Clinical case of incomplete form of wolfram syndrome

Authors

  • M. A. Ryznychuk Higher State Educational Establishment of Ukraine «Bukovinian State Medical University», Chernivtsi, Ukraine
  • V. P. Pishak National Academy of Pedagogical Sciences of Ukraine, Kyiv, Ukraine, Ukraine
  • T. N. Kretsu Regional Children's Clinical Hospital, Chernivtsi, Ukraine, Ukraine
  • V. P. Dmitruk Regional Children's Clinical Hospital, Chernivtsi, Ukraine, Ukraine
  • M. I. Kostiv Regional Children's Clinical Hospital, Chernivtsi, Ukraine, Ukraine

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 incomplete 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.

The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee (LEC) of institution. The informed consent of the patient was obtained for conducting the studies.

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Issue

No. 4(100) (2019): Modern pediatrics. Ukraine

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Clinical case

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