Clinical case of incomplete form of Wolfram Syndrome

- Ризничук, М.О. (orcid.org/0000-0002-3632-2138), Пішак, В.П. (orcid.org/0000-0002-0637-6936), Крецу, Т.М., Дмитрук, В.П. and Костів, М.І. (2019) Clinical case of incomplete form of Wolfram Syndrome Сучасна педіатрія, 4 (100). ISSN 2663-7553

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Abstract

Wolfram syndrome (syn: WS, DIDMOAD syndrome) is an autosomal recessive degenerative disease with a progressive course. The complete syndrome is described, which includes four components: diabetes mellitus (DM), diabetes insipidus (DI), optic nerve atrophy and sensorineural hypocusis. The incom9 plete form of the syndrome is manifested by a combination of diabetes mellitus and diabetes insipidus. The case of incomplete form of Wolfram syndrome is presented. The first sign of the syndrome was the development of diabetes insipidus at one year of age, and after two years, diabetes mellitus type I developed. Optic nerve atrophy and sensorineural hypocusis during the entire period of observation were not detected. Conclusions patients with diabetes insipidus should be diagnosed with diabetes mellitus type I when they are deteriorating. When discovered, the child should be suspected of having Wolfram syndrome and have a hearing and vision test for early detection of optic nerve atrophy and hypocusis.

Item Type: Article
Keywords: incomplete form of Wolfram syndrome, diabetes insipidus, diabetes mellitus type I, children
Subjects: Science and knowledge. Organization. Computer science. Information. Documentation. Librarianship. Institutions. Publications > 6 Applied Sciences. Medicine. Technology > 61 Medical sciences
Divisions: Institute of Psychology after N.Kostiuk > Common resources institute
Depositing User: чл.-кор. Василь Павлович Пішак
Date Deposited: 08 Nov 2019 12:23
Last Modified: 08 Nov 2019 12:23
URI: http://lib.iitta.gov.ua/id/eprint/717695

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