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PubMed2004

Hypersensitive carotid sinus syndrome due to neurofibromatosis-1 and manifested by repeated episodes of syncope.

A 28-year-old patient with neurofibromatosis-1 presented with syncope. The exam demonstrated a mass adjacent and inferior to the right occiput that extended to the posterior lateral right-sided neck. Initial invasive and noninvasive testing was negative. Imaging of her head and neck demonstrated a large neurofibroma enveloping her right carotid sinus without vessel occlusion or evidence of malignancy. An event recorder documented asystole. A pacemaker was implanted to avoid the surgical morbidity of removing the neck mass. The patient has since been free of syncope. We believe neurofibromatosis-1 should be included in the differential of syncope.

Adult↗
PubMed1986

The genetic aspects of neurofibromatosis.

Although the genetic pattern in NF has been definitely established as autosomal dominant, more precise data regarding penetrance, natural history, prevalence, and heterogeneity are needed for the counseling of families. NF is the prototypic disorder for the study of the biologic mechanisms of variable expressivity. The widely cited prevalence figure of Crowe is probably too high; thus the mutation ratio estimation in NF is among the highest in man but close to other common Mendelian disorders. With the existing data on frequency of Lisch nodules and with future prospective date on café-au-lait spot development, an age-of-onset penetrance curve for NF could be constructed for genetic counseling purposes. The segmental form of NF is of interest as cases of this presentation may be helpful in studying the hypothesis of human somatic mutation when DNA analysis is available. Guidelines for routine evaluation and ongoing health supervision of individuals with neurofibromatosis need to be developed; multidisciplinary NF clinics and collaborative study groups are appropriate settings for this undertaking. Neurofibromatosis is an important disorder for the study of the psychodynamic processes that families experience in dealing with uncertainty.

Adolescent↗
PubMed1986

Oncogene expression in neurofibromatosis.

To investigate the role of oncogenes in malignancies characteristic of neurofibromatosis, oncogene transcripts were quantitated in a neurofibrosarcoma and in control tissue from a patient with hereditary neurofibromatosis. Sis and N-ras were moderately hyperexpressed, raf, Blym, and erbA were slightly hyperexpressed, and abl, erbB, fes/fps, fgr, fos, mos, myb, myc, N-myc, rasHarvey, rasKirsten, ros, src, and yes were not hyperexpressed in the tumor compared to the control tissue. Although additional tumors will be assayed before conclusions are possible, it may be significant that the two oncogenes most hyperexpressed are prior suspects for a pathogenetic role in tumors of the nervous system.

Gene Expression Regulation↗
PubMed1995

Neuropathology and molecular genetics of neurofibromatosis 2 and related tumors.

Neurofibromatosis 2 (NF2) is an uncommon, autosomal dominant disorder in which patients are predisposed to neoplastic and dysplastic lesions of Schwann cells (schwannomas and schwannosis), meningeal cells (meningiomas and meningioangiomatosis) and glial cells (gliomas and glial hamartomas). Clinical and genetic criteria that distinguish NF2 from neurofibromatosis 1 have allowed more accurate assignment of specific pathological features to NF2. The NF2 tumor suppressor gene on chromosome 22q12 encodes a widely expressed protein, named merlin, which may link the cytoskeleton and cell membrane. Germline NF2 mutations in NF2 patients and somatic NF2 mutations in sporadic schwannomas and meningiomas have different mutational spectra, but most NF2 alterations result in a truncated, inactivated merlin protein. In NF2 patients, specific mutations do not necessarily correlate with phenotypic severity, although grossly truncating alterations may result in a more severe phenotype. In schwannomas, NF2 mutations are common and may be necessary for tumorigenesis. In meningiomas, NF2 mutations occur more commonly in fibroblastic than meningothelial subtypes, and may cluster in the first half of the gene. In addition, in meningiomas, a second, non-NF2 meningioma locus is probably also involved. Future efforts in NF2 research will be directed toward elucidating the role of merlin in the normal cell and the sequelae of its inactivation in human tumors.

