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Neuropediatrics 2018; 49(03): 193-199
DOI: 10.1055/s-0038-1637738
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Diagnosis and Treatment of Tuberous Sclerosis Manifestations in Children: A Multicenter Study

Marina Flotats-Bastardas
1   Department of Pediatric Neurology, Saarland University Medical Center, Homburg, Germany
2   Department of Pediatric Neurology, Vall d'Hebron University Hospital, Barcelona, Spain
,
Daniel Ebrahimi-Fakhari
1   Department of Pediatric Neurology, Saarland University Medical Center, Homburg, Germany
,
Ludwig Gortner
3   Department of Pediatrics and Neonatology, Saarland University Medical Center, Homburg, Germany
4   Department of Pediatrics and Neonatology, Medical University Vienna, Vienna, Austria
,
Martin Poryo
5   Department of Pediatric Cardiology, Saarland University Medical Center, Homburg, Germany
,
Michael Zemlin
3   Department of Pediatrics and Neonatology, Saarland University Medical Center, Homburg, Germany
,
Alfons Macaya-Ruiz
2   Department of Pediatric Neurology, Vall d'Hebron University Hospital, Barcelona, Spain
6   Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain
,
Sascha Meyer
1   Department of Pediatric Neurology, Saarland University Medical Center, Homburg, Germany
› Author Affiliations
Further Information

Publication History

24 October 2017

06 February 2018

Publication Date:
20 March 2018 (online)

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Abstract

Tuberous sclerosis complex (TSC) is a genetic disease with a significant morbidity and mortality. We conducted a retrospective analysis of two cohorts (Vall d'Hebron University Hospital [HVH], Barcelona, Spain, 1982–2015, and at Saarland University Medical Center [UKS], Homburg, Germany, 1998–2015) to assess prevalence and treatment of TSC associated manifestations and to evaluate if the follow-up was in line with published recommendations. This was considered if more than 15% of patients did not receive adequate examination with regard to potential organ involvement. A definite diagnosis was made in 52 patients (96%), and a possible diagnosis was made in 2 patients (4%). Thirty-four (63%) patients were from HVH and 20 (37%) from UKS. Median age at first presentation was 6 months (interquartile range: 0–38 months), and median time of follow-up was 6 years (interquartile range: 2–13 years). Clinical symptoms that led to a diagnosis of TSC were cardiac rhabdomyoma (22/54), epilepsy (20/54), and cutaneous manifestations (4/54). Assessment of neuropsychiatric, renal, and ocular manifestations was inadequate in both hospitals, whereas cutaneous manifestation was inadequate at UKS only. Our data demonstrate insufficient examinations in a substantial number of TSC patients with regard to neuropsychiatric, renal, ocular, and cutaneous manifestations. The recently published guidelines may prove valuable in establishing a more comprehensive approach.

Keywords

mTOR - everolimus - SEGA - angiomyolipoma - rhabdomyoma - epilepsy

Ethical Approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.


Informed Consent

Informed consent was obtained from all individual participants included in the study.


Supplementary Material