/978-94-009-9215-3_25
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