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At least 649 records · Page 36Linked to original sources
PubMed1997

Homozygous deletion of the neurofibromatosis-1 gene in the tumor of a patient with neuroblastoma.

The neurofibromatosis type 1 (von Recklinghausen, NF1) gene has been proposed as a suppressor gene in tumors associated with neurofibromatosis. Recent publications have indicated that the NF1 gene can be rearranged in neuroblastoma cell lines. We analyzed DNA from a neuroblastoma patient with NF1 inherited as a familial trait on the paternal side. Using PCR and Southern techniques we showed that the patient had a constitutional deletion of several exons of the paternally derived NF1 gene and that the maternal copy of the gene had been deleted in the tumor of the patient. This is the first instance of a homozygous deletion reported in a primary neuroblastoma tumor. This suggests that NF1 inactivation in involved in the development or progression of some neuroblastomas in agreement with the hypothesized two hit model of inactivation for a tumor suppressor. These results are concordant with other groups that have detected unbalanced translocations t(1;17) in neuroblastoma tumors, with a breakpoint in chromosome 17 that may coincide with the location of the NF1 gene.

Blotting, Southern↗
PubMed1985

Cutaneous segmental neurofibromatosis.

Two patients with multiple cutaneous neurofibromas restricted to a dermatomal portion of the skin are described. Neither patient had clinical evidence or a family history of generalized neurofibromatosis. Whether this represents a distinct disorder, sui generis, or a variant in the spectrum of neurofibromatosis is unknown.

Adolescent↗
PubMed1979

Incomplete branchial arch syndromes, branchial cleft cyst and vascular hamartoma in a patient with multiple neurofibromatosis.

A case report with simultaneous occurrence of neurofibromatosis, incomplete branchial arch syndromes, a branchial cleft cyst and a pseudocyst in connection with a vascular hamartoma anterior to the right ear of a 38-year-old woman is presented. A possible common pathogenesis of the vascular hamartoma and the incomplete branchial arch syndromes as well as that of the neurofibromatosis is suggested. The pseudocyst is interpreted as a branchial cleft cyst showing inflammatory changes due to a pharyngitis shortly before the preauricular tumor appeared.

Adult↗
PubMed1981

Maxillofacial deformities in neurofibromatosis.

Four patients with neurofibromatosis are described: all displayed the feature of an increased depth of the sigmoid notch probably due to an expansive growing neurofibroma of the inferior alveolar nerve. One patient had a local neurofibroma with an invasive growth pattern and only this patient shows hyperplasia of the bone. The suggestion is made, contrary to what is found in the literature, that only the invasive growth type gives rise to hyperplasia and this type is always concomitant with a localized form of neurofibromatosis.

Adolescent↗
PubMed1984

Pulsating exophthalmos associated with neurofibromatosis.

A patient with pulsating exophthalmos is presented. He had facial asymmetry, multiple cutaneous café-au-lait spots and a subcutaneous nodule, biopsy of which showed features consistent with neurofibromatosis. Radiographs of the orbit showed a deficiency of the superolateral orbital wall, a feature previously recognized as part of neurofibromatosis. This feature probably occurs as a result of mesodermal dysplasia. The differential diagnosis and management are discussed.

Adult↗
PubMed1992

Aneurysms of the carotid arteries associated with von Recklinghausen's neurofibromatosis.

Aneurysms of both common carotid arteries were seen in a patient with neurofibromatosis. Histologic examination of the involved arteries demonstrated a dense proliferation of spindle cells within the arterial walls accompanied by medial cystic degeneration and disruption of the tunica elastica. These changes were also observed in adjacent, grossly uninvolved segments of the blood vessels. Immunohistochemical analysis of the proliferating cells was positive with antibodies against desmin and muscle-specific actin. The findings demonstrate and confirm the smooth muscle origin of the aberrant proliferated cell population in arteries in a patient with von Recklinghausen's neurofibromatosis.

Adult↗
PubMed1984

An arachnoid cyst in an 8-year-old boy with neurofibromatosis.

Although associations of a variety of developmental abnormalities of the brain and the spinal cord with neurofibromatosis have been reported, association of a cerebral arachnoid cyst with neurofibromatosis is extremely rare. We report the second case of this association in an 8-year-old Japanese boy.

Arachnoid↗
PubMed2000

Growth hormone deficiency in children with neurofibromatosis type 1 without suprasellar lesions.

