A CASE REPORT OF TUBEROUS SCLEROSIS COMPLEX AT NGHE AN OBSTETRIS AND PEDIATRICS HOSPITAL
Main Article Content
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.
Article Details
Keywords
Gene mutations, TSC1, TSC2, tuberous sclerosis, Bourneville, pediatric.
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