Abstract
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.
Highlights
Neurofibromatosis type 1 (NF1; OMIM #162200) is a dominantly inherited multisystem genetic disorder with a prevalence of approximately 1 in 3,000 (0.03%) at birth [1]
NF1 (OMIM #162200) is an autosomal dominant multisystem genetic disorder caused by a mutation in the NF1 gene on chromosome 17 (17q11.2)
Symptomatic optic pathway glioma in individuals with NF1 usually presents before 8 years of age with loss of visual acuity or proptosis, but these tumors may not become symptomatic until later in childhood or even adulthood
Summary
Neurofibromatosis type 1 (NF1; OMIM #162200) is a dominantly inherited multisystem genetic disorder with a prevalence of approximately 1 in 3,000 (0.03%) at birth [1]. NF1 vasculopathy is a potentially serious but less well-known manifestation of this multisystem genetic disorder, which can produce renal artery stenosis, coarctation of the aorta, and other vascular lesions [2, 3]. The incidence of hypertension in patients with NF1 is around 1% and is associated most commonly with renal artery stenosis in children and pheochromocytoma in adults. Only a few cases of thoracic aortic coarctation in association with hypertension and neurofibromatosis have been promoted [4]. We report the case of a 4-year-old girl with hypertension and atypical thoracic coarctation who underwent graft interposition
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
