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A Case of Imperforate Anus with Rectovaginal BMJ Case Reports: first published as 10.1136/bcr-2015-210084 on 21 October 2015. Downloaded from Global health CASE REPORT Access to essential paediatric surgery in the developing world: a case of imperforate anus with rectovaginal and rectocutaneous fistulas left untreated Marilyn L Vinluan,1 Remigio M Olveda,1 Clive K Ortanez,2 Modesto Abellera,2 David U Olveda,2 Delia C Chy,3 Allen G Ross4 1Department of Health, RITM, SUMMARY a malformation, compared with the incidence of Manila, Philippines Anorectal malformations consist of a wide spectrum of about 1 in 5000 in the general population.5 There 2University of the East-Ramon Magsaysay Memorial Medical conditions which can affect both sexes and involve the is a reported association between imperforate anus Center, The Philippines distal anus and rectum as well as the urinary and genital and prenatal thalidomide exposure, maternal dia- 3Department of Health, tracts. Patients have the best chance of a good betes mellitus and maternal age.4 Additionally, a Northern Samar, The functional outcome if the condition is diagnosed early recent systematic review and meta-analysis indi- Philippines and efficient anatomic repair is promptly instituted. This cated that paternal smoking and maternal obesity 4Griffith Health Institute, Southport, Queensland, report describes a rare case of imperforate anus were associated with increased risks for the devel- 6 Australia associated with both rectovaginal and rectocutaneous opment of ARM. Although no factors are known fistulas in a 6-year-old Filipino girl. The case highlights to prevent or reduce the risk for imperforate anus Correspondence to shortcomings in the healthcare delivery system combined during pregnancy, a study conducted in China Professor Allen G Ross, μ a.ross@griffith.edu.au with socio-economic factors that contributed to the delay showed that daily maternal consumption of 400 g in both diagnosis and the institution of adequate of folic acid before and during early pregnancy Accepted 28 August 2015 treatment. Care and preventive measures that can be may reduce the risk for imperforate anus.4 implemented in low-resource settings to reduce the Imperforate anus can be categorised based on sex impact of birth defects are also discussed. specific classifications and the site of the associated fistula. In females, imperforate anus may be asso- ciated with fistulas to the perineum or vaginal vesti- BACKGROUND bule and rarely to the vagina.7 The most common A birth defect is defined as any abnormality affect- anomaly in females is a rectovestibular fistula.5 ing body structure or function that is present from A fistula in the perineum or between the blind http://casereports.bmj.com/ birth. Congenital malformations of single systems, lower end of the rectum and urethra (bulbar or organs or limbs comprise the majority of birth prostatic) or the bladder neck may occur with defects with a prevalence of 36.5 per 1000 births.1 imperforate anus in males. Isolated imperforate In the Philippines, a review of in-patient records anus can also occur in both sexes, while cloaca is a from 1996 to 2000 at the Philippine General rare variant seen in females where the rectum, Hospital (PGH) listed congenital heart defects as vagina and urethra open together in a common the most common birth defect. This was followed channel.7 by Hirschsprung disease, congenital atresia, and ARM has the unique aspect of having a higher stenosis of anus without fistula.2 association with congenital anomalies, with the Anorectal malformations (ARM) include a wide reported range varying between 20% and 80%. on 24 September 2021 by guest. Protected copyright. spectrum of defects in the development of the The most common associated anomalies reported lowest portion of the intestinal and urogenital worldwide were related to the urogenital system, tracts. Children with these malformations have no the most frequent of which are renal agenesis, opening where the anus should be and are said to ectopic kidney, vesicoureteral reflux, hypospadias have an imperforate anus.3 However, the use of the and undescended testes. Other systems such as the latter term belies the complexity of this condition. cardiovascular, gastrointestinal tract and nervous Imperforate anus is an embryonic birth defect that systems, can also be affected.8 Complex defects that results from incomplete formation of the hindgut, are associated with other anomalies have a poor resulting in the absence or abnormal localisation of functional prognosis compared to minor defects the anus around the eighth week of development. without accompanying anomalies.5 The rectum may end in a blind pouch or have The diagnosis of imperforate anus is usually openings to the urethra, bladder or vagina.4 made shortly after birth by routine physical exam- To cite: Vinluan ML, Imperforate anus occurs in about 1 in 5000 live ination. The majority of ARMs in girls can be diag- Olveda