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PubMed1996

[Neurofibromatosis type I in Norway. A clinical prevalence study based on a small project].

Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder that mainly affects the skin, the nervous system and the skeleton. An incidence of 1:4,000 gives approximately 1,100 patients in Norway. At Frambu we concluded a model project for three years to achieve better care from the medical, psychosocial and educational aspects. We also included a prevalence study of symptoms and complications in 129 patients. We found a complication rate remarkably like that found in previous prevalence studies, despite the fact that many of our patients were ascertained to be relatives of affected children, and were undiagnosed until the child was examined. Our project showed that, because neurofibromatosis is a multifaceted disorder, a team approach involving health-workers and teachers is needed for better care of affected children.

Adult↗
PubMed1996

[Neurofibromatosis with abdominal and severe central nervous system complications].

A young male patient suffered in cutaneous neurofibromatosis was followed during four years. He developed tissue proliferations of various histological structures manifested in the skin, central nervous system and different splanchnic organs. The classification criteria of neurofibromatosis as well as the diagnostic and therapeutic recommendations are discussed.

Abdomen↗
PubMed1996

Neurocristopathy resembling neurofibromatosis type 1 in an NGF-SV40 transgenic line.

BACKGROUND: Animal models of carcinogenesis have been produced in transgenic mice by directing the expression of oncogenes such as SV40 T antigen and myc to different tissues by creating fusions with promoter/enhancer elements of various mammalian or viral genes. RESULTS: A transgenic mouse line was created in which SV40 T antigen is under the control of the mouse nerve growth factor (NGF) promoter. While the oncogene is expressed in a wide range of NGF producing tissues, it specifically causes the development of either neurofibromas or neurofibrosarcomas similar to those found in the human disease neurofibromatosis type 1 (NF1). These tumours are completely penetrant and appear after a mean latency of about 8 months. In contrast to the previously reported neurofibromatosis mouse model HTLV-1 tax, the tumours in these transgenic mice arise in Schwann cells rather than perineural fibroblasts and have a very restricted tissue distribution. In a cell line cloned from a neurofibroma from these mice, NGF was detected in the culture medium at levels similar to those produced by cultured primary Schwann cells. CONCLUSION: As all animal model for a heritable neurocristopathy resembling NF1, this mouse should allow study of the pathology and treatment of this disease.

Animals↗
PubMed1997

Diagnosing neurofibromatosis type I in children.

Neurofibromatosis is the single most common genetic disease of the neurologic system. Because neurofibromatosis type 1 (NF-1) is often diagnosed early in life, it is essential that health care providers deepen their understanding of this common genetic disorder. Children who meet particular criteria, as formulated by the National Institutes of Health, must be worked-up for NF-1 in order to initiate appropriate treatment implementation and evaluation. This article provides a review of the literature regarding the pathophysiology, clinical manifestations, and plan of treatment related to NF-1, specifically as it affects children. Clear guidelines for health care providers in primary care are outlined.

Adolescent↗
PubMed1997

[Atypical aortic coarctations in type I neurofibromatosis].

From 1971 through 1996, 16 patients were operated on for atypical aortic coarctation. Three of them (two women, 18 and 27 years old, one boy, 13 years old) had typical signs of neurofibromatosis type I (NF1). All had renovascular hypertension due to suprarenal and/or interrenal aortic stenosis. Two had additional bilateral renal artery stenoses, one with a poststenotic aneurysm. In all patients a thoraco-abdominal aorto-aortic bypass was implanted. The renal artery stenoses were bridged by two aorto-renal, a prothesio-renal, and a spleno-renal bypass. Only one kidney had to be explanted 13 years after revascularization for a recurring hilar aneurysm after ex-situ reconstruction was found to be impossible. At their last follow-up examination (at 16, 14, and 9 years) all patients were normotensive without medication and had normal serum-creatinine measurements. Angiography or spiral-CT done in all patients showed normal function of all bypasses. In literature we found another 27 patients with neurofibromatosis operated on for atypical aortic coarctation. In these young and otherwise healthy patients, even complex reconstructions can be performed with a low rate of complications and excellent long-term results. Surgical therapy of all relevant stenoses (at best in a single procedure) is necessary for complete relief of renovascular hypertension. Consequent follow-up is advised for the detection of possible late complications, especially after exclusion of aneurysms.

