伴有乳糜性腹水的早发性结节性硬化症：一例报告

Early onset of tuberous sclerosis with chylous ascites: a case report.

作者信息

Dalili Hosein, Amini Elahe, Akbari Asbagh Parvin, Esmaeilnia Shrivany Tahereh, Niknafs Nikoo, Nayyeri Fatemeh, Shariat Mamak, Talebian Saharnaz, Akbari Asbagh Naser, Ghorban Sabagh Vafa

机构信息

Family Health Institute, Breastfeeding Research Center, Tehran University of Medical Sciences, Tehran, Iran.

Family Health Institute, Maternal- Fetal& Neonatal Research Center, Tehran University of Medical Sciences, Tehran, Iran.

出版信息

Iran J Public Health. 2015 Mar;44(3):407-11.

PMID:25905086

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4402421/

Abstract

Tuberous Sclerosis Complex (TSC) is an autosomal-dominant hereditary disorder. This syndrome is characterized by tumor-like malformations in several organs, as well as the heart. This report summarizes a case of TSC in a premature infant, born at 34 weeks' gestation with ascites. After birth, multiple cardiac mass, subependymal cysts and hypopigmented macules were detected. To our knowledge, this is the first case report of early onset of TSC with chylous ascites in Iran.

摘要

结节性硬化症（TSC）是一种常染色体显性遗传性疾病。该综合征的特征是多个器官以及心脏出现肿瘤样畸形。本报告总结了一例早产34周并伴有腹水的结节性硬化症患儿病例。出生后，检测到多处心脏肿块、室管膜下囊肿和色素减退斑。据我们所知，这是伊朗首例伴有乳糜性腹水的早发性结节性硬化症病例报告。