AI Article Synopsis
- Tuberous sclerosis complex (TSC) is a genetic disorder leading to noncancerous tumors in various organs and can cause cognitive, behavioral, and psychiatric issues.
- Fetal echocardiography revealed rhabdomyomas in two fetuses, prompting investigation into their families' medical histories, unveiling other TSC symptoms such as skin lesions and psychiatric conditions.
- The study highlights the importance of considering TSC in family assessments when cardiac rhabdomyomas are detected during fetal ultrasounds.
Article Abstract
Tuberous sclerosis complex (TSC) is a multisystem genetic disorder characterized by the growth of numerous noncancerous tumors in many parts of the body. It is highly variable in clinical presentations, including a wide range of cognitive, behavioral, and psychiatric manifestations. Of all the possible manifestations, cognitive and behavioral problems are the greatest concern to parents and physicians. In this study, two fetuses were identified to have rhabdomyomas by prenatal ultrasound. Carefully inquired familial medical history revealed other symptoms of TSC such as skin lesions or psychiatric problems in family members in the two families. Both fetuses and family members with positive clinical symptoms were confirmed to carry a familial variant. Our study indicates that fetal echocardiography is not just the evaluation of the fetal heart. When fetal cardiac rhabdomyomas are diagnosed, a full family medical history and clinical assessment for TSC in family members should be undertaken.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10668893 | PMC |
| http://dx.doi.org/10.4103/jmu.jmu_35_22 | DOI Listing |
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