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A rare coexistence of urogenital anomalies, anorectal atresia and skeletal defects

Sir, The combination of bladder agenesis and anorectal atresia is an exceptionally rare complex congenital anomaly described by only a small number of published works in the literature (1–4). Our literature investigation concluded that only 13 such living cases have been reported up to now with bladder agenesis and additional urogenital defects (3). A few of these cases (2, 4) also had anal atresia and skeletal defects as well. We report on a 12-mo-old female case with congenital anomalies that was referred to our department for fever and haematuria. The infant was full term and vaginally delivered. Amniotic fluid volume was normal. There was no consanguinity. Sonography at the 17th– 18th wk of gestation showed an anomalous cystic formation in the area of the bladder and uterus. Physical examination after birth revealed atresia of the anus, ambiguous genitalia, ectopic ureteric opening and bilateral club foot. A day after birth, a colostomy was performed because of anal atresia. Laparotomy revealed anorectal atresia, absence of uterus, absence of vagina, bladder and right ureter, and normal ovaries. The left ureter was at the left lateral wall of a large cavity in the area of the bladder and uterus. The right kidney was dysplastic, whereas the left one was normal. On abdominal ultrasound scan, the liver and spleen were found to be normal. Chromosome analysis revealed a 46XX karyotype. At the age of 2 mo, an IVP revealed a left kidney with mild hydronephrosis and a swelled left ureter. The right kidney was not functioning at all, whereas the bladder was not represented. At the age of 5 mo, an operation for the club feet was performed. On physical examination, after admission to our Department, the infant had normal growth. The thorax was tropidoid. Abdominal examination revealed a colostomy. We found absence of labia minora and majora, and a flat perineum without anal and no sign of sacral defect. There was a protruding skin fold in the area of the clitoris and a natal cleft beside. From this ectopic opening there was continuous urinary leakage. At the area of the labia majora there was at both sides, but especially at the right, a hyperplastic mass. Also, the infant had normal feet after the operation for the club foot. Laboratory data showed: leycocytosis, urea 15 mg/ dl, creatinine 0.53 mg/dl and negative blood culture. Urine culture showed infection caused by Pseudomonades Aueroginosa. After 2 d of therapy with netilmycin and ceftazidime, the infant was without fever, whereas the urine culture at day 3 of the therapy was negative. From the follow-up in our hospital, sacral ultrasound was normal, and abdominal ultrasound and magnetic resonance imaging demonstrated nephrocalcinosis in the left kidney and a compensatory hypertrophy. The right kidney was dysplastic. The DMSA renal scan revealed a normal left kidney and a right kidney not functioning at all. Echocardiography was normal, whereas we did not detect any hearing problems. Finally, chemioprophylaxis was provided and advice for being alert in preventing possible urinary infections was given. Based on the above clinical characteristics and the embryological aspects, we conclude that our case constitutes a complex of uncommon cloacal anomalies and skeletal defects. We emphasize also that our patient s spanning her second year of life with normal growth. Once we recovered intestinal obstraction with colostomy, our concern should now be the prevention of acute pyelonephritis originating from ascending urinary infection to protect her unique kidney.