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PubMed2002

Determination of end points for treatment of neurofibromatosis 1.

Neurofibromatosis 1 is a progressive disorder that affects multiple systems of the body. Management is currently focused on anticipatory guidance, genetic counseling, and symptomatic treatment of specific lesions, usually through surgery. Insights into pathogenesis of the disorder are beginning to suggest possible mechanisms of treatment, and clinical trials have begun for some types of lesions. The unpredictable natural history and variable phenotype present challenges for clinical trials in neurofibromatosis 1, which will need to be addressed to develop a system for reliable testing of potential therapies.

Child↗
PubMed2004

T2-weighted hyperintensities (unidentified bright objects) in children with neurofibromatosis 1: their impact on cognitive function.

The impact of magnetic resonance imaging (MRI)-identified T2-weighted hyperintensities (unidentified bright objects) on the cognitive function of children with neurofibromatosis 1 is controversial. We recruited 32 right-handed children with neurofibromatosis 1 (22 boys, 10 girls) aged between 5 and 16 years (mean age 10.2 years) for magnetic resonance imaging examinations and neuropsychologic evaluation. Statistical analysis was performed to evaluate the significance of the hyperintensities. Twenty-four children had unidentified bright objects, whereas eight children did not. Using the t-test, thalamic lesions were associated with lower intellectual function (P = .031). Left globus pallidus hyperintensities were associated with a lower attention score (P = .04), and right middle cerebellar peduncle hyperintensities were associated with a lower sensorimotor score (P = .05). The size of the thalamic lesions correlated with cognitive function (P < .05). Among the group with unidentified bright objects, there was a significant association between more involved sites on the dominant hemisphere and impaired verbal function (r = -.55; P = .005). Unidentified bright objects in the thalamus, globus pallidus, and middle cerebellar peduncles and the laterality of the lesions had an impact on cognitive function.

Adolescent↗
PubMed2006

Somatic deletion of the NF1 gene in a neurofibromatosis type 1-associated malignant melanoma demonstrated by digital PCR.

BACKGROUND: Neurofibromatosis type 1 (NF1) is the most common hereditary neurocutaneous disorder and it is associated with an elevated risk for malignant tumors of tissues derived from neural crest cells. The NF1 gene is considered a tumor suppressor gene and inactivation of both copies can be found in NF1-associated benign and malignant tumors. Melanocytes also derive from neural crest cells but melanoma incidence is not markedly elevated in NF1. In this study we could analyze a typical superficial spreading melanoma of a 15-year-old boy with NF1 for loss of heterozygosity (LOH) within the NF1 gene. Neurofibromatosis in this patient was transmitted by the boy's farther who carried the mutation NF1 c. 5546 G/A. RESULTS: Melanoma cells were isolated from formalin-fixed tissue by liquid coverslip laser microdissection. In order to obtain statistically significant LOH data, digital PCR was performed at the intragenic microsatellite IVS27AC28 with DNA of approx. 3500 melanoma cells. Digital PCR detected 23 paternal alleles and one maternal allele. Statistical analysis by SPRT confirmed significance of the maternal allele loss. CONCLUSION: To our knowledge, this is the first molecular evidence of inactivation of both copies of the NF1 gene in a typical superficial spreading melanoma of a patient with NF1. The classical double-hit inactivation of the NF1 gene suggests that the NF1 genetic background promoted melanoma genesis in this patient.

Adolescent↗
PubMed2002

Evaluation of clinical diagnostic criteria for neurofibromatosis 2.

BACKGROUND: Four sets of clinical diagnostic criteria for neurofibromatosis 2 (NF2) have been developed by groups of expert clinicians, but sensitivity has never been formally assessed. The sets of criteria differ for people without bilateral vestibular schwannomas, which are pathognomonic for NF2. OBJECTIVE: To empirically evaluate the four existing sets of clinical diagnostic criteria for NF2. METHODS: The study was based on 163 of 403 people in the United Kingdom NF2 registry (41%) who presented without bilateral vestibular schwannomas. The authors applied the sets of criteria to each person at initial assessment and at the most recent clinical evaluation (mean +/- SE length of follow-up, 13 +/- 1 years). RESULTS: In people with "definite NF2" and a negative family history of NF2, the 1987 US NIH and 1991 NIH criteria each identify 78% of people at the most recent clinical evaluation but 0% at initial assessment. The National Neurofibromatosis Foundation (NNFF) criteria and the Manchester criteria each identify higher proportions at both time points (NNFF criteria, 91% and 10%; Manchester criteria, 93% and 14%), but the proportions at initial assessment are still low. CONCLUSIONS: None of the existing sets of criteria are adequate at initial assessment for diagnosing people who present without bilateral vestibular schwannomas as having NF2, particularly people with a negative family history of NF2. The authors recommend that a single, revised set of diagnostic criteria be devised to replace all of the existing sets of criteria.

