Division of General Internal Medicine, Department of Primary Care & Family Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, State Key Laboratory of Complex Severe and Rare Diseases (Peking Union Medical College Hospital), Beijing, 100730, China.
Department of Gastroenterology, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Science (CAMS) and Peking Union Medical College (PUMC), Beijing, 100730, China.
BMC Gastroenterol. 2022 Jun 27;22(1):316. doi: 10.1186/s12876-022-02376-w.
Allied disorders of Hirschsprung's disease (ADHD) mainly present with bowel obstruction, intestinal dilatation, and chronic constipation, while recurrent spontaneous pneumoperitoneum was rarely reported. We aimed to report a case of recurrent spontaneous pneumoperitoneum caused by ADHD.
A 59-year-old female patient presented with progressive and severe constipation in the past 30 years. She suffered from abdominal discomfort, which was described as 'gurgling' during the last three years. Radiography showed free-air and intestinal dilatation, without any other diseases, and she was identified with recurrent spontaneous pneumoperitoneum. Gastrointestinal transit test indicated gastrointestinal motility disorder, and anorectal manometry confirmed the presence of rectal anus-suppressing reflex. Subtotal colectomy was performed to relieve apparent constipation, and the postoperative pathological examination of the colon demonstrated proliferation of nerve fibers and hyperplasia of myenteric plexuses, as well as a relatively scarcity of ganglion cells in the myenteric plexus. Based on the presentations and the postoperative pathology, she was diagnosed with ADHD. The recurrent spontaneous pneumoperitoneum was regarded as the gas escape from dilated intestines, which was in high pressure. All the symptoms and her mental state were improved after the treatment with gastrointestinal decompression and enteral nutrition. However, during follow-up visits, she had intestinal infection, and suffered from severe diarrhea and water-electrolyte imbalance, and the patient eventually died at 17 months after the diagnosis.
ADHD could be a rare cause of recurrent spontaneous pneumoperitoneum, and are mainly undiagnosed or misdiagnosed. A full-thickness biopsy of the gastrointestinal tract (especially the small intestine and sigmoid colon) and differential diagnosis are recommended for the definitive diagnosis. While the ADHD have shown a poor prognosis, timely and long-term treatment with intestinal decompression and nutritional therapy could help relieve symptoms and provide a better quality of life for such patients.
先天性巨结肠相关疾病（ADHD）主要表现为肠梗阻、肠扩张和慢性便秘，而反复自发性气腹则很少报道。我们旨在报告一例由 ADHD 引起的反复自发性气腹。
一名 59 岁女性患者，过去 30 年来逐渐出现严重便秘。她有腹部不适，近 3 年来这种不适被描述为“咕咕”声。影像学检查显示有自由气和肠扩张，没有其他疾病，被诊断为反复自发性气腹。胃肠传输试验提示胃肠动力障碍，肛门直肠测压证实存在直肠肛门抑制反射。行全结肠切除术以缓解明显的便秘，术后结肠病理检查显示神经纤维增生，肌间神经丛增生，肌间神经丛神经节细胞相对稀少。根据临床表现和术后病理，诊断为 ADHD。反复自发性气腹被认为是扩张肠内气体逸出，压力较高。胃肠减压和肠内营养治疗后，所有症状和精神状态均改善。但在随访过程中，患者发生肠道感染，出现严重腹泻和水电解质失衡，最终在诊断后 17 个月死亡。
ADHD 可能是反复自发性气腹的罕见病因，主要是未被诊断或误诊。建议对胃肠道（特别是小肠和乙状结肠）进行全层活检和鉴别诊断，以明确诊断。虽然 ADHD 预后较差，但及时和长期的肠道减压和营养治疗有助于缓解症状，为患者提供更好的生活质量。
