Three-Year Follow-Up after Intrauterine mTOR Inhibitor Administration for Fetus with TSC-Associated Rhabdomyoma.

Tuberous sclerosis complex (TSC) is a multisystem disorder characterized by seizures, neuropsychiatric disorders, and tumors of the heart, brain, skin, lungs, and kidneys. We present a three-year follow-up of a patient with TSC-associated rhabdomyoma detected in utero. Genetic examination of the fetus and the parents revealed a de novo variant in the TSC2 gene (c.3037delG, p.Asp1013IlefsTer3). Oral everolimus was initiated in the pregnant mother to regress the fetal tumor, which was successful. To the best of our knowledge, there is very little information regarding the use of everolimus therapy during pregnancy. West-syndrome was diagnosed when the proband was four months old. The symptoms were well-manageable, however temporarily. Therapy-resistant focal seizures were frequent. The patient had good vitals and was under regular cardiological control, showed a balanced circulation, and did not require any medication. Subependymal giant cell astrocytoma (SEGA) identified by regular neuroimaging examinations remained unchanged, which may be a consequence of early intrauterine treatment. Early detection of the pathogenic TSC2 variant, followed by in utero administration of everolimus and early vigabatrin therapy, allowed the detection of a milder developmental delay of the proband. Our study emphasizes how early genetic testing and management of epilepsy are pivotal for proper neurodevelopmental impacts and therapeutic strategies.

Case Report: Recurrent pericardial tamponade in a child with COVID-19.

Background: Pericarditis is rare in Coronavirus disease 2019 (Covid-19) infection and only a few cases were reported in children. Case presentation: We present the case of a 15-year-old boy with symptoms of high fever and worsening chest pain during COVID-19 infection. Chest computer tomography (CT) and echocardiography confirmed pericardial tamponade requiring urgent drainage. Despite antiviral drug treatment, after 18 days severe attack developed requiring repeated pericardiocentesis. High dose ibuprofen, colchicin and the interleukin-1 antagonist, anakinra were given. Clinical symptoms and laboratory parameters improved after seven days of treatment. Autoinflammatory diseases were also suspected in the background the severe pericarditis, but genetic analysis ruled out any mutations. Conclusion: Pericarditis associated with COVID-19 infection may present in the acute phase or later as MIS-C. Though pericardial tamponade related to ongoing Covid-19 infection is rare in children, even biological treatment with interleukin-1 antagonist may be needed to control the inflammation.