RM, Ortanez CK, births; its aetiology remains unknown and is likely nosed correctly on physical examination alone. An et al. BMJ Case Rep fi Published online: [please multifactorial. A genetic component is also possible anal ori ce visible on the perineum with a normal include Day Month Year] because as early as the 1950s, it was recognised vagina and urethra is indicative of a perineal fistula. doi:10.1136/bcr-2015- that there was an increased risk (as much as 1/100) A rectovestibular fistula, on the other hand, occurs 210084 for a sibling of a patient with ARM to be born with if the opening is in the posterior vestibule and Vinluan ML, et al. BMJ Case Rep 2015. doi:10.1136/bcr-2015-210084 1 BMJ Case Reports: first published as 10.1136/bcr-2015-210084 on 21 October 2015. Downloaded from Global health outside the hymen. If only one orifice is seen between the labia, The patient is the fourth child in a family of five children. cloaca is highly likely. Rectovaginal fistulas may initially appear Her 44-year-old father is a high school graduate and works as as imperforate anus with no fistula (normal-appearing vagina a carpenter and a motorcycle driver to provide for his family. and urethra, but no visible anal orifice) but closer inspection His average income is about PHP 6000 (US$135) a month. will usually show the presence of an orifice in the posterior wall Her 42-year-old mother is a college graduate in nursing but is of the vagina or internal to the hymenal ring.9 Radiological currently working as a utility worker in a local government evaluation of the newborn with an imperforate anus should office earning PHP 3000 (US$67) a month. The parents were include abdominal ultrasound to detect urological abnormalities able to secure a loan of PHP 20 000 (US$450) from a local (ie, distended vagina or hydrocolpos associated with persistent cooperative in order to take their daughter to Manila for surgi- cloaca) and plain radiographs of the spine and sacrum to assess cal care. for anomalies.5 The patient was brought to the PGH in Manila for medical Sepsis, aspiration, abdominal distension, colonic perforation, consultation at the age of 2. She was subsequently diagnosed respiratory distress, electrolyte imbalance and even death are with an imperforate anus and rectovaginal fistula and admitted to complications that can arise from the delayed diagnostic and the charity surgical ward for operation. However, the child was therapeutic management of ARM.10 The reported mortality rate taken off the operation list due to the higher priority given to of imperforate anus is between 1.4% and 30%.8 Undoubtedly, emergency cases. After a month of waiting in the hospital, the the importance of early diagnosis of imperforate anus cannot be parents decided to discharge their daughter and to re-admit her over-emphasised. Immediate diagnosis will allow timely planning when a definite operation date could be confirmed. The family of subsequent management. Staged surgery, the most widely stayed at a relative’s home in Manila for almost 8 months while accepted approach for the management of ARM, consists of waiting for the surgery resident to notify them about the avail- three operations: colostomy at birth, definitive operation after ability of an operation. The father worked as a fish vendor in 2–3 months of age, and colostomy closure at the age of around Manila to cover their daily expenses. Unfortunately, they were 6 months.3 A posterior sagittal approach with anorectoplasty never contacted by the PGH surgery resident and decided to (PSARP) is the ideal definitive method to repair ARM.5 Regular return home without care. Upon return, the patient started to follow-up in a bowel management treatment centre is needed in verbally complain about abdominal pain associated with the all these cases in order to achieve better continence.3 A combin- abdominal enlargement. The child had a good appetite but was ation of successful anatomical repair and appropriate pro- underweight for her age. Her social skills were also greatly grammes of bowel care can lead to socially acceptable continence affected as she refused to play with other children due to embar- in a majority of patients, especially those with an intact sacrum.11 rassment about the malodorous discharge coming from her We present an unusual case of imperforate anus presenting vagina. In 2012 the parents sought the help of a private donor with rectovaginal fistula and concomitant rectocutaneous fistula. (AGR) who was conducting clinical research in the community. We also discuss the socio-economic factors that impeded the Arrangements were made and the patient was subsequently patient from getting access to early paediatric surgical care. Care admitted to the University of the East-Ramon Magsaysay and preventive measures that can be implemented in low and Memorial Medical Center (UERMMC) for evaluation and middle-income countries to reduce the impact of birth defects further management.
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