Adolescent↗
PubMedDate not supplied

99mTc MIBI in neurofibromatosis imaging diagnosis: case report.

99mTc MIBI has been shown to accumulate in different cancer cells types, in vitro and malignant tumours in vivo, making evidence of the scintigraphic diagnostic of them. We report two cases of neurofibromatosis type I, which has realised high levels of 99mTc MIBI uptake, primary to all chemo- or radiotherapy. Only certain zones of tumorous localisation have been seen, but a relation with the lesion histology was not really established. In conclusion, 99mTc MIBI scintigraphy may be usefull in the investigation of type I neurofibromatosis.

Adolescent↗
PubMed1998

Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome.

Neurofibromatosis type 1 (NF1), a genetic disorder with neuroectodermal involvement, demonstrates phenotypic overlap in some patients with Noonan syndrome (NS), ultimately resulting in the so-called neurofibromatosis-Noonan syndrome (NF-NS). A strong association of the two phenotypic traits was recently illustrated by a four-generation family, although NF1 and NS were eventually demonstrated to segregate independently on the basis of polymorphic DNA markers [Bahuau et al., 1996: Am J Med Genet 66:347-355]. Identification of the causal NF1 mutation seemed a prerequisite to further dissecting this singular familial association. Using the protein truncation assay, a nonsense mutation (C2446T-->R816X) of the neurofibromin gene was evidenced. This mutation occurred on a CpG dinucleotide within exon 16 and 5' to the GAP domain-specifying region of the gene. R816X creates a recognition site for endonuclease HphI, absent in 2 individuals with NS only. Screening 184 unrelated NF1 patients, three novel occurrences of the mutation were found in individuals diagnosed with classical NF1. Based on the assumption of genotype-phenotype correlation in these individuals, clinical and molecular analyses of this four-generation family demonstrated that the NF-NS phenotype was additive, being the result of both classical NF1 and NS. This particular observation also suggests the presence of an NS locus on 17q, which might be of interest for further linkage studies.

DNA Mutational Analysis↗
PubMed1998

[A case of neurofibromatosis type I associated with basal meningocele and abnormal vessels].

A 21-year-old man with neurofibromatosis type 1 (NF 1) had many widespread cutaneous neurofibroma on his right face. Magnetic resonance imaging (MRI) revealed basal meningocele due to dysplasia of the skull base. Carotid and vertebral angiograms revealed occlusion of the right internal carotid artery, persistent primitive trigeminal artery. We have reviewed the clinical and radiographic features of this case of neurofibromatosis, meningocele and cerebral arterial abnormalities. NF associated with both intracranial vascular malformation and meningocele is very rare, and in our case both were thought to arise congenitally as a manifestation of mesodermal dysplasia. Careful follow up using MRI and MR angiography should be performed for such patients.

Adult↗
PubMed1998

[A rare combination of pheochromocytoma ans somatostatin-rich neuroendocrine tumor of Vater's papilla (carcinoid) in a patient with von Recklinghausen neurofibromatosis].

A 74-year-old male suffering from Recklinghausen's fibromatosis (NvR) is reported. He presented with weight loss, cholestasis, endocrine and exocrine pancreatic insufficiency. These symptoms were caused by a neuroendocrine tumor of the ampulla of Vater containing somatostatin. The tumor induced an obstruction of both the common bile and the pancreatic duct. In addition to this uncommon tumor, a silent pheochromocytoma was found. The patient was treated by endoscopic papillotomy, substitution of pancreatic enzymes and additional enteral nutrition. After recovery no progression of the disease was observed over one year. A review of the literature shows that patients with neurofibromatosis are at high risk for periampullar tumors. In particular, somatostatin-rich carcinoids were previously documented. Pheochromocytomas are also quite prevalent in NvR. However the combination of NvR, pheochromocytoma and somatostatin-rich neuroendocrine tumors of the duodenum has only been reported a few times. An explanation for the high prevalence of neuroendocrine tumors in NvR might be the loss of neurofibromin, a tumor suppressor protein, which is the main product of the neurofibromatosis-l-gene.

