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, 51 (1), 57-61

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

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

Adelheid Wiemer-Kruel et al. Neuropediatrics.

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.

Conflict of interest statement

Adelheid Wiemer-Kruel declares to have received speaker's honoraria and travel supports, while her employer received research grants from Novartis and Nutricia, only honoraria and travel supports by Desitin Arzneimittel, Vitaflo, Dr. Schär Deutschland, and UCB Pharma. All grants are unrelated to this publication.Hans Mayer has no conflicts of interest to declare.Peter Ewert declares to have received research grants from Medtronic, Actelion, and Lifetec. He is proctor for Medtronic and Edwards Lifescience heart valves. All grants or honoraria are unrelated to this publication.Stefan Martinoff has no conflicts of interest to declare.Hans-Henning Eckstein declares to have received research grants from MEDISTIM (Norway), MEDTRONIC, and COOK. All grants are unrelated to this publication.Thomas Kriebel received a travel grant from Medtronic as well as honoraria from AOPharm for consulting. All grants are unrelated to this publication.John Bissler has received support from Novartis Pharmaceuticals in the form of honoraria and travel support, while his employer received research funding.David Franz has received honoraria and travel support, and his employer has received research funding from Novartis Pharmaceuticals.Thomas Bast received honoraria by Bial, Biocodex, Eisai, Desitin Arzneimittel, GW Pharmaceuticals, Nutricia, Shire, UCB Pharma, Viropharma, and Zogenix that have no relation to this publication.Dr. Wiemer-Kruel reports nonfinancial support and other from Novartis pharmaceuticals, outside the conduct of the study; Dr. Franz reports nonfinancial support and other from Novartis pharmaceuticals, outside the submitted work. Dr. Bast reports nonfinancial support from Novartis pharmaceuticals, outside the submitted work.

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