Humans↗
PubMed2000

Phakomatoses. Part I: Neurofibromatosis type 1: common and uncommon neuroimaging findings.

Neurofibromatosis type I (NF-1) belongs to a family of diseases named phakomatoses, which are characterized by congenital malformations of ectodermal structures. Neurofibromatosis type I affects 1 in 3000 people, and has a diverse clinical presentation as well as an array of imaging findings. In this article the authors review the various neuroimaging findings present in NF-1, including abnormalities of the parenchyma, meninges, vessels, and associated neoplasms.

Brain↗
PubMed1999

Paediatric presentation of type 2 neurofibromatosis.

BACKGROUND: Neurofibromatosis type 2 (NF2) is a highly penetrant autosomal dominant condition predisposing affected individuals to schwannomas and meningiomas. The proportion of children presenting with meningioma or schwannoma who have NF2 is not well described, and neither is the mode of presentation in most children with the inherited disease. AIMS: To determine the frequency of childhood meningioma and schwannoma cases caused by NF2 and the mode of presentation. METHODS: The records of the Manchester Children's Tumour Registry from 1954 were searched for cases of meningioma and schwannoma. Paediatric presentation in a large UK series of NF2 was also studied. RESULTS: 18% (61/334) of patients with NF2 on the UK database presented in the paediatric age group (0-15 years), frequently with the symptoms of an isolated tumour. More than half had no family history to alert the clinician to their susceptibility. Three of 22 children presenting with a meningioma on the Manchester Children's Tumour Registry have gone on to develop classic features of NF2. CONCLUSIONS: Clinicians should suspect NF2 in children presenting with meningioma, schwannoma, and skin features, such as neurofibromas/schwannomas, but fewer than 6 café au lait patches, who thus fall short of a diagnosis of neurofibromatosis type 1.

Child↗
PubMed1978

Von Hippel's disease in association with von Recklinghausen's neurofibromatosis.

Ten members of a large family who showed manifestations of either von Hippel-Lindau disease or von Recklinghausen's neurofibromatosis were examined. Three of 10 members were found to have retinal angiomas which had not been present on fundus examination 3 years previously. These angiomas were associated with ocular and systemic signs of neurofibromatosis. These cases show overlapping manifestations of different phakomatoses and provide support for the concept of a common aetiology for these diseases.

Adolescent↗
PubMed1990

Uveal malignant melanoma and optic nerve glioma in von Recklinghausen's neurofibromatosis.

A case of uveal malignant melanoma and contralateral optic nerve glioma is described in a 53-year-old Caucasian male with multiple uveal melanocytic hamartomas and neurofibromatosis. The eye was enucleated, and histologically the melanoma was found to consist of 70% epithelioid cells, with many bizarre, multinucleated forms. CT scan demonstrated a non-enhancing, fusiform enlargement of the contralateral optic nerve with enlargement of the optic canal and intracranial extension. This combination of tumours has not previously been reported in a patient with neurofibromatosis and serves to emphasise the common neuroectodermal origin of tumours in this autosomal dominant condition.

Cranial Nerve Neoplasms↗
PubMed1987

Achalasia like disorder of the oesophagus in von Recklinghausen's neurofibromatosis.

The association of achalasia like disorder of the oesophagus with von Recklinghausen's neurofibromatosis to our knowledge not previously reported is described in a 56 year old man who also had bladder dysfunction. At necropsy the oesophageal myenteric plexus showed ganglion cell depletion with nerve fibre hyperplasia probably the result of Schwann cell hyperplasia. We suggest that the disturbances of oesophageal and bladder function were a consequence of involvement of the autonomic nervous system by neurofibromatosis.

Autonomic Nervous System Diseases↗
PubMed2004

Neurofibromatous neuropathy in neurofibromatosis 1 (NF1).