Adolescent↗
PubMed2005

The nature and frequency of cognitive deficits in children with neurofibromatosis type 1.

OBJECTIVE: To assess the frequency and severity of specific cognitive deficits in children with neurofibromatosis type 1 (NF1) in a large unbiased cohort. METHODS: Extensive cognitive assessments were performed in 81 children with NF1 ages 8 to 16 years and their performance was compared with that of 49 unaffected sibling controls. RESULTS: Eighty-one percent of the children with NF1 had moderate to severe impairment in one or more areas of cognitive functioning. Although 51% of children with NF1 performed poorly on tasks of reading, spelling, and mathematics, specific learning disabilities (as defined by IQ-achievement discrepancies) were present in only 20% of the children. Sustained attention difficulties were present in 63% of children with NF1, with 38% of children with NF1 fulfilling the diagnostic criteria for attention deficit-hyperactivity disorder. The NF1 neuropsychological profile is characterized by deficits in perceptual skills (visuospatial and visuoperceptual), executive functioning (planning and abstract concept formation), and attention (sustained and switching). Interestingly, both verbal and visual memory was unaffected in NF1 children, and their memory skills were in general stronger than their level of general intellectual function. Although both expressive and receptive language skills were significantly impaired in NF1 children, they appeared to be relatively better preserved than visuospatial abilities once IQ is taken into account. CONCLUSION: There is an extremely high frequency of cognitive problems in children with neurofibromatosis type 1, making cognitive dysfunction the most common complication to affect quality of life in these children.

Adolescent↗
PubMed1980

Childhood hypertensive stroke with neurofibromatosis.

A child with neurofibromatosis had hypertension and acute hemiplegia resulting from both renal and cerebral vascular occlusive disease. This case illustrates the importance of recognizing surgical antihypertensive therapy was attempted, and may have contributed to rapid neurologic deterioration. Children with neurofibromatosis and hypertension require a careful neurologic evaluation, including computed tomography, before therapy.

Arterial Occlusive Diseases↗
PubMed2000

Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas.

OBJECTIVE: To estimate the incidence of meningiomatosis and schwannomatosis, and their familial occurrences and relation to type 2 neurofibromatosis (NF2) in a well-defined population. METHODS: Patients with histologically verified intracranial, spinal, or peripheral schwannomas or meningiomas, who were residents of the Helsinki University Hospital catchment area (population, 1,713,000) from January 1, 1985, to December 31, 1995, were included in the study. The Population Register Center was used to identify relatives of all the patients, and their data were linked further to the Finnish Cancer Registry to find NF2-related tumors. Detailed pedigrees were constructed for the patients with NF2, schwannomatosis, meningiomatosis, patients with relatives with histologically verified schwannomas or meningiomas, and patients younger than 25 years of age at the time of diagnosis. RESULTS: Approximately 3% (12 of 455) of the schwannoma patients had multiple schwannomas in association with NF2, and 2% (11 of 455) had schwannomatosis without NF2. Two of the patients with schwannomatosis (2 of 11) had familial schwannomatosis. Approximately 1% (7 of 823) of the patients with meningioma had multiple meningiomas in association with NF2, and 4% (29 of 823) had meningiomatosis without NF2. No families with meningiomatosis were found among the 823 patients with meningioma studied. The birth occurrence of NF2 was 1 in 87,410. CONCLUSIONS: The current diagnostic criteria of type 2 neurofibromatosis (NF2) seem valid because NF2 patients were differentiated rather easily from patients with sporadic schwannomatosis and meningiomatosis. Familial meningiomatosis, if it truly exists, is very rare, and familial schwannomatosis is uncommon.

Adult↗
PubMed1993

Neurofibromatosis 2 in the pediatric age group.

Bilateral acoustic neurofibromatosis or neurofibromatosis 2 (NF2) is an autosomal dominant disease predisposing to the formation of multiple tumors in the central and peripheral nervous system. Vestibular schwannomas (VSs) are considered to be the hallmark of the disease, but other tumors and ocular findings occur as well. In patients that do not carry the NF2 mutation, VSs usually occur in the fifth or sixth decade of life. VSs in patients with NF2 are often bilateral and become symptomatic in the third or fourth decade of life. In order to define the early manifestations of NF2, we examined nine children who either had one parent with NF2 or had multiple skin or spinal tumors suggestive of NF2. In addition to neurological, dermatological, and ocular examinations, all patients were studied by gadolinium-enhanced magnetic resonance imaging of the brain and spine. None of the children exhibited symptoms or signs due to VSs. However, VSs were detected during the neuroradiological work-up in six children. Seven children developed symptoms or signs due to skin or spinal tumors. Slit lamp examination detected cataracts in four patients as young as 10 years of age. The diagnosis of NF2 in the pediatric age group requires a high degree of suspicion and should be considered in children with multiple central nervous system or skin tumors without cafe-au-lait spots or Lisch nodules. Because VSs are unlikely to produce the signs seen at the time of admission, careful examination of the skin and eyes is necessary and should be followed by gadolinium-enhanced magnetic resonance imaging of the brain and spine. First-degree relatives need to be examined as well.

Adolescent↗
PubMed1995

Absence of the greater sphenoid wing in neurofibromatosis type I: congenital or acquired: case report.

unilateral absence of the greater wing of the sphenoid bone is a distinctive but uncommon manifestation of Type I neurofibromatosis, which has until now been regarded as a developmental anomaly of mesodermal origin. A computed tomographic scan was obtained in a 4-week-old infant with an abnormal left eye. The scan demonstrated an intact ipsilateral sphenoid bone, except for minor expansion of the medial end of the left superior orbital fissure. Another computed tomographic scan was obtained 6 years later, when the child had café-au-lait patches, axillary freckling, Lisch nodules, and left phthisis bulbi. This later scan showed typical sphenoid dysplasia. Much of the greater wing was absent, and the anterior temporal pole was displaced anteriorly. In this article, we discuss the implications of this case in terms of the cause of this condition and the diagnosis of Type I neurofibromatosis.

Eye Abnormalities↗
PubMed2001

MRI and clinical differences between optic pathway tumours in children with and without neurofibromatosis.

The purpose of this study was to evaluate the value of MRI in studying optic pathway tumours associated with neurofibromatosis, and to look for potentially helpful criteria for the management of such lesions. This retrospective study included 14 children with neurofibromatosis type 1 (NF-1) as well as a lesion of the optic pathway. Clinical data and MRI findings were analysed with regard to location, structure and course of the tumours, and were compared with 13 optic pathway tumours in patients without NF-1. The median age of onset was 4.1 years. 11 patients with NF-1 were asymptomatic. In the NF-1 group, the optic nerves were involved in 10 cases without a cystic component at the time of diagnosis. In the non-NF-1 group, the tumour was located in the chiasma in 11 cases; 12 cases had a cystic component. 10 of the NF-1 group had no tumour progression over an average follow-up of 3.2 years without treatment. These findings suggest that optic astrocytomas in association with NF-1 are distinct lesions from isolated optic gliomas. In NF-1, most such tumours show only slight progression, and may correspond to perineural gliomatosis rather than a true pilocytic astrocytoma. Among NF-1 patients, initial MRI provides no prognostic criteria in children who subsequently show tumour progression. Nevertheless, MRI can be useful in establishing the diagnosis of NF-1 and can serve as a baseline study.

Age of Onset↗
PubMed1986

Head and neck manifestations of neurofibromatosis.

Neurofibromatosis is a neurocutaneous systemic disease that occurs in 1:2500 to 3300 live births. Prevalence figures have shown it to be as common as cystic fibrosis or Down's syndrome and more than twice as common as muscular dystrophy. In this study, our experience with 257 cases of neurofibromatosis seen since 1972 is reviewed. Intracranial, bony, and extracranial anomalies are described in the 223 patients (87%) who presented with, or ultimately developed, head and neck manifestations of the disease. The most common intracranial tumor was optic glioma, found in 35 patients (14%), 19 younger than 10 years of age. Acoustic neuromas were diagnosed in eight individuals (3%) and were bilateral in three. The most common skull anomaly was macrocephaly, noted 78 times (30%). Absence of the sphenoid wing occurred in 11 patients (4%) and 19 others (7%) had facial asymmetry due to other skull abnormalities. Extracranial manifestations included neurofibromas of the plexiform and nonplexiform type, Lisch nodules, and cafe-au-lait spots.

Adolescent↗
PubMed1984

Dystrophic spinal deformities in neurofibromatosis. Treatment by anterior and posterior fusion.

Thirteen patients with dystrophic spinal deformities from neurofibromatosis treated by anterior and posterior fusion have been reviewed. The shortest follow-up was five years, the average seven years. Combined fusion produced satisfactory results in patients with a smooth kyphoscoliosis or with scoliosis without kyphosis, but it was unsatisfactory in patients with an angular kyphoscoliosis. Of the five patients with angular kyphoscoliosis, one had a persistent pseudarthrosis after operation and all had progression of the kyphosis despite the treatment. The morbidity rate also was high in this group of patients. Many of the complications were related to soft-tissue manifestations of the disease. It is recommended that very special attention be paid to the dystrophic angular deformity in neurofibromatosis; even anterior and posterior spinal fusion may fail to control its progression.

