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PubMed2006

Guidelines for the diagnosis and management of individuals with neurofibromatosis 1.

Neurofibromatosis 1 (NF1) is a common neurocutaneous condition with an autosomal dominant pattern of inheritance. The complications are diverse and disease expression varies, even within families. Progress in molecular biology and neuroimaging and the development of mouse models have helped to elucidate the aetiology of NF1 and its clinical manifestations. Furthermore, these advances have raised the prospect of therapeutic intervention for this complex and distressing disease. Members of the United Kingdom Neurofibromatosis Association Clinical Advisory Board collaborated to produce a consensus statement on the current guidelines for diagnosis and management of NF1. The proposals are based on published clinical studies and on the pooled knowledge of experts in neurofibromatosis with experience of providing multidisciplinary clinical and molecular services for NF1 patients. The consensus statement discusses the diagnostic criteria, major differential diagnoses, clinical manifestations and the present strategies for monitoring and management of NF1 complications.

Child↗
PubMed1995

Psychological aspects of von Recklinghausen neurofibromatosis (NF1)

Neurofibromatosis is a devasting autosomal dominant disease which is extremely variable in its symptomatology, intensity, and progression. There have been numerous reports published about the physical aspects of neurofibromatosis, while psychological issues have been given little attention so far. The present article presents a review of the current knowledge concerning psychological aspects of neurofibromatosis. Information is provided relating to physical appearance, intellectual impairment, neuropsychological findings, learning disability, and psychiatric disorders.

Biological Psychiatry↗
PubMed1986

Intracranial calcified deposits in neurofibromatosis.

Three patients with the central type of neurofibromatosis, who on CT showed multiple subependymal calcified deposits, are presented. The literature on intracranial non-tumourous calcifications in neurofibromatosis is briefly reviewed. On the basis of our findings and the literature, it is proposed that such intracranial calcified deposits may be part of the neurofibromatosis syndrome and are caused by calcium deposits in glial proliferations, analogous to the calcified deposits seen in tuberous sclerosis.

Adolescent↗
PubMed1995

Neurofibromatosis 1 and multiple sclerosis.

Neurofibromatosis 1 is a common autosomal dominant disease that principally involves the skin and peripheral nervous system. The gene for the disorder has been located on chromosome 17q11.2 and there are three embedded genes within the neurofibrosis gene. One of these genes codes for oligodendrocyte-myelin glycoprotein, is found in the CNS during myelination, and may have a role in myelin formation. The case histories of five patients, including two siblings, who have both neurofibromatosis 1 and multiple sclerosis are reported. All five had the primary progressive form of multiple sclerosis, which forms only 15% of multiple sclerosis in population surveys. The coincidence of neurofibromatosis 1 and multiple sclerosis might be due to a mutation in the embedded oligodendrocyte-myelin glycoprotein gene.

Adult↗
PubMed1995

Neurofibromatosis type 1 in childhood: correlation of MRI findings with intelligence.

In a group of 28 children with neurofibromatosis type 1 aged between 4 and 16 years, neuroradiological findings were correlated with intelligence as measured by the Wechsler scales. The presence or specific location in the brain of T2 weighted prolonged signals on MRI was not associated with cognitive problems. No other physical characteristics associated with neurofibromatosis type 1 were found to correlate significantly with IQ. At the present these T2 weighted hyper-intense spots should not be used to predict neurofibromatosis type 1 associated cognitive problems.

Analysis of Variance↗
PubMed1997

Spinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis: a clinical and molecular study.

OBJECTIVE: To delineate the clinical phenotype, molecular basis, and implications for screening in patients and families with multiple schwannomas not generally involving the cranium. METHODS: As part of a United Kingdom clinical and genetic study of type 2 neurofibromatosis (NF2) patients and families with multiple schwannomas who do not fulfil diagnostic criteria for NF2 have been identified. The clinical phenotype was studied in the extended families and molecular analysis was carried out at the NF2 gene locus on chromosome 22. RESULTS: Patterns of inheritance in five families with schwannomatosis are consistent with inheritance of an autosomal dominant gene. The consistency of phenotype, with relative sparing of the cranium, is constant in these families. However, families which initially seem to be indicative of schwannomatosis may develop into classic NF2 as shown by a sixth family. Many of the tumours found in these families were referred to as "neurofibroma" when they were clearly schwannomas. This difference in classification has major implications for the relative risk of each particular type of neurofibromatosis and neuropathological review may be important in some cases. Genetic linkage analysis in the two largest families is entirely consistent with primary involvement of the NF2 gene. CONCLUSIONS: Variant forms of neurofibromatosis have presented a dilemma in classification and determination of recurrence risks in families. Previous reports have suggested that schwannomatosis is a sporadic non-hereditary condition. Patients with multiple schwannomas are likely to have a variant form of NF2 and up to a 50% risk of passing on a gene predisposing to multiple schwannoma.

