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

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

Research output: Contribution to journal › Article › peer-review

13 Scopus citations

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.

Original language	English
Pages (from-to)	57-61
Number of pages	5
Journal	Neuropediatrics
Volume	51
Issue number	1
DOIs	https://doi.org/10.1055/s-0039-1694985
State	Published - 2020

Keywords

TSC
aneurysm
aortic aneurysm
everolimus
lymphedema
malformations

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10.1055/s-0039-1694985

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title = "Congenital Lymphatic Malformation and Aortic Aneurysm in a Patient with TSC2 Mutation",

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, aneurysm, aortic aneurysm, everolimus, lymphedema, malformations",

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T1 - Congenital Lymphatic Malformation and Aortic Aneurysm in a Patient with TSC2 Mutation

AU - Wiemer-Kruel, Adelheid

AU - Mayer, Hans

AU - Ewert, Peter

AU - Martinoff, Stefan

AU - Eckstein, Hans Henning

AU - Kriebel, Thomas

AU - Bissler, John

AU - Franz, David

AU - Bast, Thomas

PY - 2020

Y1 - 2020

N2 - 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.

AB - 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.

KW - TSC

KW - aneurysm

KW - aortic aneurysm

KW - everolimus

KW - lymphedema

KW - malformations

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

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