Cases reported "Anus, Imperforate"

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1/7. An unusual case of the complete Currarino triad: case report, discussion of the literature and the embryogenic implications.

    OBJECTIVE AND IMPORTANCE: We present and illustrate an unusual case of the complete familial Currarino triad (an association between a bony sacral defect, a presacral mass, and an anorectal malformation) in which the teratoma arose from the conus medullaris and contained mature neurons, glia, and branching ependymal canals that were in communication with a terminal syrinx. The embryogenic implications are discussed. CLINICAL PRESENTATION: The patient was a term neonate when discovered to have imperforate anus. Further workup revealed lumbosacral dysraphism with a presacral mass, a rectovaginal fistula, and a single pelvic kidney. The family pedigree revealed a familial transmission pattern; the patient had a second cousin with anal atresia and a first cousin with similar sacral anomalies. The motor level was L4 with trace L5, and there was absent sensation in the sacral dermatomes. INTERVENTION: A diverting colostomy was performed on Day 14, and the infant returned at 3 months of age to undergo near-total resection through the previous abdominal approach. Only a subtotal resection was possible because the mass arose from the low-lying conus and was firmly adherent to the sacral nerve roots and iliac vessel. Follow-up magnetic resonance imaging performed 18 months after surgery revealed that the residual tumor had not progressed. CONCLUSION: Complete Currarino triad is rare and is familial in half of the cases. The special features of the tumor in our case were the presence of mature neurons with ependymal canals and its origin from the conus. The possible embryogenesis may provide evidence that the caudal notochord is important for organized secondary neurulation.
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2/7. Low anorectal malformation associated with 'ano-urethro-cutaneous' fistula.

    Anorectal malformations are one of the common congenital anomalies encountered in the newborn period. The plethora of anomalies described makes it a complex subject for embryological explanations. Fistulous communications between the blind rectum and the urinary tract are common in boys with high/intermediate anomalies, but it is uncommon in children with low anorectal malformations, more so a double fistula. We are reporting a case of 'ano-uerthro-cutaneous fistula' associated with a low ano rectal malformation.
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3/7. Augmented-pressure colostogram in imperforate anus with fistula.

    Most newborns with imperforate anus, except for those with very low varieties, undergo a diverting colostomy performed in the postnatal period, with definitive surgical repair at a later age. Accurate demonstration of the anatomy of any associated fistula between the rectum and urogenital tract is essential for optimal surgical management. An augmented-pressure distal segment colostogram is recommended prior to definitive repair, both to confirm the level of rectal atresia and to define any associated fistulous communication. We report a case of high imperforate anus with rectourethral fistula in which the fistulous tract was not identified on the conventional contrast colostogram but was readily delineated when an augmented-pressure modification of the technique was utilized. The technical aspects of augmented-pressure colostography are presented.
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4/7. Enterolithiasis with imperforate anus. Report of two cases with sonographic demonstration and occurrence in a female.

    Enterolithiasis has been previously described as a plain film finding of rectovesical or rectourethral fistula in patients with anorectal malformation. Two cases of enterolithiasis with anorectal malformation are described in which the intraluminal nature of the calcifications was identified using ultrasound. The use of ultrasound for this purpose has not been previously reported to our knowledge. This simple, noninvasive technique permits antenatal differentiation between enterolithiasis and meconium peritonitis in some patients and can suggest the prenatal diagnosis of rectourinary communication when enterolithiasis is present. In addition, one of our cases occurred in a female. The entity of enterolithiasis with imperforate anus in a female has not been previously reported.
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5/7. Hyperchloremic metabolic acidosis as a clue to recto-urethral fistula in an infant with anal atresia.

    An infant with high anal atresia and transverse colostomy, in whom initial radiologic evaluation of the urinary tract had been normal, developed hyperchloremic metabolic acidosis at 24 days of age. gastroenteritis and renal tubular acidosis as possible causes for this metabolic disturbance were excluded, which prompted a repeat investigation of the possibility of a communication between the urinary tract and the rectum. A recto-urethral fistula was demonstrated by urethrography. Analysis of the fluid obtained from the left colon as compared to urine in the bladder and voided urine demonstrated that electrolyte exchange was taking place in the colon, resulting in hyperchloremic hypokalemic acidosis. Treatment with oral sodium bicarbonate and daily lavage of the left colon resulted in normalization of the acid-base status and catch-up growth of the baby. Hyperchloremic acidosis associated with anal atresia and recto-urinary communication appears to be uncommon. However, early diagnosis and treatment of the metabolic derangement are of importance as it may determine the infant's overall prognosis.
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6/7. Vasa deferentia inserting into retroiliac ureters.

    A communication between the vas deferens and ureter is one of the many genitourinary anomalies associated with an imperforate anus. We describe a case of an imperforate anus with multiple urinary tract abnormalities, which included ectopic insertion of the vasa deferentia into the ureters.
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7/7. Caudal developmental field defect with female pseudohermaphroditism and VACTERL anomalies.

    We describe an infant who died shortly after birth, with Potter sequence and prune belly anomaly, omphalocele, single umbilical artery, imperforate anus and micropenis with empty scrotum. Fetopathological examination revealed multiple vertebral anomalies with rudimentary sacrum, hypoplasia o2 the first metacarpus on right hand, complex cardiovascular anomalies, malrotation of intestines, a dilated and blind-ending cloaca to which both ureters and a bicornuate uterus were connected, normal ovaries, hypoplastic kidneys with cystic renal dysplasia. The descending colon ended blindly and showed a fistulous communication with the cloaca. Chromosome studies on peripheral blood lymphocytes and fibroblasts of a skin biopsy demonstrated a normal 46,XX karyotype. The possible mechanisms underlying the concurrence of a caudal developmental field defect with female pseudo-hermaphroditism and additional features of the VACTERL association are discussed.
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