congenital pouch colon ( cpc ) is a relatively rare form of ano - rectal malformation ( arm ) in which part or whole of colon is converted into a pouch - like dilatation that ends blindly and communicates with the urogenital tract by means of a fistula[1 , 2 ] .
pathogenesis and embryology of cpc are not well understood , but dietary , environmental and familial factors have been hypothesized to contribute to the pathology .
high number of cases with increased fetal death rate ( 10 - 33% ) of type iv cpc has been reported .
renal agenesis , i.e. , absence of one or both of the kidneys , is often incidentally diagnosed by abdominal ultrasound or computed tomography ( ct ) scans secondary to another condition or during routine investigation for other diseases like arm .
absence of one or both testes in a phenotypic male with normal karyotype is defined as congenital anorchism .
the present study was aimed at reporting a rare case of type iv congenital pouch colon with associated anomaly of unilateral anorchism along with unilateral renal agenesis .
a 1-day old male baby , born of non - consanguineous marriage and from a low economic family , was admitted with history of gradual distention of abdomen , bilious vomiting and failure of passage of meconium with meconuria and pneumaturia since birth .
the baby was delivered normally at the 39 week of gestation ( bw 2.25 kg ; apgar score 5 - 7 ) by a young mother ( 20 yrs ; primigravida , primipara ) in a peripheral health center .
the baby had normal body temperature , high respiratory rates and racing pulse with depressed neonatal reflexes .
physical examination revealed a flat bottom with no anal opening and normal genitalia with empty right scrotal sac .
abdominal examination revealed distended flanks with bulged umbilicus , tympanic on percussion , and sluggish peristaltic sound .
routine blood count revealed normal hemogram and total cell counts with normal renal function test .
the invertogram in ap and lateral view showed a large globular loop of bowel with single air fluid level occupying more than 50% of the total abdominal width .
abdominal and perineal sonogram showed absence of left kidney and right testis with air in urinary bladder .
analysis of peripheral blood leukocytes cultured for 72 hrs in presence of mitogen , revealed normal male child with 46,xy karyotype ( fig .
karyotype of the subject studied by gtg - banding analysis anorectal malformation ( arm ) with recto - vesical or recto - prostatic urethral fistula .
exploratory laparotomy , done on the 2-day old baby , confirmed type iv cpc communicating with bladder neck .
associated malrotation of the midgut without volvulus was detected and left renal fossa was empty .
pouch was excised and low descending colostomy performed , malrotation was corrected ( ladd 's procedure ) and appendectomy done . neither testicular tissue nor structures of spermatic cord was detected in the right posterior abdominal wall .
anorectal malformation ( arm ) with recto - vesical or recto - prostatic urethral fistula .
exploratory laparotomy , done on the 2-day old baby , confirmed type iv cpc communicating with bladder neck .
associated malrotation of the midgut without volvulus was detected and left renal fossa was empty .
pouch was excised and low descending colostomy performed , malrotation was corrected ( ladd 's procedure ) and appendectomy done . neither testicular tissue nor structures of spermatic cord was detected in the right posterior abdominal wall .
congenital pouch colon is an uncommon type of arm which has been studied in detail in recent times .
higher numbers of cpc cases were reported from india as compared to other countries[2 , 57 ] .
types i , ii and iii cpc are usually diagnosed during preoperative evaluation period in arms and there are typically large air fluid levels in plain abdominal x - ray[2 , 810 ] .
however , type iv cpc does not have a characteristic appearance on plain x - ray and was diagnosed during surgery for colostomy[3 , 10 ] .
a few earlier reports have shown the presence of abnormal histology in the excised colon . however , in the present case , excised pouch histopathology revealed presence of normal muscle tissue as well as few ganglion cells .
incidence of associated cardiac , vertebral and genitourinary anomalies is very high in cpc and therefore , evaluation of these systems is mandatory in all cases of arm , more so in suspected cases of cpc[2 , 12 ] .
increased risk of fetal renal agenesis or dysgenesis was observed in mothers addicted to alcohol , smoking etc[14 , 15 ] .
lower maternal weight gain during pregnancy has also been reported . in the present case , while no association with addiction was observed , a history of suboptimal maternal weight gain during antenatal period was noticed .
diagnosis of congenital anorchia is suspected in a patient exhibiting male external genitalia , 46,xy karyotype together with absence of testis in scrotal sac .
surgical exploration performed to repair the cpc in the present case failed to find any testicular elements or mullerian structures confirming diagnosis of unilateral congenital anorchia on the right side .
though the incidence of cpc is increasing , to the best of our knowledge , presence of type iv cpc with renal agenesis and monorchism in a male boy with normal karyotype is an extremely rare presentation and is described here to bring up to date of the medical fraternity .
 backgroundcongenital pouch colon , also known as congenital short colon or  
 pouch colon syndrome  , is a rare condition that occurs in association with anorectal malformations ; colon is either partially or completely replaced by pouch - like dilatation and communicates with the urogenital tract by means of a fistula . 
 this anomaly is exclusively seen in northern parts of india with only a few cases reported from elsewhere.case presentationa 1-day old neonate was presented with abdominal distension due to lack of passage of meconium . 
 clinical and radiological investigations revealed ano - rectal malformation . 
 incidental findings were left sided renal agenesis and right sided anorchia . 
 laparotomy revealed congenital pouch colon which was dealt accordingly . 
 the baby is now healthy and awaiting further reconstructive surgery.conclusionalthough urogenital anomalies are not uncommon with congenital pouch colon , the finding of renal agenesis with unilateral anorchia is quite rare . 
Introduction
Case Presentation
Differential Diagnosis
Results and Analysis
Follow Up
Discussion
Conclusion