1/143. Therapy-related myelodysplastic syndrome in adults with neurofibromatosis.Although an increased risk of hematologic malignancies in children with Neurofibromatosis-1 (NF-1) is well established, whether adults with NF-1 have an increased risk of such malignancies is unclear. We currently describe two adult patients with NF-1 who rapidly developed secondary myelodysplastic syndromes with abnormalities of chromosome 7 following chemotherapy for AML. We propose that adults with NF-1 also have abnormalities of hematologic progenitor cells.- - - - - - - - - - ranking = 1keywords = syndrome (Clic here for more details about this article) |
2/143. Spontaneous haemothorax: a cause of sudden death in von Recklinghausen's disease.Vasculopathy is a relatively frequent but poorly recognised manifestation of von Recklinghausen's neurofibromatosis. One of its more dramatic presentations is as spontaneous haemothorax. Clinicians and pathologists should be aware of this syndrome as a cause of sudden death in patients with neurofibromatosis.- - - - - - - - - - ranking = 0.2keywords = syndrome (Clic here for more details about this article) |
3/143. A patient with neurofibromatosis type 1 and watery diarrhoea syndrome due to a VIP-producing adrenal phaeochromocytoma.A patient with neurofibromatosis type 1 and watery diarrhoea syndrome due to a VIP-producing adrenal phaeochromocytoma (Case Report). J Intern Med 1999; 246: 231-234. A 43-year-old patient with neurofibromatosis type 1 suffered from watery diarrhoea syndrome induced by excessive production of vasoactive intestinal polypeptide (VIP) in an adrenal phaeochromocytoma. This case report emphasizes that patients with neurofibromatosis are prone to develop more than one disease induced by tumours originating from the neural crest. Since excessive VIP production in a phaeochromocytoma may mask the symptoms of catecholamine overproduction, and in view of the therapeutic consequences, neurofibromatosis patients with hyperVIP-aemia must be checked for the presence of a phaeochromocytoma.- - - - - - - - - - ranking = 1.2keywords = syndrome (Clic here for more details about this article) |
4/143. 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 = 0.2keywords = syndrome (Clic here for more details about this article) |
5/143. An unusual association of a rare variant of Friedreich's ataxia with type-I neurofibromatosis in a Nigerian Fulani family: a 5-year follow-up study.A very rare form of heredofamilial spinocerebellar degenerative disorder is reported in a 12-year old boy and his 39-year old Fulani mother. The two cases were compatible with the clinical picture of Harding's variant of spastic ataxia of childhood--a clinical and genetic entity distinct from the more common Friedreich's ataxia. The mode of progression of the disease and the computed tomographic (CT) and electrophysiologic findings in both patients also support the diagnosis. In addition, the mother had the typical clinical picture of type-1 neurofibromatosis combined with the rare heredofamilial ataxic syndrome. The signs of neurofibromatosis could not be detected in her child. The cases were followed up regularly for 5 years with the aim of identifying possible complications. These cases are reported because of the extreme rarity of Harding's variant of heredofamilial ataxia and the rarity of the association of this disorder with type-1 neurofibromatosis.- - - - - - - - - - ranking = 0.2keywords = syndrome (Clic here for more details about this article) |
6/143. Somatic mosaicism of a greater than 1.7-Mb deletion of genomic dna involving the entire NF1 gene as verified by FISH: further evidence for a contiguous gene syndrome in 17q11.2.We report on a third case with neurofibromatosis type 1 (NF1) due to mosaicism for a gross deletion in 17q11.2 covering the entire NF1 gene. The deletion was suspected in Giemsa banded chromosomes and was confirmed by fluorescence in situ hybridization using the cosmids CO919 from the 5' region, GO2121 from the central, H10410 from the 3' region of the NF1 gene, and the 1.7-Mb YAC 947G11 spanning the entire 350-kb genomic dna of the NF1 gene. The deletion was present in 33% of peripheral blood lymphocytes and 58% of fibroblasts. The clinical manifestations in this 6-year-old male patient were especially severe and extended beyond the typical features of NF1. The patient also displayed facial anomalies, severe and early-onset psychomotor retardation, seizures, spasticity, and microcephaly. These features differ from other large-deletion NF1 patients, even nonmosaic cases. The complex phenotype could be explained by the involvement of coding sequences flanking the NF1 gene, thus supporting the existence of a contiguous gene syndrome in 17q11.2.- - - - - - - - - - ranking = 1keywords = syndrome (Clic here for more details about this article) |
7/143. Double phakomatosis.In the phakomatoses--von Recklinghausen's disease, the sturge-weber syndrome, tuberous sclerosis, and von hippel-lindau disease--pathologic changes in the eye are often evident. Most cases are described as a single entity. The following is a case report of concomitant sturge-weber syndrome and von Recklinghausen's disease in which both conditions involved the eye.- - - - - - - - - - ranking = 0.4keywords = syndrome (Clic here for more details about this article) |
8/143. 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 = 0.2keywords = syndrome (Clic here for more details about this article) |
9/143. Spontaneous involution of pilocytic astrocytoma in a patient without neurofibromatosis type 1: case report.Serial magnetic resonance imaging findings are described in a patient with a sporadically occurring pilocytic astrocytoma that underwent spontaneous regression over 6 years. To the authors' knowledge, this is the first report in which spontaneous involution of a pilocytic astrocytoma not associated with neurofibromatosis type 1 has been described. A literature review regarding sporadic and syndrome-associated pilocytic astrocytoma was undertaken, with particular reference to treatment and natural history.- - - - - - - - - - ranking = 0.2keywords = syndrome (Clic here for more details about this article) |
10/143. Multiple endocrine adenomatosis of mixed type.A case of multiple endocrine adenomatosis (MEA) of mixed type is presented. The syndrome, observed in a 65 year-old female, consisted of multiple neurofibroadenomatosis, medullary thyroid carcinoma, multiple adenomata of the parathyroids, adrenal cortical adenoma and small cell anaplastic bronchogenic carcinoma. Thus, it was composed of type 1 as well as of type 2 MEA. On the basis of another seven cases, collected from the literature, the MEA syndrome of mixed type is reviewed with special reference to the phylogenetic origin of the cells of the APUD system.- - - - - - - - - - ranking = 0.4keywords = syndrome (Clic here for more details about this article) |
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