Incomplete Wolfram syndrome. Clinical case report

Full Text

Open Access Open Access
Restricted Access Access granted
Restricted Access Subscription Access


We describe clinical presentation of Wolfram syndrome and follow-up data in a child. Diagnostics of Wolfram syndrome takes time because clinical symptoms develop not at the time of disease manifestation, but usually several years later. The sequence of manifestations also varies. According to the literature, sensorineural hearing loss occurs in the 2nd decade, and bladder atony develops only by the 3rd decade. In the presented case, initial manifestations of bladder innervation disorders in the form of its dysfunction developed as early as the first year, and sensorineural hearing loss formed by the 4th year of the disease. As in other studies, the patient developed optic disc atrophy within the first year after diabetes onset. This clinical case confirms variability in the clinical symptoms of Wolfram syndrome. The sequence in which the disease picture develops (in this case, there was an incomplete form of syndrome — the absence of diabetes insipidus) does not always coincide with the classic course of syndrome, which complicates timely diagnosis.

Full Text

Restricted Access

About the authors

Oleg A Dianov

Children’s Clinical Hospital №2; Tver State Medical University

SPIN-code: 1115-4615
MD, PhD 4, Rzhevskaya str., Tver, 170023; 4, Sovetskay street, Tver, 170000

Ekaterina A Lavrova

Tver State Medical University

SPIN-code: 9192-4589
MD 4, Sovetskay street, Tver, 170000

Vadim V Maltcev

Children’s Clinical Hospital №2

MD 4, Rzhevskaya str., Tver, 170023

Darina A Oleynik

Children’s Clinical Hospital №2

MD 4, Rzhevskaya str., Tver, 170023


  1. Strom T. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (Didmoad) caused by mutations in a novel gene (Wolframin) coding for a predicted transmembrane protein. Hum Mol Genet. 1998;7(13):2021-2028. doi:
  2. Barrett TG, Bundey SE. Wolfram (Didmoad) syndrome. J Med Genet. 1997;34(10):838-841. doi:
  3. Barrett TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK Nationwide Study of wolfram (Didmoad) syndrome. The Lancet. 1995;346(8988):1458-1463. doi:
  4. Дедов И.И., Кураева Т.Л., Ремизов О.В., и др. Генетика сахарного диабета у детей и подростков. Пособие для врачей. — М.: Эндокринологический научный центр РАМН, 2003. [Dedov II, Kuraeva TL, Remizov OV, et al. Genetica sakharnogo diabeta u detey i podrostkov. Guidelines For Doctors. Moscow. 2003. (In Russ.)].
  5. Кураева Т.Л., Зильберман Л.И. Случай нетипичного течения DIDMOAD-синдрома. // Сахарный Диабет. — 2000. — Т. 3. — №1. — С.43-45. [Kuraeva TL, Zil’berman LI. Sluchay netipichnogo techeniya DIDMOAD-sindroma. Diabetes Mellitus. 2000;3(1):43-45. (In Russ.)]. doi:
  6. Гришина Д.Ю. Клинические варианты и молекулярная основа Didmoad-синдрома: Дис. … канд. мед. наук. — М. 2013. [Grishina DYu. Klinicheskie varianty i molekulyarnaya osnova Didmoad-sindroma: Dissertation. Moscow. 2013. (In Russ.)].
  7. Силкина М.И., Белякова Н.А., Ларева А.В., и др. Синдром Вольфрама (клиническое наблюдение) // Верхневолжский медицинский журнал. — 2016. — Т. 15. — №3. — С. 42-43. [Silkina MI, Belyakova NA, Lareva AV, et al. DIDMOAD-syndrome (clinical observation). Upper Volga Medical Journal. 2016;15(3):42-43. (In Russ.)].
  8. Farmer A, Ayme S, de Heredia ML, et al. Euro-WABB: an eu rare diseases registry for Wolfram syndrome, alstrom syndrome and Bardet-Biedl syndrome. BMC Pediatr. 2013;13(1):130. doi:
  9. Табеева К.И., Белая Ж.Е., Арутюнян Д.Б., и др. Didmoad синдром. Клинический разбор. // Сахарный диабет. — 2004. — Т. 7. — №2. — С. 60-64. [Tabeeva KI, Belaya ZhE, Arutyunyan DB, et al. Didmoad sindrom. Klinicheskiy razbor. Diabetes Mellitus. 2004;7(2):60-64. (In Russ.)]. doi:
  10. Зрительные функции и их коррекция у детей: Руководство для врачей. / Под ред. Аветисова С.Э., Кащенко Т.П., Шамшиновой А.M. — М. 2005. [Avetisov SE, Kashchenko TP, Shamshinova AM, Editors. Zritel’nye Funktsii I Ikh Korrektsiya U Detey. Guidelines For Doctors. Moscow. 2005. (In Russ.)].

Copyright (c) 2020 Dianov O.A., Lavrova E.A., Maltcev V.V., Oleynik D.A.

Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies