A case report of severe tuberous sclerosis complex detected in utero and linked to a novel duplication in the TSC2 gene.

ABSTRACT:

Background

Disease severity is tremendously variable in tuberous sclerosis complex (TSC). In contrast with the detailed guidelines available for TSC diagnosis and management, clinical practice lacks adequate tools to evaluate the prognosis, especially in the case of in utero diagnosis. In addition, the correlation between genotypes and phenotypes remains a challenge, in part due to the large number of mutations linked to TSC. In this report, we describe a case of severe TSC diagnosed in utero and associated with a specific mutation in the gene tuberous sclerosis complex 2 (TSC2).

Case presentation

A mother was referred for a thorough investigation following the observation by ultrasound of cardiac abnormalities in her fetus. The mother was healthy and reported frequent, inte

SUBMITTER: Mongrain V 

PROVIDER: S-EPMC7460776 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature