Y type urethral duplication (YUD) is a rare complex congenital malformation constituting 6 to 30 % of all urethral duplications [1]. Anorectal malformations (ARM) are relatively common congenital defects with an incidence ranging between 1 in 2000 to 1 in 5000 live births.[2] Very few cases of duplication of urethra with ARM have been reported in literature. Infantile Hypertrophic pyloric stenosis (IHPS) is a rare disorder with an average incidence of 0.17 to 4.4 per 1000 live births in the world.[3] It is associated with other congenital defects like Esophageal atresia, AnoRectal malformation, GIT malformations, Urinary Tract malformations as per the available literature with no definite consensus over their incidence

We report a case of Y type Urethral duplication with perineal (cutaneous) fistula i.e. ARM presenting with clinical features ofIHPS. No such case has yet been reported in literature as per our knowledge.

A full term 1st born male child through spontaneous vaginal delivery presented with complaints of projectile non-bilious vomiting post feeding since birth at 25 days of age to our institution. Physical examination revealed a palpable pyloric lump with visible epigastric right to left peristalsis, thus diagnosing a case of infantile hypertrophic pyloric stenosis with no signs of shock or dehydration. On further physical examination, at the perineum, revealed normal well-formed phallus with atretic native urethra (orthotopic urethra) accepting only 24 number cannula, a bifid scrotum with a single perineal opening at the base of scrotum through which the child was passing urine as well as stool with absence of normal anal opening. The parents were unaware of the perineal anatomical anomalies. The child underwent USG (abdo + pelvis) which revealed a thickened pylorus with bilateral multicystic dysplastic kidney. Child was diagnosed as a case of IHPS with Y type urethral duplication with perineal cutaneous fistula (ARM

Figure 1: On Clinical examination of perineum revealed a bifid scrotum with single perineal opening (white arrow) with absence of normal anus

MANAGEMENT

A multistep surgical approach was chosen for the child to deal with the three anomalies in sequential manner.

Stage 1: First for the IHPS, the child underwent open Ramsteadt pyloromyotomy with sigmoid loop colostomy for fecal diversion. Child was discharged after the colostomy was functional and was kept under monthly follow up. The child gained weight appropriate for age with normal developmental milestones on monthly follow up visits.

Stage 2: At 5 months of age, when the child had adequate weight gain for age, the child underwent Anterior Sagittal Anorectoplasty (ASARP) for separation of the ventral urethra from the rectum and to create neo-anus (figure 2- 5).

Urethral duplication is a rare congenital anomaly. Approximately only 300 cases have been reported till date [4,5,6]. Various theories exist regarding its embryogenesis but none of them can completely justify its pathogenesis and varying anatomical manifestations. Hence, it is not possible to formulate surgical treatment protocols and each case has to be managed in a customized manner as per the anatomy. The most commonly used classification for urethral duplication is Effmann classification[7] which divides urethral duplication into incomplete (type 1), complete duplications (type II) and duplications as a component or complete caudal duplication (type III).

Y type urethral duplication is classified as type IIA which is characterized by a stenotic orthotopic urethra and a functional ventral urethra[8] originating at bladder neck/ posterior urethra and opens into perineum/ inside rectum or anus. Clinically it presents as urination through anus or perineum with thin stream/ no urination from the atretic orthotopic urethra. Genito-urinary and GIT anomalies are often associated with YUD[9]. As of now, there is no consensus on the definitive management strategy for YUD. In our case the YUD was managed by a single stage urethroplasty and scrotoplasty with no immediate or delayed complications like urethral stenosis, neourethra dehiscence.

ARM are relatively commoner congenital anomalies which can present with wide range of anatomical configuration ranging from simple perineal fistula to complex cloaca. The exact aetiology of ARM is not clear and involves multiple factors and is associated with other defects like VACTERAL. Diagnosis can be made by a mandatory perineal examination of all neonates supported by imaging modalities like invertogram, USG. Management of the ARM either constitutes a multistaged approach with diversion colostomy or single stage definitve management depending on the general condition of the patient, time of presentation, anatomical defect, surgeon’s experience. Perineal fistulas are traditionally “low “defects where the rectum opens in a small/stenotic anteriorly located opening with normal sphincter mechanism. In our case the child had a similar recto-perineal fistula along with opening of orthotopic urethra into it. A multi-staged approach with diversion colostomy was chosen for reducing the risk of infection and dehiscence during further stages and improving the final outcome rather than a single staged definitive repair.[10]

Most common condition in infants requiring surgical intervention is IHPS which is characterized by hyperplasia of smooth muscle fibers in antropyloric region of stomach causing a thick pyloric canal and subsequent gastric outlet obstruction. The exact etiology of this disorder is still not known and both genetic as well as environmental factors are considered in its pathogenesis. Typically, the child presents with projectile non bilious vomiting starting at 4 to 6 weeks of age which progressively worsens. Due to repeated vomiting and delay in treatment the child may show signs of dehydration. On clinical examination, a palpable olive mass is pathognomic of IHPS. Metabolic hypochloremic alkalosis is a common electrolyte imbalance seen in IHPS and has to be corrected before definite surgical management. USG has become a reliable tool for diagnosing IHPS with findings of >15mm length of pylorus or > 3mm thickness [11]. Ramstedt extra-mucosal pyloromyotomy remains the gold standard for management of IHPS[12]. In our case the child underwent open Ramstedt pyloromyotomy along with sigmoid colostomy.

This is a first case report of YUD with ARM presenting with IHPS in the available literature as per our knowledge. As the exact etiopathogenesis of the above 3 anomalies is not exactly known, it is difficult to comment on whether these anomalies have a common cause. We emphasize on thorough physical examination of any neonate/ infant to look for anomalies before the management strategy is decided in all cases. There are no definitive management protocols for repair of YUD and each case must be managed individually as per the anatomical configuration.

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