Urogenital Imaging

Didmoad syndrome, genitourinary manifestations

(also called Wolfram syndrome), an autosomal recessive disorder characterized by the association of juvenile onset diabetes mellitus and optic atrophy. Diabetes insipidus and deafness may co-exist. The term didmoad is an acronym (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, Deafness). Prevalence is estimated to be between 1 in 100,000 and 1 in 800,000. Up to two thirds of patients develop dilatation of the pelvicaliceal systems, ureters and bladder by the age of 20. These changes can be detected by intravenous urography, ultrasound, CT or MRI. Clinical manifestations include frequency, incontinence and recurrent urinary tract infections. This pathogenesis of urinary tract dilatation appears to be functional, rather than structural. The bladder is atonic, and bladder wall biopsies have shown a reduction in the number of nerve fibres. Other complications include primary gonadal atrophy and reduced fertility in most patients studied. Despite this, successful pregnancies resulting in healthy, unaffected children have been reported. The median age at death is 30 years, death usually resulting from renal failure secondary to infection.

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