1/88. Spontaneous partial regression of low-grade glioma in children with neurofibromatosis-1: a real possibility.At the age of 41 and 31 months, respectively, a boy and a girl affected by neurofibromatosis-1 were diagnosed with a visual pathway glioma during surveillance contrast-enhanced head magnetic resonance imaging (MRI). In the first child, the initial MRI showed that the entire optic chiasm, the intracranial tract of the left optic nerve, and hypothalamus were grossly enlarged and enhanced in the post-gadolinium T1-weighted images. Ten months later, the hypothalamic component of the lesion had regressed markedly and there were no more areas of contrast enhancement. In the second child, the initial MRI showed that the optic chiasm, the right optic tract, and geniculate body were enlarged and enhanced after gadolinium injection. At 6-month follow-up, the MRI showed that the right optic tract and the anterior aspect of the optic chiasm decreased in size and the contrast enhancement of the entire lesion was reduced dramatically. These findings, as indicated by other similar reports, confirm that spontaneous regression of visual pathway glioma is a rare but real possibility in children with neurofibromatosis-1. Therefore, clinicians need to be aware of visual pathway glioma's erratic behavior in children with neurofibromatosis-1 with special attention given to the importance of a very conservative attitude toward any type of treatment for such patients.- - - - - - - - - - ranking = 1keywords = glioma (Clic here for more details about this article) |
2/88. Gliomatosis cerebri with neurofibromatosis: an autopsy-proven case.Gliomatosis cerebri is a glial neoplastic process that is diffusely distributed through neural structures, whose anatomical configuration remains intact. Among the more than 19,000 cases hospitalized in Istanbul University Istanbul School of medicine Department of neurosurgery throughout the past 45 years, only 2 cases were diagnosed as gliomatosis cerebri, 1 by stereotactic ante-mortem diagnosis and the other after autopsy. In this paper, the autopsy-proven case of this rare disease with coexistent neurofibromatosis--the sixth case reported in the literature--is presented.- - - - - - - - - - ranking = 0.14285714285714keywords = glioma (Clic here for more details about this article) |
3/88. hearing loss in neurofibromatosis type 1: report of two cases.We report two cases of sixteen year old female patients with NF1 and hearing loss. One patient had only cafe-au-lait spots, while the other patient had severe manifestations of NF1 in form of kyphoscoliosis, requiring multiple laminectomies, vertiginous attacks and optic radiation glioma seen on MRI. Other investigations included pure tone audiograms, autoimmune inner ear disease (AIED) tests. The patient with slight manifestations of NFI had mild to moderate low frequency bilateral sensorineural hearing loss, which showed 20 dB improvement in hearing threshold with steroid treatment. On the other hand, the patient with severe manifestations of NFI disease had profound sensorineural hearing loss with vertiginous episodes. hearing loss which is usually seen in patients with acoustic neuroma, neurofibromatosis type II, is also an important symptom in patients with neurofibromatosis type I.- - - - - - - - - - ranking = 0.14285714285714keywords = glioma (Clic here for more details about this article) |
4/88. Recurrent NF1 gene mutation in a patient with oligosymptomatic neurofibromatosis type 1 (NF1).We report a 21-year-old male with symptomatic optic glioma who does not fulfill the diagnosis of neurofibromatosis 1 (NF1) according to standard NIH criteria. Analysis of the NF1 gene revealed a recurrent mutation in exon 37 (C6792A or Y2264X). This nonsense mutation causes skipping of exon 37 during the splicing process and is predicted to result in a protein shortened by 34 amino acid residues. The mutation was detected in all tissues examined (blood lymphocytes, oral mucosa, and dermal fibroblasts). The same mutation was previously found in 3 patients with clinically confirmed NF1. To our knowledge, this is the first report of an adult patient carrying a putative (non-mosaic) NF1 gene mutation in multiple tissues but not fulfilling the NIH criteria for the clinical diagnosis of NF1.- - - - - - - - - - ranking = 0.14285714285714keywords = glioma (Clic here for more details about this article) |