Risk factors for shortness of stature in children with neurofibromatosis type 1 (NF-1) include suprasellar lesions, which can lead to growth hormone deficiency (GHD), skeletal deformities, nutritional insufficiency, and methylphenidate use. At our Neurofibromatosis Clinic, we have observed short children growing poorly without these risk factors. This study investigated whether GHD occurs in children with NF-1 in the absence of suprasellar lesions. Of 251 children with NF-1, 112 were at or below the 25th percentile for height (68 were at or below the 10th). Of these, 51 children, 5-16 years of age were short, growing poorly, and without medical or radiologic findings to explain the poor growth. In 19 of 51, we evaluated GH secretion; 15 of 19 had GHD (peak GH level less than 5 ng/mL in most cases). These findings suggest that GHD may be relatively common in short children with NF-1 without suprasellar abnormalities, suggesting an association with NF-1 independent of organic, pituitary damage. Larger cohorts of NF-1 children should be evaluated to clarify whether NF-1 represents a novel etiology of GHD. Also, a careful assessment of GH secretion in children with NF-1 who are growing poorly in the absence of another clinical explanation is warranted.

Adolescent↗
PubMedDate not supplied

Prominent myelin vacuolization in neurofibromatosis type 2.

Myelin vacuolization has previously been documented by MRI with histopathologic correlation in patients with neurofibromatosis type 1. This paper presents a patient with neurofibromatosis type 2 with MRI findings consistent with a prominent form of myelin vacuolization, unilaterally involving the right thalamus, globus pallidus and substantia nigra. On MRI, they appeared as multiple nodular-ovoid structures with a layered configuration. They were hypointense on T1-weighted, and FLAIR images, and hyperintense on T2-weighted images. On the apparent diffusion coefficient (ADC) map of an echo-planar diffusion imaging sequence, their ADC value ranged between 1.98 and 2.27x10(-3) mm(2)/s, a value higher than that of normal cerebral parenchyma, less than that of CSF.

Adult↗
PubMed2002

[Neurofibromatosis 1: recommendations for management].

Twenty experts, members of a French medical network devoted to neurofibromatosis 1 have elaborated recommendations for the management of the disease. Bibliography was obtained through a Medline of articles from 1966 to 1999 for the terms neurofibromatosis, NF1, neurofibroma and from textbooks. A consensual document was written taking into account extracted data. An annual careful clinical examination is recommended except in cases with complications. Screening investigations are not recommended due to the rarity of complications, generally symptomatic and easily detected during the clinical follow-up. The only controversial exception might be magnetic resonance imaging for early detection of optic pathway gliomas in young children. A co-ordinated follow-up in specialised multidisciplinary centres, providing patients with a rational management, is recommended.

Adolescent↗
PubMed2003

[Juvenile myelomonocytic leukaemia, xanthoma, and neurofibromatosis type 1].

The triple association of leukemia, xanthogranulomas, and type 1 neurofibromatosis was first described in 1958. Most leukemias were juvenile myelomonocytic leukemias (JMML), usually called juvenile chronic myelogenous leukemia. We describe a 22-month-old female child with neurofibromatosis 1, xanthomagranulomas, and a JMML. Her mother and her brother also had cutaneous café-au-lait spots. Our patient was treated with mercaptopurine and improved. However, 9 months later she experienced a blastic transformation. The presence of xanthomagranulomas and NF1 in a young child should alert to a possible development of JMML, especially in patients with a family history of NF1.

Antimetabolites, Antineoplastic↗
PubMed2001

Embolization of a ruptured intercostal artery aneurysm in type I neurofibromatosis.

We present the case of a female with history of a ruptured lumbar aneurysm years ago. She was known to have neurofibromatosis type I with the typical clinical signs. The patient was transferred to us with a hematothorax and an aortic lesion was suspected on the outside CT scan. Reevaluation of the investigation raised suspicion of a ruptured intercostal artery aneurysm, which was consequently demonstrated on angiography. The aneurysm was embolized and the patient recovered uneventful. We will discuss the optimal therapy for vessel lesions in neurofibromatosis type I.

Adult↗
PubMed1998

The diagnosis and management of neurofibromatosis 2 in childhood.

Neurofibromatosis 2 (NF2) is an autosomal-dominant condition that causes multiple benign nervous system tumors, especially vestibular schwannoma. Although frequently confused with the more common neurofibromatosis 1, NF2 presents a distinct set of diagnostic, genetic, and management issues. The presentation and natural history of NF2 differs in children and adults, with eighth nerve dysfunction often overshadowed by the effects of other tumors on the nervous system. Molecular diagnostics is an important tool for early recognition of NF2, and when performed in the context of appropriate counseling and follow-up, may lead to a better final outcome of the disease. Further research into the molecular genetic etiology of NF2 promises to broaden the possibilities of therapy for this devastating disorder.

Adolescent↗
PubMed1996

Radiographic features of the mandible in neurofibromatosis: a report of 10 cases and review of the literature.

