Huang Cheng, Gao Zhichao, Zhang Yuhang, Li Guofeng, Ge Lida
Department of Colorectal Surgery, First People's Hospital of Xiaoshan District, Hangzhou, Zhejiang, China.
Department of Neurosurgery, First People's Hospital of Xiaoshan District, Hangzhou, Zhejiang, China.
Front Med (Lausanne). 2024 Dec 4;11:1456246. doi: 10.3389/fmed.2024.1456246. eCollection 2024.
Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder primarily affecting cardiac and skeletal muscles, with gastrointestinal obstruction being an infrequent complication.
We present a 17-year-old boy with DMD (G-to-T transversion at c.4150 in the gene encoding dystrophin protein) who developed severe colonic obstruction due to fecal impaction. Abdominal computed tomography revealed an obstructing fecalith in the left colon (length: 39.5 cm, width: 18.3 cm, height: 12.7 cm). Despite the application of initial conservative measures including fasting, enemas, and fluid resuscitation, the obstruction persisted. Therefore, we performed manual disimpaction and endoscopic injection of hydrogen peroxide, effectively alleviating the obstruction.
This case underscores the necessity of devising stage-specific, tailored strategies for the prevention and management of gastrointestinal complications in patients with DMD.
杜氏肌营养不良症（DMD）是一种X连锁隐性遗传病，主要影响心肌和骨骼肌，胃肠道梗阻是一种罕见的并发症。
我们报告一名17岁的DMD男孩（抗肌萎缩蛋白基因c.4150处发生G到T的颠换），因粪便嵌塞导致严重的结肠梗阻。腹部计算机断层扫描显示左结肠有一个阻塞性粪石（长：39.5厘米，宽：18.3厘米，高：12.7厘米）。尽管采取了包括禁食、灌肠和液体复苏在内的初始保守措施，但梗阻仍然存在。因此，我们进行了手动排便和内镜下注射过氧化氢，有效缓解了梗阻。
该病例强调了为DMD患者制定针对不同阶段的、量身定制的胃肠道并发症预防和管理策略的必要性。
