An adolescent male with persistent urinary symptoms

Area of Science:

• Pediatric Endocrinology
• Genetics
• Nephrology

Background:

• Wolfram syndrome (DIDMOAD) is a rare autosomal recessive disorder.
• It is characterized by diabetes mellitus (DM), diabetes insipidus (DI), optic atrophy, and deafness.
• Early diagnosis and management are crucial to prevent severe complications.

Observation:

• An 11-year-old male presented with polyuria, polydipsia, and urinary hesitancy.
• Initial diagnosis of DM was made, but persistent polyuria and polydipsia led to further investigation.
• Central DI was diagnosed and treated with desmopressin.
• Ophthalmic examination revealed bilateral optic atrophy, confirming Wolfram syndrome.

Findings:

• Despite treatment for DM and DI, the patient exhibited persistent urinary complaints.
• Ultrasound revealed bilateral hydronephroureterosis.
• Bladder workup, including VCUG and urodynamic studies, showed a thickened, trabeculated bladder wall with overactivity, poor compliance, and high bladder pressure.
• Bladder dysfunction is a known complication of Wolfram syndrome.

Implications:

• This case underscores the importance of a comprehensive evaluation for children presenting with urinary symptoms, especially when accompanied by signs of DM and DI.
• Early identification and management of bladder dysfunction in Wolfram syndrome are critical for preventing upper urinary tract damage and chronic kidney disease.
• Integrated care involving endocrinology, ophthalmology, audiology, and urology is essential for optimal patient outcomes.