Adolescent↗
PubMed1989

Scoliosis in neurofibromatosis. The natural history with and without operation.

We reviewed 47 patients with neurofibromatosis and dystrophic spinal deformities; 32 of these patients had been untreated for an average of 3.6 years and in them the natural history was studied. The commonest pattern of deformity at the time of presentation was a short angular thoracic scoliosis, but with progression the angle of kyphosis also increased. Deterioration during childhood was usual but its rate was variable. Severe dystrophic changes in the apical vertebrae and in particular anterior scalloping have a poor prognosis for deterioration. The dystrophic spinal deformity of neurofibromatosis requires early surgical stabilisation which should be by combined anterior and posterior fusion if there is an abnormal angle of kyphosis or severely dystrophic apical vertebrae. Some carefully selected patients can be treated by posterior fusion and instrumentation alone.

Adolescent↗
PubMed1988

Neurofibromatosis: review and report of case.

Neurofibromatosis, or von Recklinghausen's disease, is the result of a genetic mutation affecting more than 80,000 persons in the United States. Also known as the "Elephant Man" disease, it is marked by multiple pedunculated soft tumors distributed over the entire body associated with areas of pigmentation. This article discusses various aspects of the disease, and presents a report of classical neurofibromatosis.

Aged↗
PubMed2000

Hypothalamic hamartoma as a cause of precocious puberty in neurofibromatosis type 1: patient report.

Precocious puberty resulting from hypothalamic hamartoma is well known. Neurofibromatosis type 1 can also present with precocious puberty. However, hypothalamic hamartoma as the cause of precocious puberty in patients with neurofibromatosis type 1 has never been described in the literature. This rare occurrence of these two together in a patient with precocious puberty is reported.

Adult↗
PubMed1997

Endocrinologic disorders and optic pathway gliomas in children with neurofibromatosis type 1.

OBJECTIVE: To establish the prevalence of endocrinologic disorders in children with neurofibromatosis type 1 (NF1) and the relationship between these disorders and cerebral abnormalities on magnetic resonance imaging. DESIGN: A prospective follow-up study. Setting. A multidisciplinary neurofibromatosis clinic. PATIENTS: A total of 122 children diagnosed with NF1 according to diagnostic criteria set by the National Institutes of Health. RESULTS: Central precocious puberty (CPP) was diagnosed in 3 children and growth hormone deficiency (GHD) in 3 children. Optic pathway gliomas were observed in 15 children; in 9 of the 15 cases, the optic chiasm was involved. Of the 3 children with CPP, only 1 showed a chiasma glioma on magnetic resonance imaging. In 1 case with GHD, an optic chiasm glioma was detected on neuroimaging. Two of the 9 children with an optic chiasm glioma presented with CPP or GHD. CONCLUSIONS: It has been suggested that CPP in children with NF1 is found exclusively in the presence of a chiasma glioma. We conclude that chiasma glioma may not be obligatory in children with NF1 and CPP or GHD. Moreover, we report a prevalence of GHD in children with NF1 of 2.5%, which has not been established earlier.

Brain↗
PubMed2000

Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children.

OBJECTIVE: The National Institutes of Health (NIH) Diagnostic Criteria for neurofibromatosis 1 (NF1) are very useful clinically, but some individuals who are later shown to have NF1 cannot be diagnosed in early childhood using these criteria. The aim of this study is to determine the value of the NIH Diagnostic Criteria for NF1 in early childhood, to determine the age at which diagnosis can confidently be made, and to clarify the age at onset of the cardinal clinical features used in the NIH Diagnostic Criteria. METHODS: We studied 1893 NF1 patients under 21 years old from the National Neurofibromatosis Foundation International Database to determine the age at which the features included in the NIH Diagnostic Criteria appear. RESULTS: Approximately 46% of sporadic NF1 cases fail to meet the NIH Diagnostic Criteria by 1 year of age. Nearly all (97%; 95% confidence interval: 94-98) NF1 patients meet the criteria for diagnosis by 8 years old, and all do so by 20 years old. The usual order of appearance of the clinical features listed as NIH criteria is café-au-lait macules, axillary freckling, Lisch nodules, and neurofibromas. Symptomatic optic glioma is usually diagnosed by 3 years old, and characteristic osseous lesions are usually apparent within the first year of life. CONCLUSION: The diagnosis of NF1 cannot always be made in young children using the NIH Diagnostic Criteria. Modification of these criteria may be necessary for children under 8 years old.

Adolescent↗