1/88. Neurofibromatous ureteral obstruction relieved by sigmoid conduit cystoplasty.Neurofibromatosis is a neural disease of hereditary nature affecting both sexes of all races. Visceral and central nervous system involvement can cause serious interference with normal function of affected structures. Under these circumstances, lifelong observation and individualized treatment of the patient are essential to proper management. This report is an account of nearly 2 decades of conservative management of neurofibromatosis of the pelvis in a young woman. Progressive, bilateral ureteral obstruction developed but normal function of the urinary tract has been maintained for the last 10 years with a sigmoid conduit cystoplasty. It is anticipated that continued progression of the disease will require cutaneous transfer of the sigmoid conduit. Also, a colostomy might become necessary because of recent evidence of rectal obstruction noted on computed tomography.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
2/88. 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 = 0.87714880546035keywords = brain (Clic here for more details about this article) |
3/88. 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 = 0.12530697220862keywords = brain (Clic here for more details about this article) |
4/88. Intraventricular malignant triton tumour.The authors present the clinical and pathological features of a malignant triton tumour (MTT) in the lateral ventricle with neurofibromatosis type 1. A 57 year-old man presented with disorientation and memory disturbance. A Computed tomographic scan and magnetic resonance imaging studies revealed an enhancing lesion in the left lateral ventricle. A parieto-occipital transcallosal approach was taken and resection of the lesion was performed. The operative findings suggested that the tumour arose from the perivascular nerves. The final pathological diagnosis was a MTT. This is the first case of an intraventricular MTT. Aggressive treatment including radical surgery combined with radiochemotherapy is recommended for a MTT of the central nervous system.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
5/88. 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 = 0.12530697220862keywords = brain (Clic here for more details about this article) |
6/88. Neurofibromatosis type 1 presenting with hand dystonia.Neurofibromatosis type 1 is frequently associated with increased intensity T2-weighted magnetic resonance imaging (MRI) brain abnormalities, called "unidentified bright objects." Unidentified bright objects are generally held to be benign and tend to decrease in size during adulthood. We describe a case of neurofibromatosis type 1 with a similar thalamic and subthalamic MRI abnormality associated with contralateral hand dystonia. Over a 2-year follow-up, the lesions showed a reduction in size apparently correlated with a reduction in symptoms.- - - - - - - - - - ranking = 0.12530697220862keywords = brain (Clic here for more details about this article) |
7/88. Atypical focal non-neoplastic brain changes in neurofibromatosis type 1: mass effect and contrast enhancement.Children and young adults with neurofibromatosis type 1 often have small high-signal foci on T2-weighted images of the brain. We describe follow-up of two patients in whom one of the foci had atypical features, commonly regarded as signs of a neoplasm. In the first, one lesion showed temporary contrast enhancement and decreasing mass effect. The second developed an expanding lesion that increased minimally in size over 4.5 year's follow-up. The borderline between neoplastic and non-neoplastic lesions seems to be indistinct.- - - - - - - - - - ranking = 0.6265348610431keywords = brain (Clic here for more details about this article) |
8/88. Hemispheric cerebral gliomas in children with NF1: arguments for a long-term follow-up.BACKGROUND: Neurofibromatosis type 1, or peripheral neurofibromatosis, is the most form of common phakomatosis. In some instances, it can be associated with tumors of the central nervous system. CASE REPORT: We describe four cases of hemispheric cerebral glioma in children with NF1. Two of these tumors were pilocytic astrocytomas and two, ependymomas. We reviewed the literature on hemispheric cerebral gliomas in NF1 patients in an attempt to find characteristic features of and some explanations for these lesions. CONCLUSION: We conclude that surgical resection of these tumors should be proposed whenever possible, with due consideration for their progressive nature and the uncertainties about malignancy. We advocate yearly clinical and neuroradiological follow-up over a long period in NF1 children, since they may develop additional CNS tumors during their lifetime.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
9/88. magnetic resonance spectroscopy in childhood brainstem tumors.Five children with brainstem tumors and two control patients had magnetic resonance spectroscopy studies of the brainstem. Two of the malignant tumor patients had magnetic resonance spectroscopy studies before and after radiation therapy. The third was irradiated 14 years earlier but developed new symptoms and a new brainstem lesion on MRI. magnetic resonance spectroscopy demonstrated a different degree of malignancy between the old and new lesion. The fourth patient had magnetic resonance spectroscopy of a chronic, large pontine lesion 6 years after diagnosis and radiation. The spectral pattern suggested a low degree of malignancy. The fifth patient had neurofibromatosis type 1 with brainstem lesions. magnetic resonance spectroscopy suggested neoplastic tissue of low malignancy. These results suggest that magnetic resonance spectroscopy offers additional information for anticipating the degree of anaplasia in children with brainstem tumors.- - - - - - - - - - ranking = 1.1277627498776keywords = brain (Clic here for more details about this article) |
10/88. Congenital asymmetric crying facies and agenesis of corpus callosum.Although association of congenital asymmetric crying facies (CACF) with major congenital anomalies of central nervous system (CNS) has been described, brain magnetic resonance imaging (MRI) studies have not been reported. Two children who had CACF associated with agenesis of corpus callosum (ACC) diagnosed by MRI are described. Neurofibromatosis type 1 (NF-1) was diagnosed in one case. Both patients had developmental delay. To the best of our knowledge, only one previous case with CACF associated with ACC has been reported, but our cases are the first cases reported with the characteristic findings of ACC on MRI. Although cafe-au-lait spots have been described in previous cases, the coexistence of CACF and NF-1 has not previously been reported. Although these associations may be coincidental, clinicians should be aware of the potential link between these entities. Furthermore, these findings emphasize the importance of MRI studies for detecting brain anomalies in cases with CACF and suspected CNS involvement.- - - - - - - - - - ranking = 1.2506139444172keywords = central nervous system, nervous system, brain (Clic here for more details about this article) |
| | Next -> |