Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022116 (ischemia)
 91,303 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An 11-year-old boy with slowly progressive gangrene caused by vasculopathy similar to that of neurofibromatosis (NF) type 1 (NF I; von Recklinghausen disease [NFvR]) and a newborn girl with idiopathic gangrene with vascular changes resembling those of NFvR prompted the analysis of all 105 propositi with NF (NF I and NF II) evaluated between January 2, 1982, and December 31, 1986, at the genetics clinic of University of South Florida. They were analyzed for renal hypertension, symptomatic ischemia, and known vascular changes. One additional 27-month-old boy with NFvR was found to have extensive vascular changes with renal hypertension. The vasculopathy indicated asymmetric over/undergrowth of cellular and extracellular components of the vascular wall and implied dysregulation of the paracrine growth mechanism. Immunocytochemical studies of affected vessels were done only in the 11-year-old boy and showed positive neuron-specific enolase, S-100 protein, and glial fibrillary acidic protein (GFAP) reactions indicative of Schwann cell involvement. The vascular changes in children with NFvR are mostly asymptomatic; however hypertension secondary to renal artery stenosis and/or Moya-moya disease have been reported infrequently. Our patients with vasculopathies provoked thoughts in regard to the so-called vascular NF, its place in current NF nomenclature and classification, relationship to fibromuscular dysplasia (FMD), and possible role in infantile gangrene.
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PMID:"Vascular neurofibromatosis" and infantile gangrene. 251 May 17

Vasculopathy in the syndrome of Von Recklinghausen's neurofibromatosis is a well known but clinically underestimated phenomenon. Its manifestations have included renovascular hypertension, occlusive cerebrovascular disease and visceral ischemia. The progressive arterial disease may involve small vessels on a regular basis and large vessels in a variety of angiographic patterns. A young neurofibromatosis patient is described with an aneurysm of the superior mesenteric artery complicating renovascular hypertension associated with aortic coarctation and renal artery stenosis. This unique angiographic demonstration illustrates the therapeutic dilemmas posed by the vascular disease associated with Von Recklinghausen's neurofibromatosis.
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PMID:Von Recklinghausen's vasculopathy. 642 59

A young man with severe abdominal pain and weight loss due to intestinal ischemia was examined. At operation, the origins of the celiac and superior mesenteric arteries were found to be compressed by plexiform neurofibromatosis. Symptoms were relieved by reconstructive arterial surgery.
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PMID:Abdominal angina and neurofibromatosis. 679 34

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.
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PMID:A 4-year-old boy with neurofibromatosis and severe renovascular hypertension due to renal arterial dysplasia. 817 25

A thirty-eight-year-old man with primary thrombocythemia, von Recklinghausen neurofibromatosis, and myocardial-infarction-related left ventricular aneurysm with spontaneous echocardiographic contrast was followed up, suggesting that: 1. Neurofibromatosis may promote silent myocardial infarction or ischemia. Whether involvement of cardiac sensory nerves is a possible underlying mechanism remains nevertheless uncertain. 2. Platelets, whose role in the genesis of spontaneous echocardiographic contrast has been advocated, are probably not involved in this phenomenon, even in large numbers.
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PMID:Absence of enhancement of spontaneous echocardiographic contrast by thrombocytosis in a patient with left ventricular aneurysm, primary thrombocythemia, and von Recklinghausen neurofibromatosis: a case report. 834 82

Ocular ischemic syndrome is extremely rare in childhood. Patients with moyamoya disease may be particularly susceptible to the development of ocular ischemia due to the associated carotid occlusion. A 19-month-old boy presented with neurofibromatosis and signs of ocular ischemia. At 29 months of age, he developed dense right vitreous hemorrhage and eventually lost vision in that eye due to phthisis. At almost six years of age, he developed an acute hemiplegia and was then diagnosed with moyamoya disease. This rare instance of childhood ocular ischemia in conjunction with moyamoya disease and neurofibromatosis demonstrates the serious ocular and systemic sequelae of occlusive vascular disease.
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PMID:Ocular ischemic syndrome in a child with moyamoya disease and neurofibromatosis. 872 42

