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PubMed1988

Aqueductal stenosis and neurofibromatosis: a rare association.

Three cases with rare association of neurofibromatosis, hydrocephalus, and aqueductal stenosis seen at the University of Iowa during the past 20 years are presented. The literature on nontumoral hydrocephalus and aqueductal stenosis in neurofibromatosis is reviewed. Possible explanations for the association of aqueductal stenosis and neurofibromatosis are discussed. It is concluded that aqueductal stenosis, though not common, should nevertheless be considered in the differential diagnosis of hydrocephalus in neurofibromatosis.

Adolescent↗
PubMed1993

Neurofibromatosis type 1: review of the first 200 patients in an Australian clinic.

Neurofibromatosis type 1 is a common multisystem disorder, best managed in a multidisciplinary clinic. In 1991, the first Australian neurofibromatosis clinic was established at the Children's Hospital, Camperdown, and the clinical characteristics of the first 150 families are reviewed. Two hundred individuals were assessed; there was an equal sex distribution, and 55% of cases were sporadic. Advanced paternal age appeared to predispose to new mutations in the neurofibromatosis gene. Café-au-lait spots and axillary freckling were important to the diagnosis of neurofibromatosis type 1 during childhood, and neurofibromas and Lisch nodules, although often not appearing until after puberty, were present in almost all patients over 30 years of age. Short stature (27%), macrocephaly (43%), scoliosis (20.5%), and learning disabilities (45%) were common associated features. The prevalence of disease complications was similar to the major US and European studies.

Adolescent↗
PubMed1997

Positron emission tomography in children with neurofibromatosis-1.

Neurofibromatosis-1 is an autosomal dominant genetic disorder commonly associated with neuropsychological complications. Focal areas of high signal intensity on magnetic resonance imaging (MRI) scans occur commonly but have shown inconsistent correlation with neuropsychological problems. Positron emission tomography (PET) scans utilizing [18F]fluoro-2-deoxy-D-glucose and MRI studies were performed on 10 children with neurofibromatosis-1 and multiple focal areas of high signal intensity to evaluate the regional cerebral metabolic rate for glucose of these lesions and other central nervous system structures. Co-registered PET and MRI studies confirmed reduced glucose metabolism of large focal areas of high signal intensity. Visual inspection and semiquantitative analysis of PET images demonstrated thalamic hypometabolism and varying degrees of cortical inhomogeneity in all cases of neurofibromatosis-1 compared to normal controls. Although a primary defect of the thalamus or cerebral cortex has not been defined, the metabolic abnormalities of this study suggest a potential relationship between these structures and the neuropsychological dysfunctions noted in neurofibromatosis-1.

Adolescent↗
PubMedDate not supplied

Usefulness of systematic ophthalmologic investigations in neurofibromatosis 1: a cross-sectional study of 211 patients.

PURPOSE: To evaluate the usefulness of ophthalmologic examination for diagnosis and for detection of complications in adult patients with neurofibromatosis 1. METHODS: PATIENTS with at least one criterion of neurofibromatosis 1 (excluding ophthalmologic criteria) seen at a referral centre had a systematic ophthalmologic examination including best-corrected visual acuity, slit-lamp examination and dilated funduscopy. The ophthalmologist was unaware of all other anamnestic data. RESULTS PATIENTS: 211 patients with NF1 were included (mean age: 32 +/- 14 yr.). Ophthalmologic examination in neurofibromatosis 1 patients: Lisch nodules (n = 185) (87.7%); choroidal hamartomas (n = 61) (29%); enlarged corneal nerves (n = 1); 3 plexiform neurofibromas (n = 3); symptomatic optic pathway gliomas (n = 5). Diagnostic contribution of presence of Lisch nodules: 6 (3%) of 211 patients. Detection of complications: none. CONCLUSIONS: In adult patients with neurofibromatosis 1, the contribution of ophthalmologic examination to diagnosis and to the detection of complications is low. Ophthalmologic examination should be performed in patients for whom questioning and clinical examination failed to give evidence of NF1 or to determine the NF subtypes.

Adolescent↗
PubMed2006

Neurofibromatosis type 1: from presentation and diagnosis to vascular and endovascular therapy.

