Neuropediatrics 2020; 51(01): 057-061
DOI: 10.1055/s-0039-1694985
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

Congenital Lymphatic Malformation and Aortic Aneurysm in a Patient with TSC2 Mutation

Adelheid Wiemer-Kruel
1   Clinic for Children and Adolescents, Epilepsy Center Kork, Tuberous Sclerosis Center, Kehl-Kork, Germany
,
Hans Mayer
1   Clinic for Children and Adolescents, Epilepsy Center Kork, Tuberous Sclerosis Center, Kehl-Kork, Germany
,
Peter Ewert
2   Department of Paediatric Cardiology and Congenital Heart Defects, German Heart Center of the state of Bavaria, Munich, Germany
,
Stefan Martinoff
3   Department of Radiology and Nuclear Medicine, German Heart Center of the state of Bavaria, Munich, Germany
,
Hans-Henning Eckstein
4   Clinic and Polyclinic for Vascular and Endovascular Surgery, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany
,
Thomas Kriebel
5   Department of pediatrics and pediatric cardiology, Heart Center Westpfalz, Westpfalz-Klinikum, Kaiserslautern, Germany
,
John Bissler
6   Department of Pediatric Nephrology, Tuberous Sclerosis Center of Excellence, Le Bonheur Children's Hospital, University of Tennessee, Knoxville, Tennessee, United States
7   St. Jude Children's Research Hospital, Memphis, Tennessee, United States
,
David Franz
8   Department of Pediatrics and Neurology, Tuberous Sclerosis Clinic, University of Cincinnati College of Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States
,
Thomas Bast
1   Clinic for Children and Adolescents, Epilepsy Center Kork, Tuberous Sclerosis Center, Kehl-Kork, Germany
› Author Affiliations
Further Information

Publication History

25 May 2019

04 July 2019

Publication Date:
10 September 2019 (online)

Abstract

We present a 7-year-old boy with tuberous sclerosis and congenital segmental lymphedema (CSL) of the left leg, as well as two aortic aneurysms. He was treated with everolimus (EVE) since the age of 14 months. His CSL regressed under treatment with EVE. His first aneurysms required operative intervention at age of 17 months. Four months afterward a new aortic aneurysm had been detected above the Dracon graft, but this one remained stable since that time. The patient didn't experience severe side effects. EVE has been well tolerated without disturbance of somatic growth or serious adverse effect.

Statement

The child has been treated at the TSC Center Kork. He was sent to Munich Heart Center for diagnostic procedures and surgery. The Westpfalz Heart Center had been involved in the primary cardiology diagnosis and follow-up treatment.


 
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