ACTG2 associated visceral myopathy with intestinal pseudoobstruction
2021
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。.
- Correction
- Source
- Cite
- Save
- Machine Reading By IdeaReader
0
References
0
Citations
NaN
KQI