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Article

[ACTG2 associated visceral myopathy with intestinal pseudoobstruction].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Apr 2021

Shen M X, Zhao C, Wang Y J, Xin X W, Yin Y, Jin Y P

Abstract excerpt

1岁11月龄患儿以腹胀、呕吐起病，临床表现为腹腔高压综合征、重度营养不良，腹部影像学检查提示肠梗阻，剖腹探查见所有肠道严重扩张，未见机械性梗阻，回肠造瘘术后仍有腹胀，后全外显子组基因检测提示为ACTG2基因c.769C>T； p.Arg257Cys突变，诊断为原发性内脏肌病致假性肠梗阻。该病临床罕见，预后差，目前以对症支持治疗为主。当患儿出现顽固性难治性腹胀且排除机械性肠梗阻时，需考虑此病，早期基因检测可明确诊断。.

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Identifiers

PMID: 33775056
DOI: 10.3760/cma.j.cn112140-20200919-00889

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