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http://dx.doi.org/10.3339/jkspn.2013.17.2.143

A Case of Moyamoya Disease Associated with Neurofibromatosis Type 1 in Patients with Renal Artery Stenosis and Hypertension  

Seo, Young Ho (Department of Pediatrics, College of Medicine, Korea University)
Yim, Hyung Eun (Department of Pediatrics, College of Medicine, Korea University)
Yoo, Kee Hwan (Department of Pediatrics, College of Medicine, Korea University)
Publication Information
Childhood Kidney Diseases / v.17, no.2, 2013 , pp. 143-148 More about this Journal
Abstract
Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous disorder, which can affect different organs or systems of the body, including the cardiovascular system. One of the more serious aspects of the disease relates to arterial involvement. In particular, renal artery stenosis is one of the most common vascular abnormalities in patients with NF-1, and the manifestations vary, ranging from no symptoms to end-stage renal failure. Treatment usually consists of antihypertensive drugs, percutaneous transluminal angioplasty, or surgery. Other causes of hypertension should be ruled out and the patient followed up for close monitoring and proper management. We report a case of bilateral renal artery stenosis and hypertension in a patient with moyamoya disease associated with neurofibromatosis type 1. This report discusses the literature available on the current subject, its clinical features, diagnosis, and treatment.
Keywords
Renal artery stenosis; Hypertension; Nneurofibromatosis 1; Moyamoya disease;
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1 Courtel JV, Soto B, Niaudet P, Gagnadoux MF, Carteret M, Quignodon JF, et al. Percutaneous transluminal angioplasty of renal artery stenosis in children. Pediatric Radiology 1998; 28:59.   DOI
2 Von Recklinghausen F. Ueber die multiplen Fibrome der Haut und ihre Beziehung zu den multiplen Neuromen: Festschrift zur Feier des fünfundzwanzigjährigen Bestehens des pathologischen Instituts zu Berlin. Herrn Rudolf Virchow. A. Hirschwald, 1882.
3 Gutmann DH, Aylsworth A, Carey JC, Korf B, Marks J, Pyeritz RE, et al. The Diagnostic Evaluation and Multidisciplinary Management of Neurofibromatosis 1 and Neurofibromatosis 2. JAMA 1997;278:51.   DOI
4 Booth C, Preston R, Clark G, Reidy J, Booth C, Preston R, et al. Management of renal vascular disease in neurofibromatosis type 1 and the role of percutaneous transluminal angioplasty. Nephrology Dialysis Transplantation 2002;17:1235.   DOI
5 Riccardi VM, Smirniotopoulos J. Neurofibromatosis, phenotype, natural history, and pathogenesis. Journal of Neuropathology & Experimental Neurology 1992;51:658.   DOI
6 Reubi F. Neurofibromatose et lesions vasculaires. Schweiz Med Wochenschr 1945;75:463-5.
7 Norton KK, Xu J, Gutmann DH. Expression of the neurofibromatosis I gene product, neurofibromin, in blood vessel endothelial cells and smooth muscle. Neurobiology of disease 1995; 2:13-21.   DOI
8 Salyer WR, Salyer DC. The vascular lesions of neurofibromatosis. Angiology 1974;25:510-9.   DOI
9 Levisohn PM, Mikhael MA, Rothman SM. Cerebrovascular changes in neurofibromatosis. Developmental Medicine & Child Neurology 1978;20:789-93.
10 Rosser TL, Vezina G, Packer RJ. Cerebrovascular abnormalities in a population of children with neurofibromatosis type 1. Neurology 2005;64:553-5.   DOI
11 Darrigo Júnior LG, Valera ET, Machado AdA, Santos ACd, Scrideli CA, Tone LG. Moyamoya syndrome associated with neurofibromatosis type I in a pediatric patient. Sao Paulo Medical Journal 2011;129:110-2.   DOI
12 Lee MA, Eum JP, Lee HY, Cha BH. A Case of Moyamoya Disease with Neurofibromatosis Type I. Korean Journal of Pediatrics 2005;48:93-6.
13 Lehrnbecher T, Gassel A, Rauh V, Kirchner T, Huppertz H-I. Neurofibromatosis presenting as a severe systemic vasculopathy. European journal of pediatrics 1994;153:107-9.   DOI
14 Togao O, Mihara F, Yoshiura T, Tanaka A, Kuwabara Y, Morioka T, et al. Prevalence of stenoocclusive lesions in the renal and abdominal arteries in moyamoya disease. American Journal of Roentgenology 2004;183:119-22.   DOI
15 Yamada I, Himeno Y, Matsushima Y, Shibuya H. Renal artery lesions in patients with moyamoya disease angiographic findings. Stroke 2000;31:733-7.   DOI
16 Choi Y, Kang BC, Kim KJ, Cheong HI, Hwang YS, Kim IO. Renovascular hypertension in children with moyamoya disease. The Journal of pediatrics 1997;131:258-63.   DOI
17 Kim JA, Kim S, Kim HS, Shin JI, Jeong IC, Lee JS, et al. A Case of Renovascular Hypertension Due to Renal Artey Stenosis Related to Moyamoya Disease. J Korean Soc Pediatr Nephrol 2007;11:294-8.   DOI
18 Deal J, Snell M, Barratt T, Dillon M. Renovascular disease in childhood. The Journal of pediatrics 1992;121:378-84.   DOI
19 Casalini E, Sfondrini M, Fossali E. Two-year clinical follow-up of children and adolescents after percutaneous transluminal angioplasty for renovascular hypertension. Investigative radiology 1995;30:40-3.   DOI
20 Elias DL, Ricketts RR, 3rd SR. Renovascular hypertension complicating neurofibromatosis. The American Surgeon 1985;51:97.
21 Fossali E, Signorini E, Intermite R, Casalini E, Lovaria A, Maninetti M, et al. Renovascular disease and hypertension in children with neurofibromatosis. Pediatric Nephrology 2000;14:806-10.   DOI
22 Greene Jr J, Fitzwater J, Burgess J. Arterial lesions associated with neurofibromatosis. American journal of clinical pathology 1974;62:481-7.
23 Han M, Criado E, Han M, Criado E. Renal artery stenosis and aneurysms associated with neurofibromatosis. Journal of Vascular Surgery 2005;41:539.   DOI
24 Al-Rawahi M, Al-Riyami D, Farooqui MA, Al-Duhli H. Neurofibromatosis with Bilateral Renal Artery Stenosis and End Stage Renal Disease: Case Report. Sultan Qaboos University Medical Journal 2009;9:167.
25 Hiner L, Falkner B. Renovascular hypertension in children. Pediatric clinics of North America 1993;40:123.
26 Vo NJ, Hammelman BD, Racadio JM, Strife CF, Johnson ND, Vo NJ, et al. Anatomic distribution of renal artery stenosis in children: implications for imaging. Pediatric Radiology 2006; 36:1032.   DOI
27 Dillon MJ. The diagnosis of renovascular disease. Pediatric Nephrology 1997;11:366-72.   DOI
28 Hamilton SJ, Friedman JM, Hamilton S, Friedman J. Insights into the pathogenesis of neurofibromatosis 1 vasculopathy : Pathogenesis of NF1 vasculopathy. Clinical Genetics 2000; 58:341.