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A Journal on Pediatrics, Neonatology, Adolescent Medicine,
Child and Adolescent Psychiatry

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Minerva Pediatrica 2011 August;63(4):335-9

language: Italian

Neurofibromatosis type 1 and hypertension in pediatrics: case report

Demarchi I., Genoni G., Prodam F., Petri A., Busti A., Cortese L., Negro M., Bellone S., Acucella G., Bona G.

Dipartimento di Scienze Mediche, Clinica Pediatrica, Università del Piemonte Orientale “Amedeo Avogadro”, Novara, Italia


Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by cafe-au-lait spots, axillary and inguinal freckling, cutaneous neurofibromas with a variable clinical expression, iris Lisch nodules, and multiple tumors, in particular optic nerve and other central nervous system gliomas. About 6% of patients develop hypertension due to renovascular diseases, mid-aortic syndrome, or pheochromocytoma. We present a case of a 8 year old girl with primary diagnosis of NF1suffering of skin and encefalic neurofibromas, inguinal freckling, café-au-lait spots, optic nerve glioma, headache, facial flushing. The 24-h ambulatory blood pressure revealed hypertension without paroximal attacks. Urinary metanephrines, serum aldosteron, renin and kalemia were constantly normal. Magne-tic resonance imaging (MRI) and angioMRI excluded stenoses of the renal arteries or adrenal masses. Standard 2D echocardiography was normal. The antihypertensive medication controlled pressure values. We concluded for hypertension due to a low-grade vasculopathy. The periodic monitoring of blood pressure in NF1 patients, accompanied by appropriate diagnostic modalities and physical examination, is essential to precociously diagnose hypertension and avoid life-threatening organ damages and increased mortality.

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