Aged↗
PubMedDate not supplied

Spontaneous regression of a tectal mass in neurofibromatosis 1.

MR images showed an enhancing, enlarging mass in the tectum of the midbrain in a child with neurofibromatosis type 1. The mass was presumed to be a tectal glioma, which initially enlarged then regressed in size over a 3-year period and ceased to enhance. Although a tissue diagnosis was not available, we believe the temporal evolution of this lesion is strong presumptive evidence of a hamartoma. This case argues for the conservative management of patients with neurofibromatosis type 1 when possible.

Adolescent↗
PubMedDate not supplied

[Ischemic lesions of the retina in a child with neurofibromatosis 1].

A rare case is described: unilateral diffuse retinal ischemia in a 3-year-old girl with type I neurofibromatosis. Besides retinal involvement, the child developed melanocytic iridial hamartomas in the ipsilateral eye and skin disorders presenting as "milk-and-coffee" spots and freckles in the armpits. Differential diagnosis and pathogenesis of retinal ischemia in neurofibromatosis are discussed.

Child, Preschool↗
PubMed1998

[Malignant lymphoma occurring in a patient with neurofibromatosis type 1 (von Recklinghausen disease)].

Malignant lymphoma developed in a 65-year-old man with type 1 neurofibromatosis (von Recklinghausen disease). The patient visited the hospital for evaluation of generalized lymphadenopathy. A physical examination discovered café au lait spots, neurofibromas, and generalized enlargement of the superficial lymph nodes. A computed tomogram demonstrated enlarged mediastinal and para-aortic lymph nodes in the abdomen. Biopsy specimens from the right side of the patient's neck were examined, and a diagnosis of non-Hodgkin's lymphoma (diffuse mixed type, T cell type) was made. Although the patient achieved a partial response with combination chemotherapy, he died of pneumonia. Cases of malignant lymphoma associated with type 1 neurofibromatosis are rare in the literature.

Aged↗
PubMed1978

Neurofibromatosis and interstitial lung disease.

The literature suggests that 10% to 20% of adult patients with neurofibromatosis have associated interstitial lung disease. Characteristics of such involvement, as present in the case reported herein, include bilateral lower lobe fibrosis and may include bullous and cystic changes in advanced cases. In addition to pulmonary fibrosis, neurofibromatosis may have other intrathoracic associations; including "dumbbell" neurofibromas, intercostal neurofibromas, and intrathoracic meningoceles.

Humans↗
PubMed1999

Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1.

Heterozygous germ-line mutations in the DNA mismatch repair genes lead to hereditary nonpolyposis colorectal cancer. The disease susceptibility of individuals who constitutionally lack both wild-type alleles is unknown. We have identified three offspring in a hereditary nonpolyposis colorectal cancer family who developed hematological malignancy at a very early age, and at least two of them displayed signs of neurofibromatosis type 1 (NF1). DNA sequence analysis and allele-specific amplification in two siblings revealed a homozygous MLH1 mutation (C676T-->Arg226Stop). Thus, a homozygous germ-line MLH1 mutation and consequent mismatch repair deficiency results in a mutator phenotype characterized by leukemia and/or lymphoma associated with neurofibromatosis type 1.

Adaptor Proteins, Signal Transducing↗
PubMed2004

Association between the neurofibromatosis-1 (NF1) locus and autism in the Japanese population.

