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

World Journal of Clinical Cases 2022年第34期10卷 12623-12630页

作者： Na Li Yi-Ming Song Xian-Da Zhang Xue-Song Zhao Xiang-Yi He Li-Fen Yu Duo-Wu Zou Department of Geriatrics Qinghai Provincial People’s HospitalXining 810007Qinghai ProvinceChina Department of Gastroenterology Fenghua District People’s HospitalNingbo 315000Zhejiang ProvinceChina Medical College Shanghai Jiao Tong University School of MedicineShanghai 200025China Department of Radiology Ruijin HospitalShanghai Jiao Tong University School of MedicineShanghai 200025China Department of Gastroenterology Ruijin HospitalShanghai Jiao Tong University School of MedicineShanghai 200025China

BACKGROUND Chronic intestinal pseudo-obstruction(CIPO)is a syndrome of intestinal motor dysfunction caused by intestinal nerve,muscle,and/or Cajal stromal cell *** is a serious category of gastrointestinal dynamic dysfunction,which can eventually lead to the death of patients with intestinal *** to considerable phenotypic heterogeneity,the estimated incidence of CIPO is 1/476190 and 1/416666 in men and women,*** 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 *** CIPO in the intestinal tract is divided into visceral myopathy,neuropathy,and stromal cell lesions according to the *** 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 *** 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 *** results of physical,biochemical,and other relevant examinations showed no clear ***-enhanced computed tomography(CT)indicated a large duodenum,clear expansion of the intestinal lumen,and *** 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 *** is the second reported case of CIPO with a heterozygous MYH11[NM_001040113.1:c.5819delC(***1940Hisfs*91)]*** 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

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