Incomplete Wolfram syndrome. Clinical case report

Abstract

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 2^nd decade, and bladder atony develops only by the 3^rd 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 4^th 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.