- XLIV Jornadas Nacionais de Neonatologia. Évora. 2015.
Background. Caudal regression sequence (OMIM 600145) is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine; it may associate with a wide variety of cardiac, urologic, genital and intestinal anomalies. The specific symptoms and severity can vary dramatically from one infant to another. Case Report. A female neonate, third sibling of a West African family, was born in Portugal due to prenatal diagnosis of unilateral polycystic kidney, delivered at term by caesarean section. Imperforate anus was detected in the delivered room and she was referred to a tertiary neonatal medico-surgical unit. Antesurgical imagiology revealed absence of the sacrum with abnormal raquidean channel (anchored medulla) and dysplastic multicystic left kidney; brain and heart sonographies were normal. Diversive colostomy was performed in the first day of life; the surgical exploration revealed left monocornic uterus with its homolateral annexes, and rectal fistula to the vulvar vestibulum with absence of vaginal introitus. The bladder fully empties spontaneously. The cystography revealed a normally sized bladder with grade I reflux to the right kidney and continence on the left side. She was started on trimetropim prophylaxis and is followed up in the Paediatric Urology outpatient clinic for further study of the neuroaxis and spine, renal function and pelvis. Discussion. Either prenatal diagnosis of isolated nephro-urologic anomalies or neonatal diagnosis of imperforated anus should lead to thorough search for associated anomalies. In the present case, a classic caudal regression sequence associates with less frequent genital anomalies.
Palavras Chave: Caudal regression sequence, imperforated anus, monocornic uterus, neonate, urinary continence.