Tuberous Sclerosis Complex in Children Followed from Neonatal Period for Prenatally Diagnosed Cardiac Rhabdomyoma – Two Case Reports

Česká verzia

Authors: B. Petrák ¹; A. Gabera ²; H. Filipová ³; V. Tomek ⁴; A. Puchmajerová ⁵; L. Mrázková ⁶; A. Jahodová ¹; M. Malíková ⁵; Michal Černý ⁷ ; R. Vrtěl ³
Authors place of work: Klinika dětské neurologie 2. LF UK a FN v Motole, Praha ¹; Dětská klinika, Krajská zdravotní, a. s. – Masarykova nemocnice v Ústí nad Labem ²; Ústav lékařské genetiky a fetální medicíny FN Olomouc ³; Dětské kardiocentrum 2. LF UK a FN v Motole, Praha ⁴; Ústav biologie a lékařské genetiky 2. LF UK a FN v Motole ⁵; Klinika zobrazovacích metod 2. LF UK a FN v Motole, Praha ⁶; Novorozenecké odd. s JIRP, Gynekologicko-porodnická klinika 2. LF UK a FN v Motole, Praha ⁷
Published in the journal: Cesk Slov Neurol N 2013; 76/109(6): 763-768
Category: Case Report

Summary

Tuberous Sclerosis Complex (TSC) is an autosomal dominant neurocutaneous disorder with incidence of 1 : 6,000 and frequently occurring sporadic mutations in either TSC1 gene (type 1) or in TSC2 gene (type 2). Clinical manifestation is very variable with frequent formation of hamartomas and benign tumours. TSC is a multi‑system disorder characterized by defined diagnostic criteria – 11 major symptoms and nine minor ones. Benign cardiac tumour – rhabdomyoma – is one of the major symptoms and may be detected during prenatal period. We present two cases of children monitored from prenatal period for multiple cardiac rhabdomyomas and suspicious TSC diagnosis. TSC was diagnosed in both children based on clinical picture and later confirmed by DNA analysis. Both presented cases confirm the importance of follow‑up by a paediatric neurologist of newborns with prenatally diagnosed cardiac rhabdomyoma so that early TSC diagnosis can be made and neurological complications, including epilepsy, monitored and treated in a timely manner.

Key words:
tuberous sclerosis complex type 1, 2 – cardiac rhabdomyoma – epilepsy – magnetic resonance imaging

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.

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