Males with Down's syndrome and nonneurogenic neurogenic bladder

We assessed the relationship of trisomy 21 with the most severe dysfunctional elimination syndrome, nonneurogenic neurogenic bladder or the Hinman-Allen syndrome.

We retrospectively reviewed our experience with children with Down's syndrome (trisomy 21) in a 10-year period and identified a subset who presented for the evaluation and treatment of urinary tract infections associated with severe disorders of urinary and fecal elimination.

Four males 9 months, 14 years, 18 years and 21 years old met the criteria for review. All patients underwent radiological and urodynamic evaluation, and were diagnosed with hydronephrosis and prostatic urethral dilatation with pelvic floor spasticity. Renal function studies showed a creatinine of 0.7 mg./dl. in the 9-month-old, 1.2 mg./dl. in the 14-year-old, 1.9 mg./dl. in the 18-year-old and 2.2 mg./dl. in the 21-year-old patient. Three patients underwent surgical treatment to protect the upper urinary tract, including bladder augmentation cystoplasty and an appendiceal Mitrofanoff stoma in 2, and vesicostomy in 1. The remaining patient was treated conservatively with a behavioral modification program that included timed voiding and a bowel regimen.

Boys with trisomy 21 may be at risk for the Hinman-Allen syndrome. Surgical intervention and clean intermittent catheterization for renal preservation and continence can be performed in this population despite intellectual impairment. Further evaluation is necessary to determine whether this relationship is more common than appreciated and whether this syndrome occurs in females with trisomy 21.