1/185. Cerebrovascular changes in neurofibromatosis.Vascular changes in neurofibromatosis are most commonly described in the renal arteries. In the present study, two children with neurofibromatosis and cerebral vascular occlusive changes demonstrated by cerebral angiography are reported. Although focal neurological findings in children with neurofibromatosis are often due to tumours, the sudden development of neurological symptoms in such cases should alert paediatricians to the possibility of cerebral vascular disease.- - - - - - - - - - ranking = 1keywords = cerebral (Clic here for more details about this article) |
2/185. Neurofibromatosis, stroke and basilar impression. Case report.Neurofibromatosis type 1 (NF1) can virtually affect any organ, presenting most frequently with "cafe au lait" spots and neurofibromas. Vasculopathy is a known complication of NF1, but cerebrovascular disease is rare. We report the case of a 51-year-old man admitted to the hospital with a history of stroke four months before admission. On physical examination, he presented various "cafe au lait" spots and cutaneous neurofibromas. neurologic examination demonstrated right-sided facial paralysis, right-sided hemiplegia, and aphasia. Computed tomography scan of head showed hypodense areas in the basal ganglia and centrum semiovale. Radiographs of cranium and cervical spine showed basilar impression. Angiography revealed complete occlusion of both vertebral and left internal carotid arteries, and partial stenosis of the right internal carotid artery. A large network of collateral vessels was present (moyamoya syndrome). It is an uncommon case of occlusive cerebrovascular disease associated with NF1, since most cases described in the literature are in young people, and tend to spare the posterior cerebral circulation. Basilar impression associated with this case may be considered a pure coincidence, but rare cases of basilar impression and NF1 have been described.- - - - - - - - - - ranking = 1.0708056328872keywords = artery, cerebral (Clic here for more details about this article) |
3/185. Peripheral arterial involvement in neurofibromatosis type 1--a case report.Neurofibromatosis is a dominantly inherited, progressive, generalized dysplasia of mesodermal and neuroectodermal tissues. Vascular lesions associated with neurofibromatosis type 1 (NF-1) are mainly characterized by stenosis, occlusion, aneurysm, pseudoaneurysm, and rupture or fistula formation of small, medium, and large-sized arteries. The authors hereby present a rare case of NF-1 with bilateral aneurysms and large pseudoaneurysms of the femoral and popliteal arteries and occlusion of the left superficial femoral artery.- - - - - - - - - - ranking = 612.66715308291keywords = aneurysm, artery (Clic here for more details about this article) |
4/185. A case of neurofibromatosis type 1 with an aldosterone-producing adenoma of the adrenal.Neurofibromatosis type 1 is a phacomatosis. Neurofibromas are the most common tumours associated with the disease, and along with other tumours, make neurofibromatosis type 1 the most common tumour predisposing syndrome in humans. hypertension may be coincidental, but at least two specific neurofibromatosis related causes must be considered, namely neurofibromatous involvement of the renal artery and pheochromocytoma. We have described the first known case of a patient with neurofibromatosis type 1 who developed hypertension due to an aldosterone-producing adenoma of the adrenal. The question of whether this association was coincidental or due to the tumour predisposition of neurofibromatosis type 1 was debated.- - - - - - - - - - ranking = 0.73747229955388keywords = artery (Clic here for more details about this article) |
5/185. Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features.Neurofibromatosis type 1 (NF1) is one of the commonest autosomal dominant disorders in man. It is characterised by cafe au lait spots, peripheral neurofibromas, Lisch nodules, axillary freckling, skeletal dysplasia, and optic glioma. Symptomatic brain tumours occur in 1.5-2.2% of patients with NF1. We report here a family where seven members developed brain tumours. Of these, three have a clinical history strongly suggestive of NF1, while two do not fulfil diagnostic criteria for the disorder. A splice site mutation in exon 29 of the NF1 gene was found in these two subjects. This lesion is thought to be disease causative since it creates a frameshift and a premature termination of the neurofibromin protein. Different hypotheses to explain the unusual recurrence of brain tumours in this family, such as the nature of the mutation or cosegregation of other predisposing genes, are discussed.- - - - - - - - - - ranking = 0.29016632054622keywords = brain (Clic here for more details about this article) |