BACKGROUND: Neurofibromatosis 1 (NF1) is a common, autosomal dominant, neurocutaneous disease that is clinically and genetically distinct from the rare condition neurofibromatosis 2 (NF2). Neurofibromatous neuropathy has been regarded as a common feature of NF2, but is an unusual and unexplained complication of NF1. The clinical and histological features of the NF1 neuropathy are distinct from those encountered in NF2. We describe eight patients with a symmetrical polyneuropathy, which has been called neurofibromatous neuropathy. METHODS: Clinical assessments, laboratory investigations, neuroimaging, and neurophysiology were undertaken in eight individuals with neurofibromatous neuropathy. None were referred because of neuropathic symptoms. Two subjects underwent sural nerve biopsy and three agreed to mutational analysis. RESULTS: The patients had an indolent symmetrical predominantly sensory axonal neuropathy and unusually early development of large numbers of neurofibromas. The biopsied nerves showed diffuse neurofibromatous change and disruption of the perineurium. Two patients developed a high grade malignant peripheral nerve sheath tumour. Disease causing mutations were detected in two individuals and molecular studies did not reveal any whole gene deletions. CONCLUSIONS: Neurofibromatous neuropathy occurred in 1.3% of 600 patients with NF1. Its cause may be a diffuse neuropathic process arising from inappropriate signalling between Schwann cells, fibroblasts, and perineurial cells.

Adult↗
PubMed1986

Linkage analysis of peripheral neurofibromatosis (Von Recklinghausen disease) and chromosome 19 markers linked to myotonic dystrophy.

Three chromosome 19 markers known to be linked to myotonic dystrophy have been studied in nine families with peripheral neurofibromatosis (Von Recklinghausen's disease). Clear evidence against linkage has been found for all three markers, excluding the peripheral neurofibromatosis gene from the myotonic dystrophy region of chromosome 19. Previous reports of co-inheritance of the two disorders in families cannot therefore be explained on the basis of close genetic linkage between the loci.

Adult↗
PubMed1987

DNA linkage analysis in Von Recklinghausen neurofibromatosis.

We have used DNA linkage analysis in 11 families with Von Recklinghausen neurofibromatosis (VRNF) in order to search for the chromosomal localisation of the defective gene causing this serious neurological disorder. Three groups of polymorphic DNA markers were used: (1) markers for chromosome 22, because of possible allelic genetic heterogeneity between VRNF and bilateral acoustic neurofibromatosis; (2) markers near the centromere of chromosome 4, since there was preliminary evidence for linkage between the VRNF gene and Gc; and (3) oncogenes and growth factors as possible candidate genes for VRNF. Our data exclude close linkage between any of these markers and the gene for VRNF.

DNA↗
PubMed1991

Watson syndrome: is it a subtype of type 1 neurofibromatosis?

Over 20 years ago, Watson described three families with a condition characterised by pulmonary valvular stenosis, café au lait patches, and dull intelligence. Short stature is an additional feature of this autosomal dominant condition. A fourth family with Watson syndrome has since been reported. We have had the opportunity to review members of three of these four families. The clinical phenotype of Watson syndrome has been expanded to include relative macrocephaly and Lisch nodules in the majority of affected subjects, and neurofibromas in one-third of family members. Because the additional clinical findings enhance the similarity between Watson syndrome and neurofibromatosis 1, molecular linkage studies have been performed using probes flanking the NF1 gene on chromosome 17. Probe HHH202 showed the tightest linkage to Watson syndrome with a maximum lod score of 3.59 at phi = 0.0 (95% confidence limits of phi = 0.0-0.15). This suggests either that Watson syndrome and neurofibromatosis 1 are allelic, or that there is a series of contiguous genes for pulmonary stenosis, neurocutaneous anomalies, short stature, and mental retardation on 17q.

Chromosomes, Human, Pair 17↗
PubMed2000

Neurofibromatosis type 2.

