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Neurofibromatosis Type 1 Complicated by Atypical Coarctation of the Thoracic Aorta

Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant genetic disorder with a prevalence of 1 in 3,000 (0.03%) at birth. Clinical features are café-au-lait macules, intertriginous freckling, dermal neurofibroma, iris hamartoma (Lisch nodules), and learning disability. NF1 vasculop...

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Autores principales: Kimura, Masato, Kakizaki, Shuhei, Kawano, Kengo, Sato, Shinichi, Kure, Shigeo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3603612/
https://www.ncbi.nlm.nih.gov/pubmed/23533898
http://dx.doi.org/10.1155/2013/458543
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author Kimura, Masato
Kakizaki, Shuhei
Kawano, Kengo
Sato, Shinichi
Kure, Shigeo
author_facet Kimura, Masato
Kakizaki, Shuhei
Kawano, Kengo
Sato, Shinichi
Kure, Shigeo
author_sort Kimura, Masato
collection PubMed
description Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant genetic disorder with a prevalence of 1 in 3,000 (0.03%) at birth. Clinical features are café-au-lait macules, intertriginous freckling, dermal neurofibroma, iris hamartoma (Lisch nodules), and learning disability. NF1 vasculopathy is a serious but underrecognized complication involving the cerebrovascular and cardiovascular systems. The incidence of hypertension in patients with NF1 is around 1% and is associated mainly with renal artery stenosis in children. Only a few cases of thoracic aortic coarctation in association with hypertension and neurofibromatosis have been reported. Here we describe the case of a 4-year-old girl who presented with NF1 and hypertension due to atypical coarctation of the thoracic aorta. The diagnosis of coarctation of the thoracic aorta at the Th5-to-Th6 level was made following catheterization with a pressure gradient of 40 mmHg. The patient underwent surgery comprising resection of the coarctation of the thoracic aorta and graft interposition. On the basis of our findings, annual assessment of blood pressure is advised for patients with NF1.
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spelling pubmed-36036122013-03-26 Neurofibromatosis Type 1 Complicated by Atypical Coarctation of the Thoracic Aorta Kimura, Masato Kakizaki, Shuhei Kawano, Kengo Sato, Shinichi Kure, Shigeo Case Rep Pediatr Case Report Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant genetic disorder with a prevalence of 1 in 3,000 (0.03%) at birth. Clinical features are café-au-lait macules, intertriginous freckling, dermal neurofibroma, iris hamartoma (Lisch nodules), and learning disability. NF1 vasculopathy is a serious but underrecognized complication involving the cerebrovascular and cardiovascular systems. The incidence of hypertension in patients with NF1 is around 1% and is associated mainly with renal artery stenosis in children. Only a few cases of thoracic aortic coarctation in association with hypertension and neurofibromatosis have been reported. Here we describe the case of a 4-year-old girl who presented with NF1 and hypertension due to atypical coarctation of the thoracic aorta. The diagnosis of coarctation of the thoracic aorta at the Th5-to-Th6 level was made following catheterization with a pressure gradient of 40 mmHg. The patient underwent surgery comprising resection of the coarctation of the thoracic aorta and graft interposition. On the basis of our findings, annual assessment of blood pressure is advised for patients with NF1. Hindawi Publishing Corporation 2013 2013-03-04 /pmc/articles/PMC3603612/ /pubmed/23533898 http://dx.doi.org/10.1155/2013/458543 Text en Copyright © 2013 Masato Kimura et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Kimura, Masato
Kakizaki, Shuhei
Kawano, Kengo
Sato, Shinichi
Kure, Shigeo
Neurofibromatosis Type 1 Complicated by Atypical Coarctation of the Thoracic Aorta
title Neurofibromatosis Type 1 Complicated by Atypical Coarctation of the Thoracic Aorta
title_full Neurofibromatosis Type 1 Complicated by Atypical Coarctation of the Thoracic Aorta
title_fullStr Neurofibromatosis Type 1 Complicated by Atypical Coarctation of the Thoracic Aorta
title_full_unstemmed Neurofibromatosis Type 1 Complicated by Atypical Coarctation of the Thoracic Aorta
title_short Neurofibromatosis Type 1 Complicated by Atypical Coarctation of the Thoracic Aorta
title_sort neurofibromatosis type 1 complicated by atypical coarctation of the thoracic aorta
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3603612/
https://www.ncbi.nlm.nih.gov/pubmed/23533898
http://dx.doi.org/10.1155/2013/458543
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