Autistic patients have a 100 to 190-fold increased risk of neurofibromatosis compared to the general population. This suggests that the two diseases may share a common etiological background. Recently, a new allele (or the six-repeat allele) of the (AAAT)(n) repeat polymorphism in an Alu sequence in the neurofibromatosis-1 (NF1) gene was observed exclusively in severe autistic patients, not in controls, in Caucasians of French ancestry. This suggests a role of the NF1 gene in the development of autism. We investigated three microsatellite polymorphisms within the intron-27b and intron-38 of the NF1 region, including the (AAAT)(n) and two (CA)n repeat polymorphisms, in Japanese subjects with autism (n = 74) and controls (n = 122). The six-repeat allele of the (AAAT)(n) polymorphism was not found either in patients or controls, possibly indicating an ethnic difference in the polymorphism. However, significant differences were observed in the allele distributions of the (AAAT)(n) and a (CA)(n), which were located at intron-27b, between patients and controls, although an association was not significant between autism and another polymorphism at intron-38. This may suggest an involvement of the NF1 locus in susceptibility to autism, although further investigations are recommended.

Adolescent↗
PubMed1993

Characterization of over-expressed alkaline phosphodiesterase I in tumour-derived fibroblasts from patients with neurofibromatosis.

Alkaline phosphodiesterase I from cultured fibroblasts from patients with neurofibromatosis was partially purified and characterized following extraction with Triton X-100, and fractionation with high-performance liquid chromatography. Some properties were compared with the enzyme extracted from normal-appearing fibroblasts. The isoelectric points of both the tumour and normal-appearing cell enzymes were 6.0. The enzyme required Zn2+ for its activity, was heat labile, and nicked superhelical covalently closed circular phi X174 DNA. The activity was inhibited by GTP, DTT and EDTA. The native molecular weight of alkaline phosphodiesterase I was determined to be 430,000. No differences were found in properties of the tumour-derived and normal cell enzymes. On purification it was observed that the peak pattern of enzyme activity corresponded to that of 125 kDa protein, which was more abundant upon SDS-PAGE analysis in tumour cells than in normal cells. The most active fraction of isoelectric focusing, which was performed using disulfide cross-linked polyacrylamide gel, was used to produce an antibody. The bands of 125, 60 and 40 kDa were immuno-stained in tumour cell preparation. These results indicate that alkaline phosphodiesterase I, of which the molecular weight is probably 125 kDa, is over-expressed in tumour-derived fibroblasts from neurofibromatosis patients.

Antibodies, Neoplasm↗
PubMed2006

Regulation of the neurofibromatosis 2 gene promoter expression during embryonic development.

Mutations in the Neurofibromatosis 2 (NF2) gene are associated with predisposition to vestibular schwannomas, spinal schwannomas, meningiomas, and ependymomas. Presently, how NF2 is expressed during embryonic development and in the tissues affected by neurofibromatosis type 2 (NF2) has not been well defined. To examine NF2 expression in vivo, we generated transgenic mice carrying a 2.4-kb NF2 promoter driving beta-galactosidase (beta-gal) with a nuclear localization signal. Whole-mount embryo staining revealed that the NF2 promoter directed beta-gal expression as early as embryonic day E5.5. Strong expression was detected at E6.5 in the embryonic ectoderm containing many mitotic cells. beta-gal staining was also found in parts of embryonic endoderm and mesoderm. The beta-gal staining pattern in the embryonic tissues was corroborated by in situ hybridization analysis of endogenous Nf2 RNA expression. Importantly, we observed strong NF2 promoter activity in the developing brain and in sites containing migrating cells including the neural tube closure, branchial arches, dorsal aorta, and paraaortic splanchnopleura. Furthermore, we noted a transient change of NF2 promoter activity during neural crest cell migration. While little beta-gal activity was detected in premigratory neural crest cells at the dorsal ridge region of the neural fold, significant activity was seen in the neural crest cells already migrating away from the dorsal neural tube. In addition, we detected considerable NF2 promoter activity in various NF2-affected tissues such as acoustic ganglion, trigeminal ganglion, spinal ganglia, optic chiasma, the ependymal cell-containing tela choroidea, and the pigmented epithelium of the retina. The NF2 promoter expression pattern during embryogenesis suggests a specific regulation of the NF2 gene during neural crest cell migration and further supports the role of merlin in cell adhesion, motility, and proliferation during development.

Animals↗