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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2013
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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. |
format | Online Article Text |
id | pubmed-3603612 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Hindawi Publishing Corporation |
record_format | MEDLINE/PubMed |
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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