Mid-aortic syndrome with renovascular hypertension and multisystem involvement in a girl with familiar neurofibromatosis von Recklinghausen type 1

Neurofibromatosis von Recklinghausen type 1 (NF1) is an autosomal dominant neurocutaneous disorder affecting one in 3 000-4 000 individuals. Mid-aortic syndrome (MAS) is a rare condition characterized by segmental narrowing of abdominal aorta and stenosis of its major branches - mainly renal arterie...

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Bibliographic Details
Published in:	Neuro-endocrinology letters Vol. 28; no. 6; p. 734
Main Authors:	Petrak, Borivoj, Bendova, Sarka, Seeman, Tomas, Klein, Tibor, Lisy, Jiri, Zatrapa, Tomas, Marikova, Tana
Format:	Journal Article
Language:	English
Published:	Sweden 01-12-2007
Subjects:	Aorta, Abdominal - abnormalities Aorta, Abdominal - pathology Aortic Diseases - complications Aortic Diseases - genetics Aortic Diseases - pathology Child Child, Preschool Constriction, Pathologic Female Glioma - complications Glioma - genetics Glioma - pathology Humans Hypertension, Renovascular - complications Hypertension, Renovascular - genetics Hypertension, Renovascular - pathology Hypertrophy, Left Ventricular - complications Hypertrophy, Left Ventricular - genetics Mutation Neurofibromatosis 1 - complications Neurofibromatosis 1 - genetics Neurofibromatosis 1 - metabolism Neurofibromatosis 1 - pathology Neurofibromin 1 - genetics Neurofibromin 1 - metabolism Optic Chiasm - pathology Optic Nerve Neoplasms - complications Optic Nerve Neoplasms - genetics Optic Nerve Neoplasms - pathology Protein Biosynthesis Renal Artery - pathology RNA, Messenger - metabolism Syndrome
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Summary:	Neurofibromatosis von Recklinghausen type 1 (NF1) is an autosomal dominant neurocutaneous disorder affecting one in 3 000-4 000 individuals. Mid-aortic syndrome (MAS) is a rare condition characterized by segmental narrowing of abdominal aorta and stenosis of its major branches - mainly renal arteries, including manifestation of renovascular hypertension. MAS can be caused by different diseases, including NF1. A 9 years old girl with primary diagnosis of NF1 combined with renovascular hypertension due to MAS, suffered of bilateral optic and chiasm glioma, pubertas praecox, speech disorder, light mental retardation and scoliosis. We have found a mutation in exone 34 of the NF1 gene (17q11.2). Her father has been also diagnosed with NF1 and hypertension developed at early age. He has the same mutation in exone 34 of NF1 gene. The girl is currently treated with conservative antihypertensive medication with positive effect. Bilateral optic and chiasm glioma are asymptomatic at the time and they had been without progress over period of time. Any vascular surgery, neurosurgical and oncological therapy are not indicated at the present time. This article is a summary of clinical findings in patient with NF1 due to NF1 gene mutation in exone 34. It confirms the importance of complex multidisciplinar approach to examination and taking care of NF1 patients and their families.
ISSN:	0172-780X