Neonatal tricho-hepato-enteric syndrome caused by SKIV2L gene mutation: a case report
10.3760/cma.j.cn113903-20210320-00240
- VernacularTitle:SKIV2L基因变异致新生儿发-肝-肠综合征一例
- Author:
Jingfang WU
1
;
Shuang LI
;
Jianwei LI
;
Lei YANG
;
Meiyun XIN
Author Information
1. 济宁医学院附属医院儿科 272000
- Keywords:
Diarrhea, infantile;
Fetal growth retardation;
Hair diseases;
Facies;
DNA helicases;
Mutation
- From:
Chinese Journal of Perinatal Medicine
2021;24(11):855-857
- CountryChina
- Language:Chinese
-
Abstract:
We here report the diagnosis and treatment of tricho-hepato-enteric syndrome in a female neonate. The 11-day-old patient, born at a gestational age of 38 weeks and with a birth weight of 1 700 g, was admitted to the Affiliated Hospital of Jining Medical University in January 2019 due to "skin stained yellow for 6 d". She presented with yellow, thin, and sparse hair that was easy to fall off, intractable diarrhea, repeated fever, and slow weight gain, further complicated by congenital heart disease. After 25-days of treatment, the child's infection was under control, but still had diarrhea. The baby girl was discharge later on request of her parents, but readmitted at the age of 3 months due to pulmonary infection. Delayed development, malnutrition, prominent forehead, wide eye distance, low nasal bridge, hepatomegaly, and intractable diarrhea were also observed. Whole exome sequencing identified a homozygous mutation of c.2344delC(p.His782fs) in SKIV2L gene in the baby, and both her parents were heterozygous carriers of the mutation at this site. She was diagnosed with SKIV2L gene mutation-induced tricho-hepato-enteric syndrome. The patient suffered from sustained diarrhea and recurrent infection and died of infection at 4 months of age after her parents' decision to withdraw treatment.
