P2.K216: Bowel dilation and its impact on menstruation: a rare complication of Hirschsprung Disease

Introduction: Hirschsprung Disease (HD) is a rare cause of chronic constipation. This congenital condition stems from disruption of neural crest cell migration, resulting in contraction of the affected colon and dilation of the unaffected colon. HD is primarily considered a diagnosis of the infantile period, but some patients are not diagnosed until later. This report highlights a case in which an adolescent female developed hydrometrocolpos, fluid accumulation and distension of the vagina and uterus, secondarily to HD.

Case Description: Our patient is a 16-year-old female with history of chronic constipation since toddler age, which included prior admissions for constipation, who presented to the emergency room for intermittent sharp pain between her tailbone and anus. She had also experienced recent weight loss, irregular and heavy menses, and fatigue. Prior to this, her menses had been regular and uneventful. Pelvic and abdominal imaging revealed stool and severe distension of the rectosigmoid colon (measuring 11.5 cm in the rectum), anterior displacement of the bladder and uterus, hydronephrosis, and hydrometrocolpos, which was not present on prior imaging. She was admitted for GoLYTELY clean-out, manual disimpaction, and rectal biopsy by Surgery. Work-up included thyroid studies, spinal MRI, celiac studies, and lead level which were all normal. MRI pelvis was obtained after manual disimpaction and did not show any internal cause for her hydrometrocolpos, indicating that this was likely due to chronic external compression from her stool burden. Rectal biopsy results revealed Hirschsprung Disease. A sigmoid colostomy was subsequently performed, and she was discharged.

Discussion: Although rare, some children are not diagnosed with HD until well after the infantile period. These children present with severe and possibly debilitating chronic constipation, which can cause many complications. Many factors, including diet and behavior, may make it difficult to diagnose an underlying cause of a patient's chronic constipation. In patients suffering from chronic constipation due to HD, a delayed diagnosis can prevent them from receiving effective long-term treatment, surgery, in a timely manner, and allow for further progression of symptoms and subsequent complications. Our patient did not have menstrual irregularities or evidence of hydrometrocolpos previously, and after undergoing manual disimpaction to alleviate stool burden, her hydrometrocolpos resolved. Our team determined that her massive stool burden, which had increased over time, led to hydrometrocolpos as a result of untreated HD.

Conclusion: The occurrence of hydrometrocolpos secondarily to HD in an otherwise typical adolescent does not appear to have been previously documented in peer-reviewed literature. The aim of this case report is to highlight a rare complication of HD, further examine the impact of a delayed diagnosis of HD on adolescents, and outline signs of HD in non-infantile patients with chronic constipation for pediatricians to improve not only patients’ outcomes, but also patients’ quality of life.