[Abernethy malformation associated with COACH syndrome in a patient with TMEM67 mutation: a case report]

B Zhu; H Tian; F J Song; D Z Li; S H Liu; J H Dong; S Lyu; S L You

doi:10.3760/cma.j.cn112138-20220107-00019

[Abernethy malformation associated with COACH syndrome in a patient with TMEM67 mutation: a case report]

Zhonghua Nei Ke Za Zhi. 2022 Sep 1;61(9):1052-1055. doi: 10.3760/cma.j.cn112138-20220107-00019.

[Article in Chinese]

Authors

B Zhu¹, H Tian¹, F J Song¹, D Z Li¹, S H Liu¹, J H Dong¹, S Lyu¹, S L You¹

Affiliation

¹ Department of Hepatology, the Fifth Medical Center,Chinese PLA General Hospital, Beijing 100039, China.

PMID: 36008300
DOI: 10.3760/cma.j.cn112138-20220107-00019

Abstract

COACH 综合征与Abernethy畸形的关联全球鲜见报道。本文报道一例COACH 综合征联合Abernethy畸形的22岁男性患者，影像学提示门静脉纤细，胃镜提示食管静脉曲张，经颈静脉肝穿刺病理提示先天性肝纤维化伴Caroli病，脑部磁共振提示中脑水平“磨牙征”，基因检测报告提示TMEM67基因复合杂合变异。通过文献回顾，加强了医师对这些罕见疾病的认识。.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple*
Ataxia
Brain / abnormalities
Cholestasis
Coloboma* / complications
Humans
Liver Diseases* / complications
Membrane Proteins / genetics
Mutation
Vascular Malformations* / complications

Substances

Membrane Proteins
TMEM67 protein, human

Supplementary concepts

COACH syndrome