Early-onset urological disorders due to Wolfram syndrome: A case of neonatal onset

[Introduction] Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Genetic analysis has demonstrated mutations of the WOLFRAMIN gene (WFS1) inpatients with this syndrome, which may be complicated by other conditions, among them urological disorders (UDs). According to one study, UDs were found to occur in 19.39% (76/392) of WS patients with an average age of 20 yr, with only two patients presenting UDs before the age of 5 yr, both during infancy. We report here a neonatal case of WS presenting UDs. [Case Report] The patient was a 15-yr-old Japanese boy with WS. He was the second child of healthy, non-consanguineous Japanese parents and was born through spontaneous vaginal delivery after 39 wk of gestation following an uncomplicated pregnancy. He suffered from urinary tract infection at the age of 10 d. The Society for Fetal Urology (SFU) classifications in renal sonography were grade 2 (right) and grade 1 (left). Urethral dilatation and bladder enlargement were also observed. Voiding cystourethrogram showed vesicoureteral reflex in the right kidney (grade V).