DIAGNOSIS AND LATE TREATMENT OF HIRSCHSPRUNG'S DISEASE: CASE REPORT.

Abstract

Hirschsprung's disease (HSCR) is defined as a gastrointestinal motility disorder resulting from defective migration of the neural crest cells during fetal intestinal development. There are no pathognomonic radiological signs for such a condition, and definitive diagnosis can only be obtained by histopathological examination. Some patients may present a milder form of this disease, leading to late diagnosis. Immediate surgical intervention is of utmost importance and its main objectives are resecting the affected segment of the rectum and colon, bringing the normal ganglionated intestine to an anastomosis in the distal rectum near the anus, and preserving the internal anal sphincter role. Through medical case reports evaluation, it is aimed to present the clinical aspects that require investigation for the disease under study and to elucidate the approach and treatment carried out by the coloproctology medical team of the Hospital Baleia, Belo Horizonte, Brazil. To disseminate further information regarding early diagnosis and appropriate treatment for HSCR, the present work is focused on two female patients, aged 15 and 16, diagnosed with Hirschsprung's disease, both with a case history of chronic constipation, abdominal distension, frequent colic, impaired bowel habits, and attempts to alleviate symptoms with laxatives, suppositories, and enemas. Both patients underwent abdominal rectosigmoidectomy as a treatment. Data was collected by analyzing medical records, following consent from the patients and their legal guardians. It is worth mentioning that this research was only initiated after obtaining approval from the Ethics and Research Committee of Baleia Hospital and obtaining the Informed Consent and Acceptance Declaration from the patients and their legal guardians. In addition, a literature review was also conducted to improve the understanding of the described disorder. Through these methods, substantial data were collected regarding patients' medical signs and symptoms, epidemiology, risk factors, proper diagnostic procedures, treatment options, disease progression, and potential impacts on individuals' quality of life.