Anorectal Malformations are known to be associated with various other congenital anomalies including duodenal atresia. An association of congenital intrinsic duodenal obstruction causing partial duodenal obstruction in a patient with anorectal malformation is not described in literature. We describe a case of delayed presentation of congenital intrinsic duodenal obstruction in a child with high-type anorectal malformations causing diagnostic dilemma.
The association of duodenal obstruction is described in about 1% - 2% of patients with Anorectal Malformations (ARMs) [
A 10-month-old male infant presented to pediatric emergency department with history of recurrent vomiting and failure to thrive. His height and weight was below third percentile for his age. He also had multiple hospitalizations for his recurrent vomiting and till today was able to tolerate only liquids in between these episodes. On examination, he was mildly dehydrated and his upper abdomen was full and soft. His perineal examination revealed an anal opening of adequate in size and shape with good muscle complex. He also had bilateral palpable undescended testis. The records of previous hospitalizations and surgeries revealed that he was born with high-type ARM and had sigmoid colostomy in neonatal period followed by laparoscopic assisted anorectoplasty at 6- months of age and later reversal of stoma. He had mild hydrocephalus (arrested) with no spinal malformations.
After assessment and stabilization, his plain X-ray abdomen revealed dilated stomach and duodenum with minimal air in the proximal bowel loops suggesting incomplete bowel obstruction. His upper gastrointestinal (GI) contrast study showed grossly distended stomach and 2nd part of duodenum and delayed passage of contrast from duodenum to jejunum (
Children born with ARMs are known to have associated anomalies of other systems 2,8] . The rare association of ARMs with duodenal atresia has also been known [
Children born with CIDO have been reported to have a high incidence of Down syndrome (trisomy 21) and congenital heart defects [
Studies done in animals [
The late presentation of CIDO in our case after finishing all the stages of ARM repair including laparoscopic guided pull-through raises the concern of difficulty in dia-
gnosis of CIDO in absence of Down syndrome. It implies the importance of further evaluation for unrecognized associated anomalies. Also it signifies the extended value of minimal invasive surgery in children to perform a thorough inspection of abdomen in presence of symptoms unrelated to known cause or previous surgical procedures.
In summary, infants with multiple congenital anomalies may not present with classical findings in the first few days of life. A high index of suspicion and careful systemic evaluation in relation to the symptoms is highly recommended in children with complex malformations to avoid the diagnosis of missing anomalies and also to choose the optimal early surgical intervention.