Retrograde diagnosis of total colonic aganglionosis in a female infant: a rare presentation

Hirschsprung's disease (HD) is characterized by the absence of ganglion cells in the colonic nerve plexuses, leading to colonic spasticity and obstruction. It can be classified into three groups based on the length of the aganglionic region: total colonic aganglionosis (TCA), short-segment aganglionosis, and long-segment aganglionosis. Diagnosis is important in cases of constipation in infants and children.

A 2-day-old female neonate presented with fever, significant abdominal distention, inability to pass stools, and reverse peristalsis. Her family history was insignificant for Hirschsprung's disease or any other genetic condition. 

Adequate stimulation was conferred immediately, which led to defecation; further, reverse peristalsis ceased, and abdominal distention (circumference) reduced. 

Thereafter, the baby was resumed on enteral feeding. However, she was unable to pass stools without stimulation. Rectal examination revealed no explosive gas and/or fluid release, and the rectum devoid of feces. 

A contrast enema was initiated on day 4; within the next 2 days, the neonate had a high fever. The fever progressed, leading to increased heart and respiratory rates. Additionally, livedo reticularis and significant abdominal distension precipitated. However, these complications did not attenuate with defecation. 

Digital rectal examination became positive for explosive gas release after 3 weeks of hospitalization. The delayed meconium passage and abdominal distention raised suspicion of HD. Despite inconclusive results from a contrast enema and rectal suction biopsy, functional constipation was ruled out due to the absence of stool passage and evidence of protein loss and poor weight gain. Other potential causes of constipation were considered or excluded.

The patient's condition worsened after the contrast enema, leading to a diagnosis of Hirschsprung-associated enterocolitis. However, due to negative histology and radiology results, there was a delay in recognizing this condition. 

Eventually, surgical intervention, namely an enterostomy, was performed after 75 days of hospitalization. Radiography, laboratory assessments, and biopsy played critical roles in confirming the diagnosis. The second biopsy confirmed total colonic aganglionosis, leading to appropriate treatment.

The therapeutic approach included fluid resuscitation, colonic irrigation, antibiotics, enteral feeding, and supportive therapy. Following surgery, the patient showed clinical improvement with resolution of fever and significant weight gain.

Diagnosing Hirschsprung's disease (HD) – a condition characterized by the absence of ganglion cells in the colonic nerve plexuses, can be challenging and relies on various diagnostic methods. These include barium enema, anorectal manometry, and biopsy, with the latter being considered the gold standard. Anorectal manometry may be difficult to perform in infants, while the hallmark of HD, the transition zone, is often hard to visualize. The primary treatment for HD is resection of the aganglionic colon segment, followed by temporary ostomy.

After surgery, the patient showed signs of improvement, including weight gain, resolution of fever, and the ability to pass stools through the stoma without assistance.

This case highlights the challenges in diagnosing total colonic aganglionosis (TCA) in infants, which can lead to delayed diagnosis. It suggests that interventions should be considered sooner in cases where there is strong clinical evidence, even if the transition zone is not visible or rectal suction biopsy results are negative. These challenges are particularly relevant in resource-poor settings.

Source: Chakhunashvili K, Chakhunashvili DG, Kvirkvelia E, et al. Journal of Medical Case Reports. 2023 Apr 8;17(1):128.