[Congenital microvillus inclusion disease in a child]

Zhonghua Er Ke Za Zhi. 2020 Nov 2;58(11):939-941. doi: 10.3760/cma.j.cn112140-20200521-00525.
[Article in Chinese]

Abstract

1例先天性微绒毛包涵体病患儿主要表现为持续性水样腹泻、间断腹胀、早期反复低血糖、营养不良、代谢性酸中毒及电解质紊乱，肠内喂养可导致腹泻加重，需长期静脉营养维持生命。全外显子组基因检测提示MYO5B基因杂合变异c.320T>C（p.L107P）和c.947-2A>G，分别遗传自母亲和父亲（均为杂合变异），均未被报道。病理检查结果显示胃肠镜大体观正常，呈慢性炎症活动性改变。.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Humans
  • Malabsorption Syndromes*
  • Microvilli / pathology*
  • Mucolipidoses* / diagnosis
  • Mucolipidoses* / genetics

Supplementary concepts

  • Microvillus inclusion disease