Neurofibromatosis type 1, also called von Recklinghausen's disease, is an autosomal dominant disorder linked to chromosome 17, characterized by growth impairment of the neural crest cells (ectoderm) manifested by multiple neural tumors, cutaneous pigmentations, and Lisch nodules. Disease phenotype develops with time, making its penetrance almost complete by 5 years of age. Compression of the gastro-intestinal, urinary, or pulmonary tracts by visceral neurofibromas may generate serious complications. Neurofibromatosis type 1 is remarkable for its association with occlusive (stenoses) or aneurysmal arterial disease affecting predominantly the renal arteries and less often the abdominal aorta (middle aortic syndrome), and mesenteric and peripheral arteries. Appraisal of existing literature reveals that timely vascular intervention by way of conventional surgery and/or endovascular therapy may provide patients with effective and durable treatment. The far greater propensity for malignant connective/soft-tissue neoplasms and vascular disease in neurofibromatosis type 1, amid potential complications from the gastro-intestinal, urinary, and pulmonary tracts, leads to a significantly increased morbidity and decreased life expectancy. Neurofibromatosis type 1, from presentation and diagnosis to its treatment, is reviewed, with emphasis on vascular disease and its management with open vascular surgery and endovascular therapy.

Aneurysm↗
PubMed1981

Short communication: neurofibromatosis fibroblasts: slow growth and abnormal morphology.

We hypothesized that skin fibroblasts from patients with neurofibromatosis (NF) may have abnormalities of growth in tissue culture to correlate with the clinical abnormalities of overgrowth and malignancy seen in this disease. Using five lines of NF cells, age- and passage-matched to normal controls, we found that NF fibroblasts grew more slowly and stopped growing at a lower population density than normal cells (P less than 0.0005). The same cells also incorporated [3H]thymidine at a lower rate than normal skin fibroblasts (9,330 +/- 3,240 versus 42,100 +/- 6,840; P less than 0.01). The addition of epidermal growth factor to the medium stimulated the growth of both the normal and the NF fibroblasts; however, the stimulation of the NF fibroblasts was inadequate to fully correct the slow growth rate (P less than 0.025). NF cells (N = 5) were found to be morphologically different from normal skin fibroblasts (N = 5) in culture by light microscopy. NF cells were larger (approximately 9 X 10(4) X 2 X 10(4) versus 2 X 10(4) X 2 X 10(4) A), pleomorphic, and failed to form confluent monolayers when growth ceased. Speculation These data indicate that there may be an underlying abnormality of growth regulation in neurofibromatosis. The slow growth of neurofibromatosis fibroblasts, and their diminished response to epidermal growth factor, provides a means for studying the growth abnormality of neurofibromatosis in tissue culture. In addition, the expression of this abnormality may serve as a marker for the disease.

Culture Techniques↗
PubMed1992

Segmental neurofibromatosis of the sciatic nerve: case report.

A case of rare segmental neurofibromatosis is presented. Multiple neurofibromas along the right sciatic nerve were found. Other typical manifestations of neurofibromatosis were absent. By microsurgical dissection, it was possible to remove the neurofibromas from the nerve trunks and to preserve all motor and sensory functions. Classification of the different neurofibromatosis types is briefly reviewed. The problems of resection of benign major nerve trunk tumors in neurofibromatosis are discussed.

Adult↗
PubMed2002

Schwannomatosis in a child--or early neurofibromatosis type 2.

A case of multiple cervical schwannomas in a five-year-old boy, without other evidence of neurofibromatosis type 2, is described. Schwannomatosis is a disorder characterized by the presence of multiple schwannomas in the absence of neurofibromatosis type 2 that has only been recognized in the last 15 years. The clinical and genetic features of neurofibromatosis types 1 and 2 and schwannomatosis are compared and contrasted. This patient with possible schwannomatosis is presented to illustrate the potential pitfalls of making this diagnosis in the paediatric age group and to increase awareness of the debate on whether this is a distinct entity or a form fruste of neurofibromatosis type 2.

Child, Preschool↗
PubMed1989

Neuroaudiologic abnormalities in patients with type 1 neurofibromatosis.

