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

Adelheid Wiemer-Kruel; Hans Mayer; Peter Ewert; Stefan Martinoff; Hans-Henning Eckstein; Thomas Kriebel; John Bissler; David Franz; Thomas Bast

doi:10.1055/s-0039-1694985

Neuropediatrics, Table of Contents

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

¹Clinic for Children and Adolescents, Epilepsy Center Kork, Tuberous Sclerosis Center, Kehl-Kork, Germany

,

Hans Mayer

¹Clinic for Children and Adolescents, Epilepsy Center Kork, Tuberous Sclerosis Center, Kehl-Kork, Germany

,

Peter Ewert

²Department of Paediatric Cardiology and Congenital Heart Defects, German Heart Center of the state of Bavaria, Munich, Germany

,

Stefan Martinoff

³Department of Radiology and Nuclear Medicine, German Heart Center of the state of Bavaria, Munich, Germany

,

Hans-Henning Eckstein

⁴Clinic and Polyclinic for Vascular and Endovascular Surgery, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany

,

Thomas Kriebel

⁵Department of pediatrics and pediatric cardiology, Heart Center Westpfalz, Westpfalz-Klinikum, Kaiserslautern, Germany

,

John Bissler

⁶Department of Pediatric Nephrology, Tuberous Sclerosis Center of Excellence, Le Bonheur Children's Hospital, University of Tennessee, Knoxville, Tennessee, United States

⁷St. Jude Children's Research Hospital, Memphis, Tennessee, United States

,

David Franz

⁸Department 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

¹Clinic for Children and Adolescents, Epilepsy Center Kork, Tuberous Sclerosis Center, Kehl-Kork, Germany

› Author Affiliations

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.

Keywords

TSC - malformations - lymphedema - aneurysm - aortic aneurysm - everolimus

Full Text

References

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