A case of early neonatal diagnosis of familial tuberos sclerosis


Background. Tuberous Sclerosis Complex (TSC) is a multisystemic neurocutaneous genetic condition with autosomal dominant inheritance. It is characterized by hamartomas that affect multiple organs, in particular skin, central nervous system, heart, lungs and kidney.
Case presentation. Here we report a case of early post-natal diagnosis of familial TSC.
Conclusions. TSC is a quite rare genetic disease and early diagnosis is very uncommon, given few cases published in literature. In our patients, early diagnosis has been performed by using early postnatal ultrasound screening, without a prenatal diagnosis.

Table of Content: Vol. 36 (No. 2) 2024 June

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