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A Case of Congenital Imperforate Anus and Absent Vagina with a Functioning Uterus

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A Case of Congenital Imperforate Anus and Absent Vagina with a Functioning Uterus Tohoku J. exp. Med., 1974, 113, 283-289 A Case of Congenital Imperforate Anus and Absent Vagina with a Functioning Uterus YOSHIYUKI FUJIWARA,* TETSUNOSUKE OHIZUMI,* MASAMI SASAHARA,* EIICHI KATO,* GORO KAKIZAKI,* TAKUZO ISHIDATE•õ and TETSURO FUJIWARA•ö Department of Surgery,* Department of Pathology•õ and Depart ment of Pediatrics,•ö Akita University School of Medicine, Akita FUJIWARA, Y., OHIZUMI, T., SASAHARA, M., KATO, E., KAKIZAKI, G., ISHI DATE, T. and FUJIWARA, T. A Case of Congenital Imperforate Anus and Absent Vagina with a Functioning Uterus. Tohoku J. exp. Med., 1974, 113 (3), 283-289 „Ÿ Vaginoplasty and anoplasty were undertaken in a case (aged 8 years) of imper forate anus and perineal fistula with absence of the vagina by making use of the fistula and rectum and by the pull-through procedure, respectively. The surgical procedures employed are considered to be most appropriate for correction of these deformities. Three years later, however, the patient developed hematometra and hematosalpinx due to a functional uterus present. She underwent hysterectomy combined with left salpingo-oophorectomy. If normal uterus is noted to be present upon laparotomy, it seems important to establish spatial communication between the stump of the vagina constructed and the corpus uteri, to prevent future development of hematometra.-anus; vagina; uterus Imperforate anus complicated with other anomalies is not infrequent. Association with other deformities was reported by Gross (1967) in 198 (39%) of 507 cases of imperforate anus, and by Santulli (1962) in 70 (32%) of 220 cases. However, the imperforate anus and perineal fistula associated with absence of vagina is extremely rare, the incidence being so low as 2•`4 cases according to the above investigators. Neither Gross nor Santulli mentioned of therapeutic details for those cases. There is as yet no report of such a case in Japan, to our knowledge, and the only reported therapeutic experience is in a case by Cohn and Murphy (1956) and in two others by Ein and Stephens (1971). We have experienced a case, 8 years of age, of imperforate anus associated with absence of vagina in which anoplasty and vaginoplasty were performed and, three years later, hematometra and hematosalpinx developed. The present communica tion deals with the case. CASE REPORT S.K., 8 years old Chief complaint at the first admission to this hospital: Abdominal distension and defecation via the perineal fistula. Received for publication, November 24, 1973. 283 284 Y. Fujiwara et al. Family history: Unremarkable. Natal history: Born by full-term normal delivery; weight at birth, 2,600 g. Present illness. At age of 50 days, dilatation of the perineal fistula was performed at another hospital with repeated dilatations for the next several years. At age of 8 years, she was first seen with continuing problems due to poor fecal control, abdominal distention and anorexia and was admitted to this hospital on March 30, 1966. Findings on the first admission: Physical examination revealed marked abdominal dis tension and contour of the intestine, and, in the perineum, the external urethral orifice situated in normal position, whereas a rectoperineal fistula was noted open in a place of the ostium vaginae which was found to be absent. There was an anal dimple existent in the place of anus just posterior to it. The region of the dimple appeared to contain anal sphincters. X-Ray examination with contrast medium injected via the perineal fistula disclosed the distance between the perineal opening of the fistula and the blind end of rectum to be 5 cm and the latter to be situated 5 cm distant from an estimated position for anoplasty, and, accordingly, the case was diagnosed as imperforate anus with perineal fistulation and absence of vagina. Course of treatment: A colostomy was performed through a right upper quadrant transverse incision, on April 13, 1966. Two weeks later, laparotomy was performed, through a left rectus muscle split incision under general anesthesia. The corpus uteri, both ovaries and fallopian tubes were noted to be present, but there was no cervix uteri. The sigmoid and rectum were mobilized as low as possible in the pelvis and transected at the level of peritoneal reflexion. The distal portion of the rectum was closed by two -layer sutures to fashion a vagina. The skin of anal dimple area was then incised and bluntly dissected taking care to preserve levator sling intact. The proximal portion of the bowel was pulled through to the perineum and prolapsed out of the anus. Then the sero-muscular layer of the prolapsed bowel was fixed with the subeutis of the incised anal region by interrupted sutures. The pelvis was reperitonealized and the abdominal wound was closed in layers. Eleven days after the operation, the prolapsed bowel was divided in the anal region, and the mucocutaneous anastomosis was made with interrupted sutures to complete the abdominoperineal anoplasty. The colostomy was closed eight months after the opera tion. Some impairment of function of the sphincters was noted with the anus made but, before long, defecative function was restored and the patient was dismissed from the hospital. On April 10, 1969, she was admitted to a certain hospital because of hypogastric pain that developed all of a sudden. The symptom, nevertheless, grew progressively marked despite treatment and the patient was transferred to this hospital on April 14 . Chief complaint at the second admission: A hypogastric mass with intermittent abdominal pain. Findings on the second admission: Physical examination revealed that both the build and nutrition were slightly poor: pulse rate, 72 per minute; respiratory rate , 20 per minute; b ody temperature, 37•Ž; and blood pressure, 112 and 80 mmHg . On percussion and auscultation over the chest no pathologic finding was noted . Nor was there evidence of abnormality with respect to limbs or body surfaces . The abdomen was slightly distended and a hard , immovable mass, the size of an infant's head, was palpable in the hypogastric region , slightly leftward from the median line. X- ray examination of the colon by a barium enema revealed that both the rectum and the sigmoid colon were thrust aside to form an upward arch by the mass which appeared to be enlarged uterus (Fig. 1). The case therefore was diagnosed as hematometra , from her Imperforate Anus and Absent Vagina 285 Fig. 1. X-Ray examination of the colon by a barium enema. Both the rectum and the sigmoid colon are thrust aside to form an upward arch by the mass. TABLE 1. Laboratory findings previous history. Findings on surgical operation: When the abdomen was opened by median incision in the hypogastrium under general anesthesia, the uterus was found to be enlarged to the size of an infant's head and the left fallopian tube also swollen as large as a goose-egg, thus presenting features of hematometra and left hematosalpinx, while the right uterine tube and ovary were normal. Hysterectomy combined with left salpingo-oophorectomy was performed. Gross pathologic and microscopic findings for resected specimen: The uterus and the left uterine tube were found grossly to be filled with old blood. Histopathologic examina- 286 Y. Fujiwara et al. tion of these tissues revealed the endometrium to be generally thin and show interstitial hemorrhage with proliferation of glands deficient in secretory function and circumscribed endometrial hyperplasia (Figs. 2 and 3). The case progressed favorably after the surgical operation and was dismissed with cure on the 18th hospital day. Fig. 2. Resected specimen. Fig. 3. Histologic findings of the resected specimen . Interstitial hemorrhage with pro liferation of glands deficient in secretory function and circumscribed endometrial hyperplasia are noted. (H.E. stain). COMMENT Cohn and Murphy (1956) were the first to make a full report on a seven-year old girl of congenital imperforate anus with absence of vagina , in whom the Imperforate Anus and Absent Vagina 287 deformities were corrected by construction of the vagina and anus by the pull through technique after colostomy. In this case the uterus was found to be only a trace and normal ovarian tissues and chromosomal femininity were confirmed by ovarian and skin biopsy examinations. Subsequently reported were two cases described by Ein and Stephens (1971). The first of the two was an eight-year old girl with right ureter duplex and imperforate anus with absence of vagina in whom vaginoplasty and anoplasty were performed as the first stage of correction by the pull-through procedure. The case was devoid of uterus and had ovaries and fallopian tubes. On ovarian biopsy the organs were noted to be atrophic and the chromosome pattern to be 46, XX. The second case, a 10-year-old child associated with left renal defect, received surgical correction by the pull-through procedure of vaginoanoplasty in the first stage. The uterus was only a trace and ovarian biopsy findings were unremarkable, the chromosome pattern being 46, XX (Table 2). These are the only cases that have ever been reported as to outcome of surgical correction in the past. The case reported herein differs conspicuously from the three previously reported cases in that the ours had functional uterine tissues, and failure to institute any effective countermeasures for it on the occasion of the first operation eventuated in further correction on the second hospitalization. Congenital absence of vagina is frequently associated with defect of func tional uterine tissues. According to Word (1957), 17 out of a total of 212 such TABLE 2. Reported cases of imperforate anus with absent vagina corrected by surgery 288 Y. Fujiwara et al. TABLE 3. Functioning uterus associsted with congenital absence of the vagina cases reported had functional uterine tissues and consequently developed menstrual blood collection (Table 3). The presence of functional endometrium inevitably gives rise to hematometra and hematosalpinx, as Jeffcoate (1969) stated, and surgical correction should be undertaken with the consequence definitely kept in mind in such a case.
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