5/88. 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 = 0.14285714285714keywords = glioma (Clic here for more details about this article) |
6/88. Eighteen-year survival of a patient with malignant pleomorphic xanthoastrocytoma associated with von Recklinghausen neurofibromatosis.The authors report the first adult case of pleomorphic xanthoastrocytoma associated with neurofibromatosis-1. A 40-year-old man with history of neurofibromatosis-1 underwent total removal of a right temporo-parietal superficial glioma followed by radiation therapy. Eighteen years after surgery, the patient remained well with no tumour recurrence, which prompted review of the surgical material. The diagnosis of pleomorphic xanthoastrocytoma was then made though the tumour exhibited malignant features histologically, with marked necrosis. This extremely good clinical outcome suggest that some astrocytoma tumours in patients with neurofibromatosis might be associated with a favourable prognosis.- - - - - - - - - - ranking = 0.14285714285714keywords = glioma (Clic here for more details about this article) |
7/88. Spontaneous regression of low-grade astrocytomas in childhood.An 8-year-old boy with neurofibromatosis type 1 (NF1) and a biopsy-proven juvenile pilocytic astrocytoma of the hypothalamic/chiasmatic region was followed with serial MRIs over 4 years. Spontaneous tumor regression was followed by progression and biopsy; 6 months later, the tumor regressed again. This bimodal regression is rare, but highlights the variable natural history of low-grade gliomas in children with NF1 and the difficulty in evaluating response of such tumors to therapy.- - - - - - - - - - ranking = 0.14285714285714keywords = glioma (Clic here for more details about this article) |
8/88. gigantism due to growth hormone excess in a boy with optic glioma.True gigantism is rare in early childhood and is usually due to excess GH secretion from a pituitary adenoma. We report a case in which the endocrine abnormality is secondary to an optic glioma. Careful endocrine evaluation has shown that GH peak amplitude was not increased but rather there was failure of GH levels to suppress to baseline and a lack of pulsatility. There is no evidence of a direct secretory role for the tumour and we postulate that the tumour is affecting GH secretion through an effect on somatostatin tone. Specific tumour therapy is not indicated for this patient in the absence of mass effect or visual disturbance. The GH excess is being treated with somatostatin analogue (octreotide) and as he has developed precocious puberty he is also receiving long acting GnRH analogue (Zoladex). This boy appears likely to have neurofibromatosis type 1 (NF1) which raises the question of subtle GH excess in NF1 patients with tall stature.- - - - - - - - - - ranking = 0.71428571428571keywords = glioma (Clic here for more details about this article) |
9/88. Generalized nerve sheath tumors in neurofibromatosis type 1 (NF1). A case report.We describe a case of chronic distal sensorimotor neuropathy associated with neurofibromatosis type 1 (NF1) in a 15-year old girl. The patient showed a striking clinical picture consisting of diffuse nodular enlargements of peripheral nerves. Motor conduction velocities were decreased and sensory responses were absent after maximal stimulation. magnetic resonance imaging (MRI) was performed throughout the body and disclosed generalized nerve sheath neurofibromas affecting all peripheral nerves. Intracranially, the patient had a glioma of the left optic nerve, but no other cranial nerve involvement. These results demonstrate the value of MRI for visualization of the peripheral nervous system in neurofibromatosis.- - - - - - - - - - ranking = 0.14285714285714keywords = glioma (Clic here for more details about this article) |
10/88. Moyamoya syndrome after radiation therapy for optic pathway glioma: case report.We present a 4-year-old girl with neurofibromatosis-1 who developed moyamoya syndrome characterized by bilateral stenosis or occlusion of the distal internal carotid arteries and their branches, leading to the development of an abnormal vascular network. In light of a literature review, the postradiation vasculopathy of the moyamoya type and its relationship with neurofibromatosis-1 are discussed.- - - - - - - - - - ranking = 0.57142857142857keywords = glioma (Clic here for more details about this article) |
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