The radiographs of 10 cases with a diagnosis of neurofibromatosis involving the mandible were evaluated by two reviewers to document common radiographic characteristics. The most common findings included increase in bone density, enlarged mandibular foramen, lateral bowing of the mandibular ramus, increase in dimensions of the coronoid notch, and a decrease in the mandibular angle. The six cases for which computed tomography scans were available, enlargement of the mandibular foramen and concavity of the medial surface of the ramus were seen. In five of these cases, there was no associated tumor mass adjacent to the concavity; instead a soft tissue mass with density of fat was found. This supports the theory that neurofibromatosis may have manifestations of a mesodermal dysplasia.

Adolescent↗
PubMed1997

Perineural fibrous thickening within the dental pulp in type 1 neurofibromatosis: a case report.

A case of type 1 neurofibromatosis is presented that illustrates oral manifestations and their role in the diagnosis of this condition. The oral lesions may be overlooked in the diagnosis of intraoral swellings. This case documents the finding of perineural fibrous thickening within the dental pulp. Such changes may indicate pulpal involvement in neurofibromatosis and the effect of a genetically transmitted disorder upon the pulp.

Adult↗
PubMed1993

A clinical, genetic and audiological study of patients and families with bilateral acoustic neurofibromatosis.

The neurofibromatoses consist of at least two distinct autosomal dominant hereditary disorders. Neurofibromatosis type 1 (NF1) is due to a lesion on chromosome 17q. Neurofibromatosis type 2 (NF2) is caused by a defect on chromosome 22q. The hallmark of NF2 is the development, in the second and third decades, of bilateral acoustic neuromas. NF1 is characterized by the appearance of café-au-lait spots and neurofibromas in addition to iris hamartomas, or Lisch nodules, of the eye, during the first and second decades. Ten families were personally studied. A total of 16 members were found to be affected with NF2. A protocol for evaluation and review of subjects and relatives of NF2 families is proposed. A team approach, coordinating the expertise of multiple specialties is recommended.

Adolescent↗
PubMed2005

Neurofibromatosis type 1 in a pediatric population: Ste-Justine's experience.

BACKGROUND: To date, few pediatric series of neurofibromatosis type 1 (NF-1) have been described in the literature even though it is the most frequently encountered phakomatosis. METHODS: We reviewed 987 charts of pediatric patients with a presumptive diagnosis of NF-1 who were evaluated at Ste-Justine hospital from January 1, 1991 to July 31, 2002. Patients who presented with two or more cardinal criteria were diagnosed with NF-1. Clinical and laboratory data were retrospectively collected, including: demographics, neuroimaging and presence or absence of associated symptoms or signs of NF-1. RESULTS: A total of 279 patients were diagnosed with NF-1. The mean age at diagnosis was 3.4 years. Ninety-nine percent of the patients had café au lait spots and 47% had a first degree relative with NF-1. Almost 60 percent (59.6%) of those seen by an ophthalmologist had Lisch nodules. Optic glioma was found in in 14.7%, cutaneous neurofibromas in 38.4%, plexiform neurofibromas in 24.7%, neurofibrosarcoma in 1.8%, learning disabilities in 39%, attention deficit disorder in 40.5%, osseous dysplasias in 7.2%, pseudoarthrosis in 3.6%, precocious puberty in 3.2% and short stature in 17.9%. Magnetic resonance, when performed, showed hyperintense T2 lesions in 87.1% of cases. The mean period of follow-up was 7.4 years. CONCLUSION: Neurofibromatosis type 1 is a multisystemic disorder associated with increased risk of malignancy. It can be diagnosed at a very young age and clinical follow-up is advised. To our knowledge, this is the largest single center study of NF-1 in a pediatric population.

Adolescent↗
PubMedDate not supplied

Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22.

Bilateral acoustic neurofibromatosis (BANF) is a severe autosomal dominant disorder involving development of multiple tumours of the nervous system including meningiomas, gliomas, neurofibromas and particularly bilateral acoustic neuromas. We have used genetic linkage analysis with DNA markers to establish that the defective gene causing BANF is on chromosome 22, and is therefore distinct from the gene for the von Recklinghausen form of neurofibromatosis, which maps to chromosome 17. Linked DNA markers will be particularly valuable in BANF, facilitating early detection of tumours and thereby permitting more effective surgical intervention. In view of the reported loss of genes on chromosome 22 in meningiomas and acoustic neuromas, the genetic localization of the primary BANF defect strongly supports the concept that the disease locus encodes a 'tumour suppressor' gene. Isolation of this gene should provide insights into the pathogenesis of acoustic neuromas and other nervous system tumours, as well as into the control of proliferation and differentiation of neural crest cells.

Chromosome Mapping↗