Adolescent patient with Wolfram syndrome and neurogenic bladder: Results of the Mitrofanoff technique

Abstract

Introduction: Wolfram Syndrome is an autosomal recessive genetic disorder characterized by type 1 diabetes mellitus, diabetes insipidus, deafness, optic nerve atrophy, and other neurodegenerative disorders.

Objective: To publicize the results of performing an appendicovesicostomy with the Mitrofanoff technique, as well as the basic aspects of Wolfram Syndrome, its diagnosis and treatment.

Case presentation: A 16-year-old female adolescent with type 1 diabetes and known visual disturbances, who was admitted to the emergency department due to diabetic ketoacidosis and urinary retention, in whom diabetes insipidus, neurogenic bladder, and optic nerve atrophy were subsequently documented, constituting Wolfram Syndrome or DIDMOAD. She was treated with desmopressin, insulin therapy adjustment, and bladder catheterizations to achieve urinary evacuation. However, due to the progressive visual loss, a Mitrofanoff- type appendicovesicostomy was performed to ensure intermittent catheterizations by the patient independently.

During a multidisciplinary follow-up consultation, the diagnosis was confirmed as being a homozygous carrier of the WFS1 gene that encodes wolframin with a potentially pathogenic variant and after 2 years from the hospitalization where the intervention was performed, functionality of the surgery and good metabolic control were observed.

Discussion and conclusion: Wolfram Syndrome is a rare entity with progressive clinical deterioration that should be suspected in all patients with type 1 diabetes associated with visual impairment. Early diagnosis of the disease allows for timely interventions such as Mitrofanoff-type appendicovesicostomy that facilitates independent urinary evacuation and the progression to renal failure.