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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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2013/458543 |
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| author | Masato Kimura Shuhei Kakizaki Kengo Kawano Shinichi Sato Shigeo Kure |
| author_facet | Masato Kimura Shuhei Kakizaki Kengo Kawano Shinichi Sato Shigeo Kure |
| author_sort | Masato Kimura |
| collection | DOAJ |
| 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 | Article |
| id | doaj-art-ea942b458a4c43bc9257e74ab496671e |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-ea942b458a4c43bc9257e74ab496671e2025-02-03T01:01:17ZengWileyCase Reports in Pediatrics2090-68032090-68112013-01-01201310.1155/2013/458543458543Neurofibromatosis Type 1 Complicated by Atypical Coarctation of the Thoracic AortaMasato Kimura0Shuhei Kakizaki1Kengo Kawano2Shinichi Sato3Shigeo Kure4Department of Pediatrics, Tohoku University Graduate School of Medicine, 1-1 Seiryo-Cho, Aoba-ku, Sendai, Miyagi 980-8574, JapanDepartment of Pediatrics, Tohoku University Graduate School of Medicine, 1-1 Seiryo-Cho, Aoba-ku, Sendai, Miyagi 980-8574, JapanDepartment of Pediatrics, Tohoku University Graduate School of Medicine, 1-1 Seiryo-Cho, Aoba-ku, Sendai, Miyagi 980-8574, JapanDepartment of Pediatrics, Tohoku University Graduate School of Medicine, 1-1 Seiryo-Cho, Aoba-ku, Sendai, Miyagi 980-8574, JapanDepartment of Pediatrics, Tohoku University Graduate School of Medicine, 1-1 Seiryo-Cho, Aoba-ku, Sendai, Miyagi 980-8574, JapanNeurofibromatosis 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.http://dx.doi.org/10.1155/2013/458543 |
| spellingShingle | Masato Kimura Shuhei Kakizaki Kengo Kawano Shinichi Sato Shigeo Kure Neurofibromatosis Type 1 Complicated by Atypical Coarctation of the Thoracic Aorta Case Reports in Pediatrics |
| 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 |
| url | http://dx.doi.org/10.1155/2013/458543 |
| work_keys_str_mv | AT masatokimura neurofibromatosistype1complicatedbyatypicalcoarctationofthethoracicaorta AT shuheikakizaki neurofibromatosistype1complicatedbyatypicalcoarctationofthethoracicaorta AT kengokawano neurofibromatosistype1complicatedbyatypicalcoarctationofthethoracicaorta AT shinichisato neurofibromatosistype1complicatedbyatypicalcoarctationofthethoracicaorta AT shigeokure neurofibromatosistype1complicatedbyatypicalcoarctationofthethoracicaorta |