PDF(Pubmed)
Abstract：
Pneumatosis cystoides intestinalis (PCI) is a rare disease wherein air accumulates in the intestinal subserosa and submucosa, causing multiple gaseous cysts within the gastrointestinal wall. While PCI has various known risk factors, reports identifying muscular diseases as a factor are scarce. The aim of this study is to elucidate the clinical characteristics of PCI in muscle disease. We present a case series of five cases, including two cases of Duchenne muscular dystrophy (DMD) and three cases of rare congenital myopathies. All cases are of male patients, with poor intestinal peristalsis and constipation, who underwent tube feeding and mechanical ventilation via tracheostomy. They had no signs of severe complications, such as intestinal necrosis, and all of them improved with conservative treatment. Case 1 is a 23-year-old man with DMD who developed cardiopulmonary arrest at the age of 20 years. Pulmonary hemorrhage occurred three months before the incidental detection of PCI in the ascending colon, which resolved with conservative oxygen treatment. Case 2 is a 25-year-old man with DMD who progressed to immobility necessitating tracheostomy at the age of 20 years. He experienced persistent abdominal pain and nausea, and PCI was detected in the cecum and ascending colon. He showed near-complete resolution of PCI after three months of conservative treatment. Case 3 is a six-year-old boy with reducing body myopathy. Constipation was diagnosed at four years of age. He experienced intermittent bloody stools, leading to the incidental detection of PCI at six years of age. After two months of conservative treatment, the PCI resolved with no subsequent recurrence. Case 4 is a 33-year-old man with infantile severe myotubular myopathy. He required mechanical ventilation immediately after birth and later underwent tracheostomy and tube feeding due to complications. At the age of 27 years, PCI was incidentally detected on abdominal CT. He had episodes of remission and worsening for a few years; however, PCI completely resolved after three years. Case 5 is a 27-year-old man with nemaline myopathy. At the age of 14 years, he had persistent bloody stools. After lower gastrointestinal endoscopy, he was diagnosed with PCI with numerous rectal cysts. PCI required no specific therapeutic intervention. There was spontaneous resolution of PCI and bloody stools. Given that PCI lacks specific symptoms and cases with muscular diseases often experience abdominal issues, many cases are liable to be overlooked or misdiagnosed. Cases with muscular diseases complaining of persistent abdominal symptoms should undergo radiographic imaging to rule out PCI.
摘要：
肠囊虫肺炎（PCI）是一种罕见的疾病，其中空气积聚在肠浆膜下和粘膜下层，在胃肠壁内引起多个气态囊肿。虽然PCI有各种已知的危险因素，将肌肉疾病确定为一个因素的报告很少。这项研究的目的是阐明PCI在肌肉疾病中的临床特征。我们提出了一系列五个案例，包括2例Duchenne型肌营养不良症（DMD）和3例罕见的先天性肌病。所有病例均为男性患者,肠蠕动不良和便秘，通过气管造口术接受管饲和机械通气。他们没有严重并发症的迹象，如肠坏死，通过保守治疗，所有这些都得到了改善。病例1是一名患有DMD的23岁男子，在20岁时出现心肺骤停。行升结肠PCI术前3个月发生肺出血,通过保守的氧气治疗解决了。病例2是患有DMD的25岁男子,其在20岁时发展到需要气管造口术的不活动。他经历了持续的腹痛和恶心，在盲肠和升结肠检测到PCI。在保守治疗三个月后，他显示PCI几乎完全消退。病例3是一个六岁的男孩，患有减少的身体肌病。便秘在4岁时被诊断出来。他经历了间歇性的血便，导致6岁时偶然发现PCI。经过两个月的保守治疗,PCI缓解,无后续复发.病例4是一名33岁的婴儿严重肌管肌病。他出生后立即需要机械通气，后来因并发症接受了气管造口术和管饲。在27岁的时候，在腹部CT上偶然发现PCI。他有缓解和恶化的发作几年；然而，PCI在三年后完全解决。病例5是一名27岁的男性，患有线虫肌病。14岁时,他有持续的血泊。下消化道内镜检查后，他被诊断为PCI伴许多直肠囊肿.PCI不需要特定的治疗干预。有PCI和血便的自发消退。鉴于PCI缺乏特定症状，并且肌肉疾病的病例通常会出现腹部问题，许多病例容易被忽视或误诊。抱怨持续腹部症状的肌肉疾病患者应进行影像学检查以排除PCI。
