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PubMed1976

[Pathogenesis of neurofibromatosis. Light- and electron microscopical investigations (author's transl)].

Light- and electron microscopical investigations of the pathogenesis of Recklinghausen's neurofibromatosis can support those views which consider the Schwanncells in these tumors to develop from mesenchymal cells, that means from reticular fibroblasts. It seems to be of special interest that these cells while transforming to Schwann cells become successive coated with a glycocalyx (surface coat); The whirle-or onion skin like formation of the tumor cells lead to a splitting of the ground substance into numerous compartments accompanied by a change in ground substance composition. This obviously cohere with an increasing number of mast cells within the tumor. It may be that these arrangements of the tumor tissue plays an important part in tumor growth. With this, the great importance of a regular composition of the extracellular matrix and cell surface coats for an undisturbed flow of information from cell to cell is discussed.

Cell Membrane↗
PubMed1991

Pseudoarthrosis of the ulna in neurofibromatosis. A report of four cases.

Four children suffering from neurofibromatosis with ulnar pseudarthrosis and progressive reabsorption of the middle and distal thirds of the ulna are reported. None had any pain or sensory loss, but all had progressive deformity of the forearm. Instability of the elbow and wrist were present in three cases, while one case showed good stability and function. A cross-union of the ulna with the radius to produce a one-bone forearm was accomplished using screw fixation and iliac bone grafting, and a one-bone forearm was achieved in three cases. Non-operative management was decided on in the patient with slow ulna reabsorption. The creation of a one-bone forearm is more likely to produce sound union, thus avoiding the need for further operations, while conservative management should be reserved for patients with a slowly progressive condition.

Bone Resorption↗
PubMed1994

Radiological investigation of neurofibromatosis type 2.

The radiological findings in six patients fulfilling the criteria of neurofibromatosis type 2 (NF2) were reviewed. Subtle cutaneous lesions were found in three. All patients had bilateral acoustic schwannomas; two had small acoustic tumours and normal hearing. In these patients the presenting symptoms were caused by multiple intracranial meningiomas and spinal neurofibromas, respectively, whereas the remaining four patients presented with hearing loss. Two patients had other cranial nerve tumours. Three patients had rapidly growing multiple intracranial meningiomas; two had multiple spinal neurofibromas and one a spinal meningioma. NF2 is a rare disease with few cutaneous but frequent, typical radiological findings in the central nervous system. The presenting symptom is most commonly hearing loss due to acoustic schwannomas, although symptoms emanating from other intracranial or tumours are not uncommon. The discovery of multiple meningiomas or multiple spinal neurofibromas without cutaneous lesions should initiate a search for acoustic schwannomas even when the patient has normal hearing.

Adolescent↗
PubMed1992

Neurofibromatosis with dural ectasia and bilateral symmetrical pedicular clefts: report of two cases.

We present two cases of bilateral, symmetrical pedicular clefts associated with dural ectasia in von Recklinghausen's disease (neurofibromatosis). In one case the pedicular cleft was at the T12 level, while in the other it was at L4, and was responsible for spondylolisthesis. Two hypotheses are advanced to explain the cleft: (1) a congenital, dysplastic osseous defect and (2) bilateral stress fractures related to thinning of the pedicle caused by dural ectasia.

Adult↗
PubMed1992

CT detection of basal ganglion lesions in neurofibromatosis type 1: correlation with MRI.

Prospective study of CT and MRI in 41 consecutive children with suspected type 1 neurofibromatosis revealed basal ganglion lesions on T2-weighted spin echo images in 22 cases (54%) and on CT in only 7 of those (32%). T2-weighted spin-echo MRI also revealed multiple signal changes in the supra- and infratentorial white matter and brain stem that went completely unnoticed on CT.

Adolescent↗
PubMed1977

[Spinocerebellar atrophy and cerebellar calcification in a case of central neurofibromatosis (author's transl)].

A woman of 27 years without any family history developed a progressive spinocerebellar disorder and died 28 years later. The mean neuropathological findings were cerebello-olivary atrophy (late atrophy), degeneration of the dentate nuclei and brachia conjunctiva, degeneration of the pyramidal and psinocerebellar tracts and of the pars reticulata of substantia nigra. Findings according to Hallervorden-Spatz' disease were confined to the globus pallidus. Extensive calcification occurred in the cerebellar cortex and the dentate nuclei. Foci of atypical glia, glial ectopias, subependymal glial modules and focal neuromas were found in the brain. It is suggested that this unique case represents a combination of spinocerebellar degeneration and central neurofibromatosis.

Brain↗
PubMed1979

A case of neurofibromatosis with severe osseous disease of the thoracic spine.

