Rare presentation and retrograde diagnosis of total colonic aganglionosis in a female infant: a case report

Abstract

Background Total colonic aganglionosis is an extremely rare variant of Hirschsprung’s disease, which is predominant in males and can be seen in 1:50,000 live births. The presented case not only depicts a rare case, but also unusual clinical, laboratory, and instrumental data. Case presentation A 2-day-old Caucasian female newborn was transferred to our hospital from maternity. The initial presentation was reverse peristalsis, abdominal distention, and inability to pass stool. Fever had started before the patient was transferred. Hirschsprung’s disease was suspected, and tests such as contrast enema and rectal suction biopsy were done. Before enterostomy, the management of the disease included fluid resuscitation, colonic irrigation, antibiotic administration, enteral feeding, and supportive therapy. During ileostomy operation, no transition zone was visualized and full-thickness biopsy samples were retrieved from the rectum and descending colon. After surgical intervention, status significantly improved—defervescence and weight gain most importantly improved. Conclusion It is well known that diagnosis of total colonic aganglionosis may be delayed for months or even years since the transition zone may not be visible and rectal suction biopsy, unlike full-thickness biopsy, is not always reliable. It might be more prudent not to be derailed because of negative radiography and rectal suction biopsy. Also, doctors should be more suspicious of the disease if signs and symptoms are starting to be consistent with Hirschsprung-associated enterocolitis, despite biopsy and radiology results.

A Rare Case Presentation on Total Colonic Aganglionosis in a Female Infant of Indian Origin

“…A whole genome sequence analysis study in an Asian population proposed an association of BACE2 (OR: 7.3) with Hirschsprung's disease based on sequencing result inferences from an ethnically matched case-control study [10]. Aligning with recent research by Chakhunashvili et al and other scholars [3,11], we advocate for a comprehensive diagnostic approach and a thorough risk factor analysis in the case management and diagnosis of total colonic aganglionosis.…”

“…Diagnosis based on histological findings from intestinal sections, ileum, and appendix biopsy samples remains a topic of debate among researchers [ 8 , 9 ]. Some researchers advocate for caution in the diagnosis, expressing reservations about Hirschsprung's disease, emphasizing the importance of consistent clinical presentations irrespective of radiological and biopsy findings [ 3 ].…”

“…Various therapeutic management procedures for addressing this condition are documented in the research literature [ 2 ]. It has predominantly been observed in males [ 3 , 4 ]. Here, we present a case involving a female infant diagnosed with total colonic aganglionosis.…”

“…However, in cases of long-segment disease, this ratio decreases to 2:1 [ 2 ]. In instances of long-segment Hirschsprung's disease, the gender ratio evens out to 1:1 [ 3 ]. In a sample of Hirschsprung's disease patients, there were 14 females for every 25 males [ 1 ].…”