Although the protean manifestations of neurofibromatosis have been studied for many years, much is yet to be learned about this disease in young children. Specifically, little is known about the prevalence and significance of early neurotologic abnormalities in this population. Our review of the recent literature, however, failed to identify any publication on the use of ABR and acoustic reflex testing in the pediatric neurofibromatosis population. This study reports on a standardized differential diagnostic battery conducted on 44 children diagnosed as having neurofibromatosis. Results of the neuroaudiologic battery indicated that 32% of the children had significant abnormalities on ABR and acoustic reflex dynamic tests. This is a substantially higher prevalence of abnormalities than reported by another group at a recent NIH concensus meeting on neurofibromatosis. Discussion of the implications of these findings regarding evaluation protocols, as well as management for this select patient population, will follow.

Acoustic Impedance Tests↗
PubMed2005

High frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis in Brazilian patients with neurofibromatosis type 1.

A clinical study of Brazilian patients with neurofibromatosis type 1 (NF1) was performed in a multidisciplinary Neurofibromatosis Program called CEPAN (Center of Research and Service in Neurofibromatosis). Among 55 patients (60% females, 40% males) who met the NIH criteria for the diagnosis of NF1, 98% had more than six café-au-lait patches, 94.5% had axillary freckling, 45% had inguinal freckling, and 87.5% had Lisch nodules. Cutaneous neurofibromas were observed in 96%, and 40% presented plexiform neurofibromas. A positive family history of NF1 was found in 60%, and mental retardation occurred in 35%. Some degree of scoliosis was noted in 49%, 51% had macrocephaly, 40% had short stature, 76% had learning difficulties, and 2% had optic gliomas. Unexpectedly high frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis were observed, probably reflecting the detailed clinical analysis methods adopted by the Neurofibromatosis Program. These same patients were screened for mutations in the GAP-related domain/GRD (exons 20-27a) by single-strand conformation polymorphism. Four different mutations (Q1189X, 3525-3526delAA, E1356G, c.4111-1G>A) and four polymorphisms (c.3315-27G>A, V1146I, V1317A, c.4514+11C>G) were identified. These data were recently published.

Adolescent↗
PubMed1990

High-intensity basal ganglia lesions on T1-weighted MR images in neurofibromatosis.

Basal ganglia lesions, characterized on MR by increased signal intensity on T1-weighted images, were observed in seven patients with documented neurofibromatosis. These lesions most often involved the globus pallidus and internal capsules in a bilateral and symmetric fashion, and extended across the anterior commissure resulting in a "dumbbell" configuration. Smaller and less prominent foci of increased signal also were present on corresponding T2-weighted images. These lesions did not exhibit mass effect, edema, or enhancement with gadolinium-DTPA. They were not visible on CT (performed in two patients) and demonstrated no progression during a 2-year interval in three patients. Their signal characteristics and morphology suggest that they represent heterotopias containing Schwann cells and/or melanin deposits. Migrational abnormalities of these neural crest derivatives are known to occur in neurofibromatosis, and the presence of such heterotopias has been documented pathologically in patients with this disorder. While recent reports discuss foci of increased signal intensity on T2-weighted MR images in patients with neurofibromatosis, signal abnormalities on T1-weighted images have not yet been described. When lesions characterized by similar signal as well as morphologic characteristics are encountered on MR, the diagnosis of neurofibromatosis should be considered.

Adolescent↗
PubMed1976

Neurofibromatosis in childhood: a review of 25 cases.

The initial symptoms and signs of neurofibromatosis in 25 children are reported, and the literature is briefly reviewed. Two little known associations of neurofibromatosis are revealed. Four children showed hydrocephalus related to stricture of the aqueduct of Sylvius. Four other children presented with failure to thrive in infancy which was regarded in retrospect as a non-specific association of neurofibromatosis. It is emphasized that such manifestations may be the presenting features of neurofibromatosis in children.

Brain Neoplasms↗
PubMedDate not supplied

Combined hamartoma of the retina and retinal pigment epithelium as the presenting sign of neurofibromatosis-1.

The authors report a case of combined harmartoma of the retina and retinal pigment epithelium in a 6-year-old child as the presenting sign of neurofibromatosis-1. The patient was followed closely for three years but received no treatment. Observation over these years revealed no significant change in the patient's visual acuity. A referral to the University of California San Francisco (UCSF) Neurofibromatosis Clinic resulted in a diagnosis of neurofibromatosis (NF)-1, and she continues to be observed for further systemic manifestations of this disease. Combined hamartoma of the retina and retinal pigment epithelimicrom, a rare and benign tumor, can be easily mistaken for malignant processes such as retinoblastoma or choroidal melanoma. Ophthalmologists should also be aware of the association with neurofibromatosis and consider this diagnosis when such retinal findings are observed in a child.

