title: [Neurofibromatosis type 1 and hypertension in pediatrics: case report].
abstract: 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. Magnetic 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.
authors: Dipartimento di Scienze Mediche, Università del Piemonte Orientale Amedeo Avogadro, Novara, Italia.
authors: I
authors: I
authors: Demarchi
authors: G
authors: G
authors: Genoni
authors: F
authors: F
authors: Prodam
authors: A
authors: A
authors: Petri
authors: A
authors: A
authors: Busti
authors: L
authors: L
authors: Cortese
authors: M
authors: M
authors: Negro
authors: S
authors: S
authors: Bellone
authors: G
authors: G
authors: Acucella
authors: G
authors: G
authors: Bona
mesh_terms: D000959:Antihypertensive Agents / Q000627:therapeutic use; D001365:Axilla; D018660:Blood Pressure Monitoring, Ambulatory; D001932:Brain Neoplasms / Q000175:diagnosis; D019080:Cafe-au-Lait Spots / Q000209:etiology; D002648:Child; D003937:Diagnosis, Differential; D005128:Eye Diseases / Q000175:diagnosis; D005260:Female; D005500:Follow-Up Studies; D006261:Headache / Q000209:etiology; D006801:Humans; D006973:Hypertension / Q000175:diagnosis* / Q000188:drug therapy / Q000209:etiology* / Q000235:genetics; D009455:Neurofibroma / Q000175:diagnosis; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D020339:Optic Nerve Glioma / Q000175:diagnosis; D012878:Skin Neoplasms / Q000175:diagnosis; D016896:Treatment Outcome
chemical_list: D000959:Antihypertensive Agents