| Abstract|| |
Anorectal malformation (ARM), one of the most common congenital anomalies, may present with a wide spectrum of defects. Although, female ARM and male children with low ARM may present late, almost all male patients with high ARM present within first few days of life. We present a rare case of a male child with a high ARM with a wide recto-prostatic urethral fistula who presented at one year of age. He had an associated left radial club hand deformity. He underwent 3 staged repair viz. right transverse colostomy, posterior sagittal anorectoplasty and stoma closure. Our patient was wrongly informed to undergo surgical intervention at one year of age by a village doctor. The parents were also ignorant about the pathology. This case highlights the requirement for improvement in not only literacy, but also basic health care, awareness of the general population and the medical fraternity about common congenital anomalies, and an efficient referral system to a tertiary care center, in India.
Keywords: Delayed presentation, high anorectal malformation, male child
|How to cite this article:|
Karkera PJ, Kothari PR, Gupta RK, Gupta AR, Ranjan RR, Kesan K. Delayed primary presentation of a male child with high anorectal malformation: A case report and review of relevant literature. Ann Trop Med Public Health 2012;5:600-2
|How to cite this URL:|
Karkera PJ, Kothari PR, Gupta RK, Gupta AR, Ranjan RR, Kesan K. Delayed primary presentation of a male child with high anorectal malformation: A case report and review of relevant literature. Ann Trop Med Public Health [serial online] 2012 [cited 2017 May 23];5:600-2. Available from: http://www.atmph.org/text.asp?2012/5/6/600/109301
| Introduction|| |
Anorectal malformation (ARM) is one of the most common congenital anomalies having an incidence of 1/1500-5000 live births. , It displays a wide range of severity from imperforate anal membrane to complete caudal regression. , A majority of patients with this defect present immediately after birth. If not, almost all male patients present within the first few days of life with obstructive symptoms because of absent or a narrow fistula.  In developing countries like India, where a significant number of births are home deliveries, poverty and illiteracy contribute to a significant number of patients with ARM present to a referral center later during infancy or even late childhood. Such delayed presentation may affect the surgical management and contribute to functional and psychological problems for both children and their parents.  We present a male child with high ARM, who exceptionally presented at the age of 1 year. This case is perhaps the oldest age of presentation for a male child with high ARM reported in literature.
| Case Report|| |
A 1-year-old male child, born to uneducated parents, from a low socio-economic stratum, residing in Uttar Pradesh, India, was brought to us by his parents with the complaints of absent anal opening and passage of flatus and faeces through the urethra since birth [Figure 1] and [Figure 2]. The baby was a full term, vaginal home delivery and was exclusively on breast feeds since birth. He was malnourished, weighing 5.6kg (< 3 rd percentile for age). On examination, his abdomen was soft and distended, though no fecalomas were palpable. The patient was also passing clear urine intermittently. He had an associated left radial club hand deformity [Figure 3]. On investigating, the blood investigations were normal. X-ray of the spine, ultrasound of the abdomen, 2D- echocardiography did not reveal any associated anomaly. Voiding cystourethrogram did not demonstrate any vesico-ureteric reflux but showed a large rectoprostatic urethral fistula [Figure 4].
|Figure 3: Clinical photograph of the child with left radial club hand deformity|
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|Figure 4: Voiding cystourethrogram demonstrating the recto-prostatic urethral fistula|
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In view of the abdominal distension and poor nutritional status, a right transverse colostomy was done as the initial procedure. A pressure augmented distal colostogram before the definitive repair showed normal calibre distal colon without fecalomas. Three months later, with good weight gain (patient weight-9kg),
the child being on a healthy mixed diet with good bowel decompression through the stoma, a posterior sagittal anorectoplasty (PSARP) was done. Intra-operatively, a large recto-prostatic urethral fistula was found [Figure 5] and closed. Two weeks after PSARP, he was started on an anal dilatation regime. Six weeks after PSARP, the stoma was closed. All the surgical procedures were uneventful and at present the patient is doing well and is on regular follow-up.
|Figure 5: Intra-operative photograph showing the recto-prostatic urethral fistula|
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| Discussion|| |
'Delayed presentation' of ARM, this term has been used by some authors to refer to patients who present after the first 24 h, while others refer to patients who present after the first week of life, except for female patients with low ARM, where presentation beyond 6 months of age is considered as delayed. On the contrary, some authors consider delayed presentation of ARM in newborns as those who were discharged from the hospital without being diagnosed or referred to a pediatric surgeon. ,, In previous studies, even patients who have undergone inadequate surgical treatment in the early neonatal period have been considered as delayed presenters. Hence, we would put forth the term of 'delayed primary presentation' where the patient has presented for the first time without having undergone any surgical intervention previously.
In developed countries, delayed presentation of uncorrected ARM is an uncommon event because of routine neonatal examination before discharge from hospitals.  In developing countries like India, a large number of births are home deliveries, assisted by untrained or non-medical persons.  Therefore, ARMs may be missed at birth and initial presentation may be during infancy or even later in childhood, especially if there is no acute intestinal obstruction or associated congenital malformations.
In previously published literature, most of the patients of ARM with delayed diagnosis were female patients with vestibular fistulas or male patients who had low type ARM. ,,, However, this was not the case in our patient, a male child with high ARM. Male patients with high ARM usually have a narrow fistulous communication between the rectum and the urinary tract, which does not allow the bowel to decompress. 
Our patient had a home delivery in a remote district area in Uttar Pradesh in India which is inaccessible to specialized medical care. The parents were wrongly advised by the village hakim (village doctor) to seek treatment at one year of age. Most common causes of delayed presentation in previous reports include wrong advice, inadequate treatment and social causes which include poverty and illiteracy. , The most common presenting symptoms in cases of delayed ARM were chronic constipation, abdominal distension and vomiting.  Some authors have reported that the abnormally placed anal opening and chronic constipation which had become worse and refractory to medical treatment around the time of dietary change from breast milk to formula feeds to be the most common presenting symptoms due to difficulty in passing more solid stool.  The relative absence of the symptoms in our patient except for abdominal distension despite high type of ARM may be attributed to the wide fistulous communication between the rectum and the urinary tract and that he was still on exclusive breast feeds and used to pass liquid to semisolid stools.
Single stage PSARP has been attempted successfully in a five month old male child with high ARM, the previous oldest case of delayed presentation of male high ARM.  Our patient was malnourished and presented with abdominal distension, hence we adopted the traditional 3 stage repair with a decompressing colostomy done in the 1 st stage.
Delay in diagnosis of ARM may lead to early complications like abdominal distension, vomiting, dehydration, intestinal perforation, respiratory distress, sepsis and even death. Late complications like megarectum, megacolon require decompression in the form of a stoma and may cause poor functional outcome of the definitive repair. 
This case is unusual because it is the oldest age of presentation of a male child with high ARM for any surgical intervention. The previous oldest case, as mentioned previously was a 5 month old male child. This case also highlights the requirement for improvement in not only literacy, but also basic health care, awareness of the general population and the medical fraternity about common congenital anomalies, and an efficient referral system to tertiary care in India. Training of traditional 'dais' or trained birth attendants, who conduct home deliveries, to detect congenital anomalies at birth may go a long way in preventing such cases in the future.
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Parag J Karkera
Department of Pediatric Surgery, Room no -440, 4th floor College building, L.T.M.M.C. & L.T.M.G. Hospital Sion, Mumbai - 400 022, Maharashtra
Source of Support: None, Conflict of Interest: None
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]