6/185. A case of Miller-Dieker syndrome in a family with neurofibromatosis type I.The Miller-Dieker syndrome (type I lissencephaly) is a neuronal migration disorder which is associated with microdeletions in the short arm of chromosome 17. Neurofibromatosis type I (NF1) is an autosomal dominant condition associated with mutations in the long arm of chromosome 17, and characterised by neurofibromas, cafe-au-lait spots and axillary freckling. The neonatal period for a female infant born at 39 weeks gestation by emergency Caesarean section was complicated by frequent epileptic seizures as well as hypotonia. A computed tomography scan revealed evidence of lissencephaly, and chromosomal analysis showed a microdeletion on the short arm of chromosome 17 (17p13.3), confirming the diagnosis as Miller-Dieker syndrome. The child died at the age of 4 years and examination of the brain confirmed lissencephaly with a thickened cortex, deficient white matter, and grey matter heteropias. The mother had cafe-au-lait spots, and axillary freckling. In addition, the mother's and maternal grandmother's genetic analysis showed identical mutations in the neurofibromatosis I gene on the long arm of chromosome 17, confirming the diagnosis of NF1. The child did not possess the mutation. This case illustrates a rare neuronal migration disorder appearing in a child from a family with a history of NF1.- - - - - - - - - - ranking = 0.041452331506603keywords = brain (Clic here for more details about this article) |
7/185. Multiple coronary artery aneurysms in a child with neurofibromatosis type 1.A number of frequently unrecognised vascular manifestations have been described in patients with neurofibromatosis type 1 (NF1), including involvement of the great vessels, cerebral, visceral and renal arteries. Rarely, changes in the coronary arteries have been reported in adults with NF1. We report on a 16-year-old boy affected by NF1 with dysmorphic features and three aneurysms in the mid-portion of the left descending coronary artery disclosed by chance during investigation for a malignant peripheral nerve sheath tumour. Molecular analysis detected a gross de novo deletion in the NF1 gene. The boy had had no previous cardiac symptoms but died suddenly after developing signs and symptoms suggestive of myocardial infarction. CONCLUSION: To the best of our knowledge, this represents the first report of multiple lesions in the coronary arteries in a child affected by neurofibromatosis type 1 with a known deletion of the neurofibromatosis type 1 gene.- - - - - - - - - - ranking = 812.28274442134keywords = aneurysm, artery aneurysm, artery, cerebral (Clic here for more details about this article) |
8/185. Anatomical variants in the floor of the third ventricle; implications for endoscopic third ventriculostomy.Longstanding hydrocephalus and raised intracranial pressure can lead to unusual anatomical variants in the floor of the third ventricle, which may be important when performing endoscopic third ventriculostomy. Two middle aged patients with symptomatic longstanding hydrocephalus had scans that showed ventricular hydrocephalus, an empty sella, and a dilated infundibular recess which herniated into the sella turcica. Endoscopic third ventriculostomy confirmed that instead of the tuber cinerum and infundibular recess, the anterior inferior floor of the third ventricle was hanging down ventral to the pons into the sellar floor. Third ventriculostomy to the prepontine cistern was made on the dorsal wall of the dilated infundibular recess to the area surrounded by the dorsum sellae, the basilar artery trunk, and the left superior cerebellar artery, with good symptomatic control. association of the empty sella and persistence of the infundibular recess must be carefully evaluated by MRI before attempting endoscopic third ventriculostomy. Herniation of the anterior inferior floor of the third ventricle into the empty sella can lead to loss of anatomical landmarks that require special attention during third ventriculostomy.- - - - - - - - - - ranking = 1.4749445991078keywords = artery (Clic here for more details about this article) |
9/185. Cutis tricolor: congenital hyper- and hypopigmented lesions in a background of normal skin with and without associated systemic features: further expansion of the phenotype.The term cutis tricolor describes the uncommon co-existence of congenital hyper- and hypopigmented macules, in close proximity to each other, in a background of normal skin so far seen in a 17-year-old patient with various other congenital defects. The suggested explanation for this phenomenon is allelic twin spotting. We report on two boys, aged 6 and 11 years, with an unusual combination of three different degrees of pigmentation, one of whom had in addition, psychomotor delay, dysmorphic features, musculoskeletal abnormalities and subcortical and periventricular white matter high signal lesions on brain neuroimaging. In both cases a search for mosaicism in peripheral blood lymphocytes and cultured fibroblasts was negative. In contrast to the previously reported case, the two children had large streaks or patches of hyper- and hypopigmented skin lesions, in close proximity to each other, involving large areas of the body. The rest of the skin had a normal intermediate pigmentation. CONCLUSION: This combination of three degrees of pigmentation in association with systemic defects in one child and the lack of such association in the other confirms and further expands the clinical phenotype of cutis tricolor.- - - - - - - - - - ranking = 0.041452331506603keywords = brain (Clic here for more details about this article) |
10/185. Critical limb ischemia in a patient with von Recklinghausen's neurofibromatosis. Report of a case.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.- - - - - - - - - - ranking = 1.4749445991078keywords = artery (Clic here for more details about this article) |
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