Adolescent↗
PubMed1987

Spinal and paraspinal neurofibromatosis: surface coil MR imaging at 1.5 T1.

Twelve patients with neurofibromatosis affecting the spine and paraspinal regions were examined with magnetic resonance (MR) imaging performed using a 1.5-T magnet, surface coils, and spin-echo pulse sequences. In all 11 patients with neurofibromas, these tumors had slightly greater signal intensity than muscle on T1-weighted images and markedly increased signal intensity on T2-weighted images. In seven patients central areas of decreased signal intensity within the neurofibromas were demonstrated on T2-weighted images. In one patient these central areas corresponded pathologically to relatively fibrous components of the tumors surrounded by myxoid matrix. Five patients had extensive plexiform neurofibromatosis, one had lateral meningoceles, one had a neurofibrosarcoma, three had extradural spinal cord compression, and two had cystic intramedullary tumors of the spinal cord. The ability to obtain high-resolution, multiplanar images in a noninvasive fashion makes surface coil MR imaging an ideal technique for evaluating neurofibromatosis involving the spinal cord, spinal canal, and paraspinal soft tissues.

Humans↗
PubMed1989

Neurofibromatosis types 1 and 2: cranial MR findings.

Neurofibromatosis 1 (NF-1) (von Rekhlinghausen disease) and neurofibromatosis 2 (NF-2) (bilateral acoustic neurofibromatosis) have been recently recognized to be distinct disorders through genetic linkages. The authors compared the cranial magnetic resonance (MR) images of 53 patients with NF-1 and 11 with NF-2. In the NF-1 group, MR imaging revealed 19 patients with optic gliomas and eight with parenchymal gliomas. In 32 patients, foci of prolonged T2, similar to those reported previously as hamartomas, were identified in the cerebellar peduncles, globus pallidus, midbrain, and other locations. The frequency of these foci was related to both age and the presence of optic gliomas. In the NF-2 group, MR imaging revealed eight patients with cranial nerve schwannomas and six with meningiomas (in addition to acoustic schwannomas in all 11). These findings demonstrate that NF-1 and NF-2 are different diseases requiring different imaging protocols. NF-1 seems to be associated with tumors of astrocytes and neurons and NF-2 with tumors of meninges and Schwann cells.

Adolescent↗
PubMed1987

Are Lisch nodules an ocular marker of the neurofibromatosis gene in otherwise unaffected family members?

A male patient with classical neurofibromatosis is reported. Examination of the other family members revealed 2 patients with solitary cutaneous neurofibromas and 2 with one or more Lisch nodules without other cutaneous or systemic signs of neurofibromatosis. This suggests that Lisch nodules can be a marker for the neurofibromatosis gene in otherwise unaffected family members.

Adult↗
PubMedDate not supplied

Gliosarcoma associated with neurofibromatosis type I: a case report.

Neurofibromatosis type I (NF I) is the most common hereditary syndrome predisposing to neoplasia. We report the third case in the literature, documenting the combination of gliosarcoma with NF I. The patient's son was known at our center because of a history of pleomorphic xanthoastrocytoma (PXA) with NF I. A 48-year-old man who had a number of café-au-lait spots with neurofibroma since birth presented with severe headache. Neuroradiological studies revealed a cystic tumor of the right temporal lobe of high grade nature. Surgical excision was performed and the tumor was found to be located on the surface of the temporoparietal area with cystic formation and vascular and infiltrative features. Postoperative MRI Key words: gliosarcoma, neurofibromatosis I, temporal lobe. showed no detectable contrast enhancing tissue. Immunohistochemical examination evidenced the characteristics of typical gliosarcoma. The patient received radiation therapy but five months following surgery recurrence of the tumor was diagnosed. Reoperation was performed and histopathological studies confirmed the diagnosis of gliosarcoma. We believe that the neurofibromatosis was inherited by the son with PXA from the father with gliosarcoma. The rarity of the combined occurrence of gliosarcoma and NF I, in addition to this uncommon family history, makes this case remarkable. Our findings suggest that NF I is a multifaceted disease associated with benign as well as malignant astrocytic tumors.

Brain Neoplasms↗
PubMed2002

Neurofibromatosis 1: clinical manifestations and diagnostic criteria.

Neurofibromatosis 1 occurs in 2 to 3 people per 10,000. The most frequent clinical features are café-au-lait macules, neurofibromas, intertriginous freckling, Lisch nodules, and learning disabilities, but optic and other gliomas, malignant peripheral nerve sheath tumors, and characteristic osseous lesions also can be present. Two striking aspects of neurofibromatosis 1 are its progressive nature and its extreme variability. This article reviews the natural history and some important clinical manifestations of neurofibromatosis 1, with emphasis on features that constitute the standard diagnostic criteria. The pathogenic implications of these clinical manifestations are also considered.

