Wolfram-like syndrome - another face of a rare disease in children.

Objectives: The presence of two pathogenic variants in the gene leads to the occurrence of a rare genetic disease in children - Wolfram syndrome (WFS), which includes insulin-dependent diabetes mellitus (DM), optic atrophy (OA), diabetes insipidus (DI), and deafness (D). However, the presence of a single mutation in the gene results in a number of other autosomal dominant inherited diseases, including Wolfram-like syndrome (WFS-like).

Case Presentation: A 10-year-old boy was referred to the Genetic Outpatient Clinic with suspected WFS based on the coexistence of D, type 1 DM, short stature, and abnormalities in ophthalmologic examination (astigmatism and OA due to the optical coherence tomography result).