PA13 Cutaneous clues to congenital anomalies: a neonatal case of PELVIS syndrome

Abstract

Infantile haemangiomas are the most common benign vascular tumours in children. However, extensive segmental haemangiomas in the perineal or lumbosacral region may signify underlying congenital anomalies. PELVIS syndrome is a rare but clinically significant association, coined by Girard et al. in 2006, describing the constellation of perineal haemangioma, external genital malformations, lipomyelomeningocele, vesicorenal anomalies, imperforate anus and skin tags. We report a preterm female infant born at 36 + 1 weeks’ gestation (birth weight 2.98 kg) who presented with erythematous perineal changes initially misdiagnosed as nappy rash. At 8 weeks of age, she was identified to have an imperforate anus with a rectovestibular fistula and extensive perineal haemangiomas extending onto the lower back. Examination under anaesthesia demonstrated a thickened, dilated sigmoid colon, and a distal descending loop colostomy was performed. Spinal ultrasonography revealed a 3-cm hyperechoic vascular lesion adjacent to the sacrum with extension into the spinal canal, suspicious for lipomyelomeningocele, while abdominal ultrasonography demonstrated a small haematocolpos. Magnetic resonance imaging of the spine, pelvis and abdomen was unfortunately inconclusive due to motion artefact, with repeat imaging planned to further characterize the anomalies and inform surgical management. The infant remained clinically stable, feeding well and passing urine normally, and topical emollient therapy was initiated. Propranolol was considered but deferred pending postoperative recovery. This case highlights the characteristic spectrum of PELVIS syndrome and underscores the importance of recognizing extensive perineal haemangiomas as cutaneous markers of potential underlying structural anomalies, necessitating careful clinical examination to identify associated anorectal and external genital malformations. Early imaging, multidisciplinary involvement and coordinated surgical and medical management, including appropriate timing of systemic therapy, are essential to optimize outcomes in affected infants.