Vohra Saumyaa, Gulati Aryan, Alvi Atif
General Surgery, Gulf Medical University, Ajman, ARE.
General Surgery, King's College Hospital London, Dubai Hills, Dubai, ARE.
Cureus. 2024 Dec 6;16(12):e75229. doi: 10.7759/cureus.75229. eCollection 2024 Dec.
Idiopathic megacolon and megarectum are rare clinical conditions characterized by irreversible dilation of the colon and rectum without an identifiable organic cause. The underlying pathophysiology remains poorly understood, though hypotheses suggest abnormalities in the enteric nervous system or smooth muscle dysfunction. These conditions present significant diagnostic and therapeutic challenges, especially in cases refractory to conservative treatment. We present a case of a 19-year-old male with chronic constipation, progressive abdominal distension, and weight loss over one year, culminating in bowel obstruction. Imaging revealed a massively dilated sigmoid colon and rectum, measuring up to 80 cm in length and filled with approximately 10 kg of fecal matter. The patient underwent a two-stage surgical intervention, including a Hartmann's procedure with sigmoid colectomy and a subsequent completion proctectomy with coloanal anastomosis following symptom recurrence. Histopathological evaluation confirmed the presence of ganglion cells, ruling out Hirschsprung's disease and establishing the diagnosis of idiopathic megacolon and megarectum. Postoperative complications, including a pelvic abscess and surgical site infection, were effectively managed with antibiotics and percutaneous drainage. This case highlights the complexity of diagnosing and managing idiopathic megabowel and emphasizes the importance of individualized surgical interventions. Furthermore, it emphasizes the need for long-term follow-up and calls for further genetic and histological studies to explain the underlying mechanisms and establish standardized management protocols for this challenging condition.
特发性巨结肠和巨直肠是罕见的临床病症,其特征为结肠和直肠不可逆扩张,且无明确的器质性病因。尽管有假说认为是肠道神经系统异常或平滑肌功能障碍,但潜在的病理生理学仍知之甚少。这些病症带来了重大的诊断和治疗挑战,尤其是在对保守治疗无效的病例中。我们报告一例19岁男性患者,有慢性便秘、进行性腹胀及一年多的体重减轻,最终发展为肠梗阻。影像学检查显示乙状结肠和直肠极度扩张,长度达80厘米,充满约10千克粪便。患者接受了两阶段手术干预,包括Hartmann手术联合乙状结肠切除术,以及症状复发后随后进行的根治性直肠切除术及结肠肛管吻合术。组织病理学评估证实存在神经节细胞,排除了先天性巨结肠病,确立了特发性巨结肠和巨直肠的诊断。术后并发症包括盆腔脓肿和手术部位感染,通过抗生素和经皮引流得到有效处理。该病例突出了特发性巨肠诊断和管理的复杂性,并强调了个体化手术干预的重要性。此外,它强调了长期随访的必要性,并呼吁进行进一步的基因和组织学研究,以解释潜在机制并为这一具有挑战性的病症制定标准化管理方案。