1/6. Spontaneous cerebrospinal fluid (CSF) rhinorrhoea in spongiform dysplasia of the cranium: an unusual presentation of neurofibromatosis.A 20-year-old woman with neurofibromatosis presented with CSF rhinorrhoea. Spongiform dysplasia of the cranium was found. The dysplastic bone contained CSF. The exact site of the CSF fistula into the calvarium and into the paranasal sinuses could not be detected on investigation but nasal packing of the ethmoid and sphenoid sinuses controlled the rhinorrhoea. The unique features of this case are presented along with a brief review of the literature.- - - - - - - - - - ranking = 1keywords = dysplasia (Clic here for more details about this article) |
2/6. Neurofibromatosis cerebral vasculopathy in an infant: clinical, neuroradiographic, and neuropathologic studies.An infant with neurofibromatosis developed recurrent cerebrovascular accidents beginning at 3 months of life. Cerebral arteriography demonstrated large-vessel occlusive disease and bilateral severe moyamoya. At autopsy these lesions were apparent on gross examination, and advanced intimal and medial dysplasia was seen on microscopic examination of both the anterior and posterior circulations. Although rare, neurofibromatosis cerebrovasculopathy may occur in young infants and may account for some strokes in this age group.- - - - - - - - - - ranking = 0.2keywords = dysplasia (Clic here for more details about this article) |
3/6. skin ulcerations as manifestation of vasculopathy in neurofibromatosis.Vascular involvement in neurofibromatosis sometimes occurs and usually affects larger blood vessels of internal organs. We describe an unusual case of a now 41-year-old man with extensive skin involvement with ulcerations and histopathologic features of fibromuscular dysplasia, which has not been previously reported in the skin.- - - - - - - - - - ranking = 0.2keywords = dysplasia (Clic here for more details about this article) |
4/6. Vascular neurofibromatosis affecting the internal carotid artery: a case report.A patient with von Recklinghausen's disease presented with a right sixth nerve palsy. Investigations demonstrated unilateral dolichoectasia of the intracranial carotid artery and sphenoid wing dysplasia. This case demonstrates an association not previously documented, that of unilateral fusiform dilatation of the carotid artery with sphenoid wing dysplasia in the presence of classical neurofibromatosis.- - - - - - - - - - ranking = 0.4keywords = dysplasia (Clic here for more details about this article) |
5/6. A 4-year-old boy with neurofibromatosis and severe renovascular hypertension due to renal arterial dysplasia.A 4-year-old boy had severe hypertension, cardiac failure, and signs of neurofibromatosis. Arteriography disclosed renal artery stenosis in both kidneys with signs of ischemia, particularly in the right kidney. Because of insufficient response to antihypertensive therapy, a right-sided nephrectomy was performed. Histological examination of this kidney showed segmental stenosis in all branches of the renal artery. The vascular lesions were characterized by an intimal proliferation of spindle cells in a mucoid matrix with destruction of the internal elastic membrane frequently accompanied by loss or attenuation of the media and fibrosis of the adventitia. Occasionally, a nodular arrangement of the spindle cells at the interface between intima and media was observed. Immunohistochemical studies demonstrate a smooth-muscle cell origin for these cells.- - - - - - - - - - ranking = 0.8keywords = dysplasia (Clic here for more details about this article) |
6/6. Neurofibromatosis and arterial aneurysms.Neurofibromatosis (NF) is a common autosomal dominant disease characterized by the development of hamartomatous or neoplastic lesions due to the proliferation of neural crest cells. An association of aneurysmal arterial lesions with NF, which may have catastrophic complications, has been rarely reported. Our recent experiences with the diagnosis and management of three male NF patients with aneurysms is described. A 19-year-old-man with refractory hypertension due to unilateral, complex, unreconstructable renal artery aneurysms was successfully treated by nephrectomy. Histopathology demonstrated intramural renal artery Schwann cell proliferation. A 44-year-old patient underwent ligation of a ruptured superior mesenteric artery aneurysm. Finally, a femoral-popliteal artery saphenous vein bypass graft with aneurysm exclusion was performed in a 58-year-old-man with a 3.5 cm symptomatic popliteal artery aneurysm. In NF, the underlying pathology in large arteries is intramuscular Schwann cell proliferation with secondary fibrosis. Mesodermal dysplasia may affect small arteries resulting in stenosis, post-stenotic dilatation, or aneurysmal degeneration. Clinicians should be aware of the unusual association of NF with aneurysms, particularly the occult development of visceral and renal artery aneurysms. These lesions are subject to sudden rupture with potentially devastating consequences, and they mandate a high index of suspicion in NF patients.- - - - - - - - - - ranking = 0.2keywords = dysplasia (Clic here for more details about this article) |