YH Liao, YL Ko, LP Tsai

Abstract

Wolfram syndrome is a hereditary autosomal recessive disease with an estimated prevalence of 1/550,000 in children. The mutations of the Wolfram syndrome 1 gene, which encodes Wolframin are responsible for the majority of cases of Wolfram syndrome. In this case report, a 16-year-old young man with a medical history of diabetes mellitus and bilateral blindness secondary to optic atrophy presented with severe hyperglycaemia without ketoacidosis. Polyuria secondary to partial neurologic diabetes insipidus, primary hypogonadism and bilateral sensorineural hearing loss were also identified. The genetic diagnosis of Wolfram syndrome was ultimately confirmed through genetic studies of patient and his mother. With the knowledge of Wolfram syndrome being a rare genetic disorder causing juvenile non-autoimmune diabetes, the early diagnosis is imperative to provide proper early managements. With genetic analysis of patient with suspected features, the early diagnosis becomes an achievable reality.