Case report L.F., 11 year old boy with neurofibromatosis type 1 (NF1), was admitted to our Clinic for headache. During hospitalisation were performed: 24 hour blood pressure monitor documenting isolated systolic hypertension grade I, Doppler ultrasound of renal vessels which diagnosis of the left renal artery severe stenosis (confirmed at angiography) and MRI brain highlighting extra-axial lesion (1.2 cm) in posterior cranial fossa (PCF). Nifedipine (10 mg/day) therapy was started, and subsequently intravascular stent was placed in renal artery. Neuroradiological control (MRI) showed increased in brain lesion (>2 cm). Surgical removal and histological evaluation allowed diagnosis of hemangioblastoma, with diagnostic suspicion for Von Hipple Lindau syndrome (VHL), confirmed by genetic analysis. Conclusions NF1 is an autosomal dominant, multisystemic and progressive disease, with multiple complications. These include high blood pressure, described in 6% of patients, mostly caused by renal artery stenosis, pheochromocytoma or coarctation of aorta. The hemangioblastoma, however, is the most characteristic lesion of VHL disease. In literature it has been reported association between VHL-NF1: both diseases are part of neurocutaneous syndromes and it is possible to hypothesise a common dysplastic origin.
Neurofibromatosis type 1 and von hippel-lindau disease: a possible association
PETTOELLO MANTOVANI, MASSIMO
2017-01-01
Abstract
Case report L.F., 11 year old boy with neurofibromatosis type 1 (NF1), was admitted to our Clinic for headache. During hospitalisation were performed: 24 hour blood pressure monitor documenting isolated systolic hypertension grade I, Doppler ultrasound of renal vessels which diagnosis of the left renal artery severe stenosis (confirmed at angiography) and MRI brain highlighting extra-axial lesion (1.2 cm) in posterior cranial fossa (PCF). Nifedipine (10 mg/day) therapy was started, and subsequently intravascular stent was placed in renal artery. Neuroradiological control (MRI) showed increased in brain lesion (>2 cm). Surgical removal and histological evaluation allowed diagnosis of hemangioblastoma, with diagnostic suspicion for Von Hipple Lindau syndrome (VHL), confirmed by genetic analysis. Conclusions NF1 is an autosomal dominant, multisystemic and progressive disease, with multiple complications. These include high blood pressure, described in 6% of patients, mostly caused by renal artery stenosis, pheochromocytoma or coarctation of aorta. The hemangioblastoma, however, is the most characteristic lesion of VHL disease. In literature it has been reported association between VHL-NF1: both diseases are part of neurocutaneous syndromes and it is possible to hypothesise a common dysplastic origin.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
