Challenges of siblings with tuberous sclerosis showing various manifestations and severe complications.

Autor:	Purbasari U; Department of Radiology, Fatmawati General Hospital, Jl. RS. Fatmawati Raya, Num4, RT.4/RW.9, West Cilandak, District Cilandak, South Jakarta, Special Capital District of Jakarta. Postal Code: 12430.; Faculty of Public Health, University of Indonesia, Jl. Lingkar Kampus Raya Universitas Indonesia, Depok, West Java Postal Code: 16424., Prihartono NA; Department of Radiology, Fatmawati General Hospital, Jl. RS. Fatmawati Raya, Num4, RT.4/RW.9, West Cilandak, District Cilandak, South Jakarta, Special Capital District of Jakarta. Postal Code: 12430., Helda N; Faculty of Public Health, University of Indonesia, Jl. Lingkar Kampus Raya Universitas Indonesia, Depok, West Java Postal Code: 16424., Audita FR; Faculty of Public Health, University of Indonesia, Jl. Lingkar Kampus Raya Universitas Indonesia, Depok, West Java Postal Code: 16424., Dharmawan BS; Department of Pediatrics, Fatmawati General Hospital, Jl. RS. Fatmawati Raya, Num4, RT.4/RW.9, West Cilandak, District Cilandak, South Jakarta, Special Capital District of Jakarta. Postal Code: 12430.
Jazyk:	angličtina
Zdroj:	Radiology case reports [Radiol Case Rep] 2024 Apr 05; Vol. 19 (6), pp. 2566-2573. Date of Electronic Publication: 2024 Apr 05 (Print Publication: 2024).
DOI:	10.1016/j.radcr.2024.03.002
Abstrakt:	Tuberous Sclerosis Complex (TSC) is a rare genetic disorder that primarily affects the central nervous system and various body organs. This case series describes the case history of 2 siblings from the same parents who were diagnosed with TSC. Case 1 is a 13-year-old girl with bilateral renal AML (angiomyolipoma), multiple fat nodules in the liver, and subependymal nodules with tubers revealed in the brain magnetic resonance imaging (MRI). Case 2 is her brother, a 6-year-old boy, who presented with manifestations of subependymal giant cell astrocytoma (SEGA) and renal AML. TSC must be managed with early diagnosis and intervention due to the risk of hamartoma enlargement. These 2 cases found in siblings underline the varied clinical presentations of TSC and the complexities faced by families with TSC. Early diagnosis is important to avoid TSC-related complications because, as time goes by, the disease will impact the patient's quality of life and increase morbidity and mortality. This case series also highlights the advantages of dermatological screening for the early detection of TSC, family screening, the need for multiple imaging modalities and counseling of family members with TSC, as well as the need for ongoing follow-up of this rare disorder. (© 2024 The Authors. Published by Elsevier Inc. on behalf of University of Washington.)
Databáze:	MEDLINE
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