PELVIS Syndrome: A Case Report

Abstract

Objective − PELVIS syndrome is an association between large perineal hemangiomas and congenital anomalies, including anorectal, urinary tract, spine, and external genitalia malformations. We present a 7-year-old boy with PELVIS syndrome.

Case report −. The boy had been monitored since early intrauterine age by ultrasound (US) due to left kidney cysts. Clinical examination at birth found large segmental hemangiomas in the perineal, gluteal region, and the left leg. At the age of 4 weeks US showed a multicystic, dysplastic left kidney with compensatory hypertrophy of the right kidney. Voiding cystography (VCUG) did not show vesicoureteral reflux and morphology of the bladder, and the urethra was normal. PELVIS syndrome was suspected and the child underwent further diagnostic tests which showed: undescended left testis with a hypoplastic left scrotum and micropenis, right-sided angulation of the sacrum and closed spinal dysraphism from S1 to S5, with lipoma of the filum terminale, without tethering. The urodynamics investigation was normal. During the seven-year follow-up there was spontaneous regression of the left kidney cysts; the growth and function of the right kidney was normal, as was also sphincter control. There was significant spontaneous regression of the hemangiomas. Follow-up magnetic resonance imaging (MRI) of the lumbosacral spine showed no progression of the lipoma.

Conclusion − Large perineal hemangiomas should be recognized as indicators of underlying congenital anomalies, including urogenital, anorectal and spinal. Therefore, additional diagnostic evaluation, including kidney ultrasound and spine imaging, are necessary.