A case of neurofibromatosis in a 7-year-old boy from Greenland is presented. The patient suddenly developed a severe thoracic scoliosis because of a total luxation of the upper thoracic vertebrae caused by erosion from soft tissue tumours in the region. Tomography revealed the bone changes, and CT whole-body scanning showed the extent of the soft tissue tumours and also the destruction of the vertebrae. The diagnosis was verified by biopsy.

Child↗
PubMed1998

The neurosurgical aspects of neurofibromatosis 2: diagnosis and management.

NF-2 is an extremely rare form of neurofibromatosis (NF) characterized by central system (CNS) neural crest-derived tumors and frequently cafe au lait spots (CLS). The purpose of this study was to report the clinical and imaging findings of seven patients with this disorder and to stress that value of surgical treatment in its management. Seven patients between 8 and 32 years of age who had NF-2 were included in the study. Clinical charts, surgical and pathological findings, and imaging studies were reviewed retrospectively. Patients were followed up for to 142 months. Clinical evaluation and neuroimaging studies detected the clinical criteria of NF-2 in all patients. Two deaths occurred after surgical intervention in our series. None of the patients suffered from recurrent tumor following surgery. Our results show that NF-2 is an uncommon entity which has a good prognosis after surgical intervention, in spite of the presence of multiple cranial and/or spinal lesions.

Adolescent↗
PubMed1991

Linkage analysis of neurofibromatosis type 1. Study of a homogeneous North Italian population with five DNA markers of chromosome 17.

The authors report the results of a genetic analysis performed in 34 neurofibromatosis type 1 (NF1) Italian families using five loci tightly linked to NF1: D17S33, D17S82, D17S83, D17S37, and D17S36. A two-point linkage analysis was performed with the LINKAGE and the CRI-MAP programs. The map of the region was constructed using the MAP90 program. Data from the present study lend further support to evidence that all NF1 mutations are allelic and that the NF1 locus resides in the proximal region of chromosome 17q. Close linkage of NF1 to all the markers was found. Two of them, namely D17S82 and D17S83, showed the highest linkage with a value of 0 recombination frequency and lod scores of 3.77 and 4.02, respectively. The best map found is D17S33-D17S82-NF1-D17S83-D17S37-D17S36+ ++. The authors stress that knowledge of precise order is essential; if D17S82 and D17S83 are proved to flank the NF1 gene, they allow an acceptable presymptomatic diagnosis in informative families.

Chromosomes, Human, Pair 17↗
PubMed1993

Neurofibromatosis type 1 gene product (neurofibromin) associates with microtubules.

The neurofibromatosis type 1 (NF1) gene was recently identified by positional cloning and found to encode a protein with structural and functional homology to mammalian and yeast GTPase-activating proteins (GAPs). Using antibodies directed against the NF1 gene product, a protein of approximately 250 kDa was identified and termed neurofibromin. Double-indirect immunofluorescent labeling with anti-neurofibromin and anti-tubulin antibodies demonstrates that neurofibromin associates with cytoplasmic microtubules. Immunoblotting of microtubule-enriched cytoplasmic fractions, using antibodies generated against neurofibromin, shows that neurofibromin copurifies with microtubules. When portions of neurofibromin are expressed in Sf9 insect cells they associate with polymerized microtubules; furthermore, the critical residues for this interaction reside within the GAP-related domain of neurofibromin. The unexpected association of neurofibromin with microtubules suggests that neurofibromin is involved in microtubule-mediated intracellular signal transduction pathways.

3T3 Cells↗
PubMed1993

A de novo nonsense mutation in exon 28 of the neurofibromatosis type 1 (NF1) gene.

We have screened a total of 105 unrelated patients with neurofibromatosis type 1 (NF1) for mutations in exon 28 of the NF1 gene using heteroduplex analysis and single strand conformation polymorphism analysis. One novel mutation has been identified and characterised. This mutation involves a 13-bp deletion (AAACTGGCTGAGC or AACTGGCTGAGCA) from base position 5077 (or 5078) to 5089 (or 5090) of the cDNA coding sequence. This alteration leads to a reading frame shift with a premature amber termination signal (TAG) at codon 1694. In addition, there is a change from lysine to threonine at codon 1693. The truncated gene product is estimated to be 1125 amino acid residues shorter than the predicted normal protein (2818 amino acids).

Alleles↗
PubMed1996

MRI findings in children with neurofibromatosis type 1: a prospective study.