Adolescent↗
PubMed2002

Cognitive deficits in neurofibromatosis 1.

Cognitive deficits and academic learning difficulties are the most common neurologic "complication" of neurofibromatosis 1 in childhood and can be responsible for significant lifetime morbidity. There is a slight increase in the frequency of mental retardation (Wechsler Full-Scale IQ < 70) in children with neurofibromatosis 1, but the mean Full-Scale IQ for the patient group is within 1 SD of the population mean. Academic difficulties are common, as are specific deficits in visuospatial ability, executive function, expressive and receptive language, and attentional skills. Behavioral and psychosocial problems have a major impact on quality of life, although there are few objective studies in this area Current research is focusing on the pathogenesis of the disorder. Clinical studies have identified possible radiologic and pathologic markers for cognitive deficits in neurofibromatosis 1, which can now be explored in animal models.

Brain↗
PubMed2002

Neurofibromatosis 1: clinical review and exceptions to the rules.

Neurofibromatosis 1 is an autosomal dominant, multisystem disorder with myriad clinical manifestations. Between 1991 and 1998, 495 adults and children were diagnosed with neurofibromatosis 1 at a specialized neurogenetics clinic in Sydney, Australia. This review establishes the prevalence of the clinical manifestations of neurofibromatosis 1 in these patients and provides guidelines for assessment and management. In addition, we review in detail patients who had unusual presentations and who represent important "exceptions to the rules" of clinical practice.

Adolescent↗
PubMed2004

Familial segmental neurofibromatosis.

Segmental neurofibromatosis is considered to be the result of postzygotic NF1 gene mutations. We present a family in which the proband has generalized neurofibromatosis 1, whereas members of previous generations manifest segmental skin lesions. All, including the clinically asymptomatic grandmother, carry the same haplotype. This is the only case in the literature in which a parent with segmental skin findings has a child with full-blown neurofibromatosis 1 disease. The genetic mechanisms underlying this association are discussed. This family can be further investigated by examination of tissue samples from affected and unaffected sites for mutations.

Brain Neoplasms↗
PubMed1999

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.

Child, Preschool↗
PubMed2005

Zollinger-Ellison syndrome associated with neurofibromatosis type 1: a case report.

BACKGROUND: Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder with characteristic features of skin and central nervous system involvement. Gastrointestinal involvement is rare, but the risk of malignancy development is considerable. Zollinger-Ellison syndrome is caused by gastrin-secreting tumors called gastrinomas. Correct diagnosis is often difficult, and curative treatment can only be achieved surgically. CASE PRESENTATION: A 41-year-old female affected by neurofibromatosis type 1 presented with a history of recurrent epigastric soreness, diarrhea, and relapsing chronic duodenal ulcer. Her serum fasting gastrin level was over 1000 pg/mL. An abdominal CT scan revealed a 3 x 2-cm, well-enhanced mass adjacent to the duodenal loop. She was not associated with multiple endocrine neoplasia type 1. Operative resection was performed and gastrinoma was diagnosed by immunohistochemical staining. The serum gastrin level decreased to 99.1 pg/mL after surgery, and symptoms and endoscopic findings completely resolved without recurrences. CONCLUSION: Gastrinoma is difficult to detect even in the general population, and hence symptoms such as recurrent idiopathic peptic ulcer and diarrhea in neurofibromatosis type 1 patients should be accounted for as possibly contributing to Zollinger-Ellison syndrome.

Adult↗
PubMed1981

Peripheral neurofibromatosis and peroneal muscular atrophy.

We studied four patients with peripheral neurofibromatosis and a neuropathy that had the clinical characteristics of peroneal muscular atrophy. Nerve conduction velocities were slowed by less than 40% of normal, and electromyography demonstrated denervation. Sural nerve biopsies from two patients, which were macroscopically free of nerve sheath tumors, were studied by recording the compound action potentials in vitro and by morphometry. These studies demonstrated a chronic axonal neuropathy with reactive Schwann cell changes. Peroneal muscular atrophy in association with neurofibromatosis may be due to progressive neuronal degeneration and may represent another, uncommon manifestation of peripheral neurofibromatosis.

Action Potentials↗
PubMed1986

Neurofibromatosis presenting with aqueductal stenosis due to a tumor of the aqueduct: case report.

A 17-year-old boy with neurofibromatosis presented with delayed puberty and epileptic seizures of recent onset. A computed tomographic scan revealed aqueductal stenosis due to a tumor of the aqueduct. This tumor was found at autopsy to be a pilocytic astrocytoma. Aqueductal stenosis in neurofibromatosis is uncommon and has been considered to be a result of periaqueductal gliosis. This seems to be the first report of neurofibromatosis associated with a tumor of the aqueduct.

Adolescent↗