Child↗
PubMed2001

[Decreased bone mineral density as a risk factor in the development of spinal deformities in neurofibromatosis].

Neurofibromatosis-1 is a here-do-familiar disorder that is associated with a variety of skeletal anomalies, mostly with spinal deformities in 10-50% of the patients. Intraoperatively, a poor vertebral bone quality has been observed. Efforts have been made to identify factors preventing curve progression, to optimize operational planning and to explain the pathomechanism. As part of the preoperative evaluation, the authors used a dual X-ray absorptiometry to assess the bone mineral density of the lumbar spine in 12 non operated patients with neurofibromatosis-1, supplemented by laboratory blood/urine investigations. A significant decrease in bone mineral density of lumbar spine was measured. An inverse relation was suggested between the severity of scoliosis and the lumbar spine Z-scores. No pivotal alterations were identified in the laboratory measurements. The bony tissue abnormality observed intraoperatively in neurofibromatosis-1 patients may be described as a diminution of the axial bone mineral density. The evaluation of bone mineral density in the course of the preoperative planning is proposed in neurofibromatosis-1.

Absorptiometry, Photon↗
PubMedDate not supplied

Von Recklinghausen Gesellschaft: the German lay organization for patients with neurofibromatosis.

SUMMARY: The German lay organization of patients with neurofibromatosis was founded in Hamburg, Germany in 1987. The organization is named after the pathologist Friedrich Daniel von Recklinghausen, the "Von-Recklinghausen-Gesellschaft" (VRG). The aim of this non-profit making organization is to popularize the knowledge about the diseases that are presently termed "neurofibromatosis" in the medical area. A second aim is to get patients and their relatives together in order to improve their social integration. Starting with a group of a few patients and medical professionals, the VRG presently has more than 1,300 members. The neurofibromatosis ambulance in Hamburg, established in 1991, supports about 700 patients per year. Altogether more than 4,000 neurofibromatosis outpatients have been investigated by an interdisciplinary approach since the establishment of the organization..

Genes, Tumor Suppressor↗
PubMedDate not supplied

Hypopituitarism associated with neurofibromatosis type 1: report of one case.

Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder with a wide range of clinical manifestations. Hydrocephalus unrelated to brain tumors is rare in neurofibromatosis type 1. A 16-year-and-6-month-old girl with primary amenorrhea was found to have hydrocephalus associated with neurofibromatosis type 1. After endocrine and brain imaging study, the cause of primary amenorrhea was proven to be hypopituitarism due to hydrocephalus. She entered puberty soon after relieving the hydrocephalus with a ventriculoperitoneal shunt. However, arrest of puberty was noted three months later. Therefore estrogen replacement therapy was given. Early detection of hydrocephalus was difficult in this patient. From the experience of our case, MRI study of brain is indicated in patient with neurofibromatosis type 1 and endocrine dysfunction.

Adolescent↗
PubMed1992

Neurofibromatosis type 1: a case report and review of the literature.

Neurofibromatosis is the most common single-gene disorder of the nervous system. The chromosomal defects for at least two forms of neurofibromatosis have been delineated and mapped to chromosomes 17 (type 1) and 22 (type 2). The clinical course for either type of neurofibromatosis is unpredictable, and serious neurologic and systemic manifestations frequently arise in patients with this disorder. A 66-year-old woman presented with rapidly progressive myelopathy requiring operative decompression of the spinal canal to preserve function of the lower extremities. It is important to recognize the characteristics of neurofibromatosis and understand the natural history of this condition. Conservative treatment is the rule, treating new manifestations as they arise.

Aged↗
PubMed1990

[Neurinoma of the 8th cranial nerve. Surgical indications in neurofibromatosis].

There are two types of neurofibromatosis, i.e. peripheral neurofibromatosis (type 1) and central neurofibromatosis (type 2). Neurinomas of the acoustic nerve are basically seen in central neurofibromatosis, in which case they are generally bilateral. Surgical indications for neurinoma are rare and 5 patients will be discussed: 2 of these underwent an operation on the neurinoma by the posterior route on several occasions, while 1 patient was operated by the trans-labyrinth route. Nuclear magnetic resonance remains the best means of monitoring.

Adult↗