To determine the frequency and nature of MRI lesions in children with neurofibromatosis type I (NF1), 50 patients aged 8 to 16 years were evaluated prospectively with cranial MRI. Forty-one children were asymptomatic with respect to central nervous system pathology, and 50% were macrocephalic. Sixteen patients (32%) had normal MRI examinations. Thirty-two patients (64%) had high intensity lesions on T2-weighted images and 16 patients (32%) had hyperintense lesions on T1-weighted images. Seven patients (14%) had ventricular dilatation (associated with increased intracranial pressure in 2) and 11 patients (22%) had optic pathway lesions (optic glioma in 7). MRI was superior to CT in differentiating optic sheath thickening and optic nerve tortuosity from optic glioma in four patients. An intracranial tumour (ependymoma) and sphenoid wing dysplasia were evident in individual patients. Findings previously unreported in NF1 included an aqueductal web resulting in hydrocephalus, intraocular neurofibroma resulting in retinal detachment, and asymptomatic enlargement of the septum pellucidum. T1 and T2 signal abnormalities in isolation were not associated with neurological deficits or the occurrence of macrocephaly, and all lesions that required intervention were suspected clinically. Macrocephaly in the absence of increased intracranial pressure or accelerated head growth is not an indication for neuroimaging in children with NF1. However, the majority of children (68%) had disease-specific abnormalities and thus MRI may provide a useful adjunct to clinical evaluation in the diagnosis of equivocal cases.

Brain↗
PubMed1995

A clonal translocation t(10;21) in an optic glioma of a patient with neurofibromatosis type 1 (NF 1).

An 11-year-old boy affected by neurofibromatosis type 1 is presented with severely impaired vision on the right eye (0.1). MRI demonstrated a 2.3 x 1.8 cm tumour of the optic chiasma. After open biopsy cytogenetic analysis was performed on primary cultures of this optic glioma (grade I). A clonal translocation t(10;21)(q21.2;21.1) was detected in 66% of the metaphases analysed. The boy received fractioned irradiation with a total tumour dose of 60 Gy. The ultimate MRI taken 18 months after radiotherapy showed no residual tumour. The vision on the right improved to 0.2, but decreased on the left to 0.6. The patient attends high school with no impairment in his daily life.

Adolescent↗
PubMed1997

Intramedullary spinal cord tumour associated with neurofibromatosis type 1.

We investigated the characteristic features of intramedullary spinal cord tumour associated with neurofibromatosis type 1 (NF-1). We have experienced 44 cases of pathologically confirmed intramedullary spinal cord tumour. Diagnosis of NF-1 was done according to the criteria set by the National Institute of Health Consensus Development Conference. Within the described population NF-1 was diagnosed in two patients. Both the patients were male and histopathologically the tumours were anaplastic astrocytoma and glioblastoma multiforme respectively. 6 cases of NF-1 associated with intramedullary spinal cord tumour based on the above diagnostic criteria have so far been reported, including our 2 cases. Of these 6 cases, 5 were male and in one sex was not described. The tumour was an astrocytoma in all 6 cases. This finding suggested that intramedullary spinal cord tumour associated with NF-1 tends to occur predominantly in males and that histopathologically the tumour is likely to be an astrocytoma. We conclude that the criteria proposed by the National Institute of Health Consensus Development Conference are contributory in making an accurate pre-operative pathological diagnosis of intramedullary spinal cord tumour associated with NF-1.

Adolescent↗
PubMed1995

The comparison between the growth fraction of bilateral vestibular schwannomas in neurofibromatosis 2 (NF2) and unilateral vestibular schwannomas using the monoclonal antibody MIB 1.

Formalin-fixed paraffin sections of 55 consecutive bilateral vestibular schwannomas in 46 patients with neurofibromatosis 2 (NF2), and 50 patients with unilateral vestibular schwannomas were investigated immunohistochemically with the monoclonal antibody MIB 1 directed against recombinant parts of Ki-67 antigen. The immunohistochemical staining was carried out on dewaxed microwave oven-processed paraffin sections of formalin-fixed tumour tissues. The labelling index (LI) obtained was compared to clinical and histological findings in both groups. There was no correlation between the LI and age of the patients, tumour size, or histological type of tumour (Antoni A or B). Vestibular schwannomas in NF2 showed higher LI than unilateral vestibular schwannomas: the maximal LI found per section (LI max) ranged from 0.4 to 17.6% (mean, 2.7%) in NF2 schwannomas, and from 0 to 9% (mean, 2.2%) in unilateral schwannomas. These differences may express immunohistochemically some clinical and morphological differences between bilateral and unilateral vestibular schwannomas.

Adolescent↗
PubMed1990

Lumbosacral dural anomalies in von Recklinghausen neurofibromatosis.

The lumbosacral dural abnormalities in two patients with von Recklinghausen neurofibromatosis (vRNF) are described. Analysis of 18 previously reported cases revealed considerable morphological variations of the lumbosacral dural lesions associated with vRNF, but three basic forms may be distinguished. The pathogenesis of these lesions is still controversial. The contrast studies in our patients, especially the computed tomographic myelography (CTM), suggest that the meningocoeles in vRNF are, in fact, abnormally dilated and elongated nerve root sleeves and should, therefore, be distinguished from other types of meningeal cysts occurring in the lumbosacral region. The clinical significance of these dural anomalies are discussed.

Adult↗