Articles Vol. 63 No. chuyên đề 3-HN Sản Nhi Nghệ An (2022) 30/11/2022

A CASE REPORT OF TUBEROUS SCLEROSIS COMPLEX AT NGHE AN OBSTETRIS AND PEDIATRICS HOSPITAL

Tang Xuan Hai1,2, Le Thi Minh Hang1,2, Tran Minh Long1,2
1 Nghe An Hospital of Obstetrics and Pediatrics
2 Bệnh viện Sản Nhi Nghệ An
Corresponding author: bstangxuanhai@gmail.com
DOI: 10.52163/yhc.v63i8.518
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Keywords
Gene mutations, TSC1, TSC2, tuberous sclerosis, Bourneville, pediatric.
Abstract

Tuberous sclerosis complex (TSC) is a
multisystem disorder that results from
heterozygous mutations in either TSC1 or
TSC2. The primary organ systems that are
affected include the brain, skin, lung, kidney,
and heart, all with variable frequency,
penetrance, and severity. The management of
these patients is often multidisciplinary
involving specialists from many different
disciplines. Genetic counseling is very
important to diagnose the cause, detect the
disease early for siblings and especially predict
the future pregnancies. Here, we present a case
report of a 20-day-old male patient with
clinical, radiological, and MRI features of
Tuberous sclerosis complex.

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