Neurofibromatosis type 2 is an often devastating autosomal dominant disorder which, until relatively recently, was confused with its more common namesake neurofibromatosis type 1. Subjects who inherit a mutated allele of the NF2 gene inevitably develop schwannomas, affecting particularly the superior vestibular branch of the 8th cranial nerve, usually bilaterally. Meningiomas and other benign central nervous system tumours such as ependymomas are other common features. Much of the morbidity from these tumours results from their treatment. It is now possible to identify the NF2 mutation in most families, although about 20% of apparently sporadic cases are actually mosaic for their mutation. As a classical tumour suppressor, inactivation of the NF2 gene product, merlin/schwannomin, leads to the development of both NF2 associated and sporadic tumours. Merlin/schwannomin associates with proteins at the cell cytoskeleton near the plasma membrane and it inhibits cell proliferation, adhesion, and migration.

Humans↗
PubMed2000

Growth in North American white children with neurofibromatosis 1 (NF1).

OBJECTIVE: To analyse the distributions of and generate growth charts for stature and occipitofrontal circumference (OFC) in neurofibromatosis 1 (NF1) patients. DESIGN: Cross sectional database survey. SETTING: The National Neurofibromatosis Foundation International Database (NFDB) includes clinical information on NF1 patients from 14 participating centres in North America. SUBJECTS: A total of 569 white, North American, NF1 patients, 55% female and 45% male. MAIN OUTCOME MEASURES: Stature and OFC measurements of NF1 patients were compared to age and sex matched population norms using z score standardisation and centile curves. RESULTS: The distributions of stature and OFC are shifted and unimodal among NF1 patients; 13% of patients have short stature (>/=2 standard deviations below the population mean) and 24% have macrocephaly (OFC >/=2 standard deviations above the population mean). CONCLUSIONS: Alterations of stature and OFC are not limited to NF1 patients with frank short stature or macrocephaly.

Adolescent↗
PubMed1992

A case of neurofibromatosis 2 presenting with a mononeuritis multiplex.

A patient with neurofibromatosis 2 had an asymmetrical peripheral neuropathy. A nerve biopsy specimen revealed neurofibromatous changes, and the neuropathy may have been a direct consequence of neurofibromatosis. An apparent clinical response to immunosuppressive treatment and plasma exchange is also reported.

Adult↗
PubMed2000

Detailed analysis of the oligodendrocyte myelin glycoprotein gene in four patients with neurofibromatosis 1 and primary progressive multiple sclerosis.

Neurofibromatosis 1 (NF1) is a common autosomal disorder with a wide range of neurological manifestations. The case histories of five patients, including two siblings, are reported who have both neurofibromatosis 1 and primary progressive multiple sclerosis (PPMS). A further patient with both NF1 and PPMS has since been identified. More recently, a systematic clinical review of 138 unselected adult patients with NF1 identified one patient with a slowly progressive spastic paraparesis and multiple high signal hyperintensities on T2 weighted MRI. Molecular genetic studies suggest a mechanism by which the clinical association of progressive white matter disease and NF1 might arise. The gene for NF1 is located on chromosome 17q, spans 350 kb of genomic DNA, and contains 60 exons. The gene for oligodendrocyte myelin glycoprotein (OMgp) is embedded within intron 27b of the NF1 gene. OMgp is a membrane glycoprotein that appears in the human CNS at the time of myelination. It can be detected immunohistochemically on CNS myelin and on the surface of cultured oligodendrocytes. Structurally, OMgp has the potential to function as an adhesion molecule and could contribute to the interactions between the plasma membranes of oligodendrocytes and axons required for myelination and/or axon survival. This study considers the specific hypothesis that PPMS in patients with NF1 results from concurrent mutation of the OMgp gene. The OMgp genes of four unrelated patients with NF1 and PPMS were examined using a combination of Southern blot, dosage polymerase chain reaction, and chemical cleavage of mismatch. The entire OMgp coding sequence, all intronic sequence, the intron-exon boundaries, and 1 kb of flanking sequence were screened. The DNA from two patients was found to contain an alteration in the OMgp gene resulting in an amino acid change of glycine to aspartic acid at codon 21. It is concluded that PPMS in patients with NF1 can occur without concurrent mutation of the OMgp gene. The glycine to aspartic acid polymorphic alteration at codon 21 is neither sufficient nor necessary for the development of PPMS.

Adult↗