Pseudoileus caused by primary visceral myopathy in a Han Chinese patient with a rare MYH11 mutation:A case report  

作　　者：Na Li Yi-Ming Song Xian-Da Zhang Xue-Song Zhao Xiang-Yi He Li-Fen Yu Duo-Wu Zou 

机构地区：[1]Department of Geriatrics,Qinghai Provincial People’s Hospital,Xining 810007,Qinghai Province,China [2]Department of Gastroenterology,Fenghua District People’s Hospital,Ningbo 315000,Zhejiang Province,China [3]Medical College,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China [4]Department of Radiology,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China [5]Department of Gastroenterology,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China

出　　处：《World Journal of Clinical Cases》2022年第34期12623-12630,共8页世界临床病例杂志

摘　　要：BACKGROUND Chronic intestinal pseudo-obstruction(CIPO)is a syndrome of intestinal motor dysfunction caused by intestinal nerve,muscle,and/or Cajal stromal cell lesions.CIPO is a serious category of gastrointestinal dynamic dysfunction,which can eventually lead to the death of patients with intestinal failure.Due to considerable phenotypic heterogeneity,the estimated incidence of CIPO is 1/476190 and 1/416666 in men and women,respectively.According to the etiology,CIPO can be divided into idiopathic and secondary,of which the latter is the most common,often secondary to tumor,virus infection,connective tissue disease,neurological diseases,and endocrine diseases.Idiopathic CIPO in the intestinal tract is divided into visceral myopathy,neuropathy,and stromal cell lesions according to the location.Surgery is usually not recommended for CIPO,because it often does not benefit patients with CIPO,and postoperative intestinal obstruction is likely to occur,which may even worsen the condition.CASE SUMMARY Here,we describe the case of a 43-year-old male Han Chinese patient with a 15-year history of recurrent abdominal distention with no clear cause.The results of physical,biochemical,and other relevant examinations showed no clear abnormalities.Contrast-enhanced computed tomography(CT)indicated a large duodenum,clear expansion of the intestinal lumen,and CIPO.Whole exome sequencing(WES)of the patient and his mother confirmed the diagnosis of primary familial visceral myopathy type 2 chronic pseudoileus with a rare heterozygous gene mutation in MYH11.This is the second reported case of CIPO with a heterozygous MYH11[NM_001040113.1:c.5819delC(p.Pro1940Hisfs*91)]mutation.CONCLUSION This case report indicates that physicians can perform routine clinical examinations,CT,and WES to achieve a diagnosis and treatment of CIPO in early disease stages.

关 键 词：Pseudoileus Heterozygous MHY11 gene mutation Whole exome sequencing Contrastenhanced computed tomography Case report 

分 类 号：R574.2[医药卫生—消化系统]