A rare case is described: unilateral diffuse retinal ischemia in a 3-year-old girl with type I neurofibromatosis. Besides retinal involvement, the child developed melanocytic iridial hamartomas in the ipsilateral eye and skin disorders presenting as "milk-and-coffee" spots and freckles in the armpits. Differential diagnosis and pathogenesis of retinal ischemia in neurofibromatosis are discussed.
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PMID:[Ischemic lesions of the retina in a child with neurofibromatosis 1]. 972 Apr 3

A 42-year-old woman complicated with neurofibromatosis underwent both balloon percutaneous transluminal angioplasty (PTA) of the iliac artery and femoropopliteal (FP) bypass grafting for critical lower limb ischemia. Seven months after the initial intervention, a recurrence of stenosis in the iliac artery and at the anastomoses of the FP bypass necessitated both PTA and a repeat thrombectomy and finally resulted in the amputation of her left thigh. This is a rarely documented case of chronic arterial occlusion associated with neurofibromatosis, in which the prognosis of arterial reconstruction for such patients is suggested to be poor.
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PMID:Critical limb ischemia in a patient with von Recklinghausen's neurofibromatosis. Report of a case. 1105 96

Dysplasia of the renal and cervical arteries are well known, but dysplasia of the superior mesenteric artery (SMA) is less frequent and has specific presentation. There have been few reports on the different types of presentations. We report a series of 38 cases and present the characteristic features together with a comparison with data in the literature. These non-atheromatous non-inflammatory lesions of the arterial wall occurred either in a context of fibromuscular disease which cause is unknown (30/38 patients) or in patients with genetic disease such as neurofibromatosis (3/38) or Ehlers-Danlos disease (5/38). The fibromuscular disease presented three aspects with specific characteristics. a) stenosing lesions found predominantly in women with a different morphology than in the other localization (usually associated): irregular diffuse stenosis discovered in patients with hypertension, or ischemic digestive symptoms (6/14 patients). b) Aneurysms, also found predominantly in women, but less frequently associated with other dysplasias. These aneurysms were generally sacciform. Unlike data in the literature, our series only included rupture in 1/8 cases. The aneurysm was discovered during the exploration of abdominal pain or hypertension. c) The third type of fibromuscular disease concerned dissections which were observed in the male population, (except one case of segmental dysplasia), and presented with signs of digestive ischemia in the other seven patients, four in an emergency context requiring immediate treatment. Two genetic diseases were observed. a) Neurofibromatosis led to dysplasia analogous to fibromuscular disease, but with abnormal nerve formations in the wall. For the three cases observed, one involved only the visceral arteries and the two others thoraco-abdominal coarctation. b) We had five patients with Ehlers-Danlos syndrome, with dysplasia of the superior mesenteric artery. For three there was a fusiform dilatation and in one small aneurysms along the arterial trunk, which only required surveillance. There was only one aneurysm which required treatment by resection and venous graft. In these young patients, revascularization was generally achieved with autologous material and the prognosis was favorable. Embolization was successful in treating the sacciform aneurysm in one patient. In conclusion, dysplasia of the superior mesenteric artery has a specific presentation which must be recognized to enable diagnosis of this not uncommon condition in young subjects (even children) who often present with an acute abdomen requiring urgent treatment.
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PMID:[Thirty-eight cases of dysplasia of the superior mesenteric artery]. 1614 79

The neurofibromatoses are a heterogeneous set of genetic disorders having clinical manifestations that involve the skin, the nervous system, or both. In addition, the disease can be confounded by a broad spectrum of complications, such as various kinds of osseous lesion, vascular lesions, aqueduct stenosis, optic glioma, and learning disabilities. Neurofibromatosis results in vascular involvement in approximately 10% of cases. Stenotic lesions predominate, but aneurysms have been documented as well. Rarely noted, however, have been peripheral aneurysms. In this report, we discuss the case of a 66-year-old woman with type 1 neurofibromatosis and a popliteal artery aneurysm who was operated upon because of threatened limb ischemia. Histological findings confirmed neurofibromatous invasion of the vessel wall.
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PMID:Aneurysm of the popliteal artery in neurofibromatosis. 1622 11


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