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PubMed1990

[CNS involvement in neurofibromatosis. A postmortem study].

Neurofibromatosis was recorded from 30 in 82,249 postmortem cases (0.036%) at the Medical Academy of Erfurt, Institute of Pathological Anatomy, between June 1, 1945 and December 31, 1986, among them 13 cases of classical peripheral neurofibromatosis generalisata Recklinghausen (NgR) and 17 with CNS involvement. These had been 10 males and 7 females who had died at an age from 8 to 77 years (average age and death being 39 years). CNS lesions were preferentially localised in periventricular sections of the third and fourth ventricles and the cerebral aquaeduct, with diffuse gliosis being recorded from 5 cases. Typical bilateral neurofibromatosis of the acoustic nerve was established from three males aged 19, 26 and 30 years. Spinal neurinoma or neurofibroma, meningioma, an astrocytoma of the cervical spinal cord, and leptomeningeal sarcomatosis were also recorded. Additional skeletal abnormalities were exhibited by four cases. Interest is generally growing in CNS involvement in neurofibromatosis due to the possibility of intravital diagnosis by computed tomography (CT) and magnetic resonance spectroscopy (MRI) and because of possible surgical therapy. Recent studies in molecular genetics, on the other hand, have shown classical NgR to be caused by a lesion to chromosome 17, while bilateral neurofibromatosis of the acoustic nerve was found to be based on a genetic defect to the long arm of chromosome 22.

Adolescent↗
PubMed1989

[Neurofibromatosis and development of cancer in childhood].

Neurofibromatosis takes two major forms; classical or peripheral neurofibromatosis as described by von Recklinghausen, which accounts for more than 90% of the cases, and central or bilateral acoustic neurofibromatosis. The diagnosis is often postponed until adulthood, since the classical signs gradually appear during childhood and adolescence. It is a relatively common autosomal dominant disorder affecting about one in 3,000. At least 20% of patients will develop one or more complications associated with neurofibromatosis. One of the complications is the development of malignancies. Four children at our hospital developed different forms of malignant tumours arising from neurofibromatosis. We recommend that all patients suffering from this disease are evaluated in detail after the diagnosis has been confirmed and are followed up every six to 12 months. In this way complications may be discovered early and the necessary steps taken.

Adolescent↗
PubMed1988

The Neurofibromatosis Clinic of the Children's Hospital of Philadelphia.

The Neurofibromatosis Clinic of the Children's Hospital of Philadelphia is a multidisciplinary clinic that provides a setting in which the diagnosis of neurofibromatosis can be made and follow-up of children with neurofibromatosis coordinated. It also offers genetic counseling to affected individuals and families. The Clinic acts as a referral center to the subspecialty disciplines when such specialty services are required. This report outlines the organization and operation of the Children's Hospital of Philadelphia Neurofibromatosis Clinic. It discusses the protocol used to evaluate the pediatric patient with neurofibromatosis and the importance of continuity of care for the patients and families.

Humans↗
PubMed1988

Hereditary intestinal neurofibromatosis. I. A distinctive genetic disease.

Intestinal neurofibromatosis without other manifestations of von Recklinghausen's neurofibromatosis was found in a multigeneration family. Neurofibromas were strictly limited to the intestine. Onset of symptoms was delayed until adulthood and some gene carriers remained asymptomatic into their middle or late adult years. One other family with intestinal neurofibromatosis has been described in 1966. No symptomatic male is yet known, although an asymptomatic male in our family is an obligate gene carrier. The gene for intestinal neurofibromatosis may be incompletely penetrant and its expression varies even in symptomatic patients. No male-to-male transmission has been recorded to rule out X linkage. Intestinal neurofibromatosis presents as a distinctive dominant phenotype with an increased risk of intestinal problems including bleeding, intussusception and obstruction.

Adult↗
PubMed1994

Tuberous sclerosis associated with neurofibromatosis: report of a case.

Neurofibromatosis and tuberous sclerosis are phakomatous syndrome diseases. They are both inherited as autosomal dominant diseases. Neurofibromatosis type 1 and tuberous sclerosis very seldom occur together. We report a 16-year-old male who had characteristics of these two diseases. This patient had all the criteria for a definitive diagnosis of tuberous sclerosis such as: classical shagreen patches, periungual fibroma, retinal hamartomata, facial angiofibroma, renal angiomyolipomata, and subependymal glial nodules on computed tomography. He also had the three presumptive diagnostic criteria: cardiac rhabdomyoma, seizure history and first degree relatives with tuberous sclerosis. The patient had more than six café-au-lait spots, the greatest diameter of which exceeded 15 mm in diameter. Multiple neurofibromas, one plexiform neurofibroma, axillary freckling and optic gliomas were also found on his body. These criteria are sufficient for a diagnosis of neurofibromatosis type 1 to be made. The skin biopsies were also consistent with the disease. Apart from the patient's mother and younger sister, who had tuberous sclerosis, there was no other person with neurofibromatosis type 1 in his immediate family. We believe that tuberous sclerosis was inherited from his mother and that neurofibromatosis type 1 may have resulted from mutation.

Adolescent↗
PubMed1978

[The problem of malignant degeneration in case of multiple neurofibromatosis (author's transl)].

Within less than one year, our hospital received three cases of malignant manifestation in case of multiple neurofibromatosis. If the histological findings and the neurogenic origin of the malignant tumor are evaluated very critically, the malignant suppression of the differentiation of one or more neurofibromas in case of multiple neurofibromatosis must be considered as occuring very rarely. If in case of a neurofibromatosis a malignant manifestation is found, it has to be examined very carefully by tissue specimens of numerous spots (Loehr and Willebrand), furthermore the neurogenic origin must be ensured (Zuelch). There are three clinical possibilities: 1. Sarcomatous degeneration of a neurofibroma with demonstrable neurogenic origin. 2. Histological appearence of a malignant suppression of the differntiation of a neurofibroma with benign clinical course. 3. Independent sarcoma as second disease without original connection to an existing multiple neurofibromatosis.--A critical evaluation of our cases showed that there was only one case of malignant tumor with neurogenic origin, namely a neurofibrosarcoma originating from a multiple neurofibromatosis.

Adult↗
PubMed1993

Magnetic resonance imaging. Its role in the neuroradiologic evaluation of neurofibromatosis, tuberous sclerosis, and Sturge-Weber syndrome.

BACKGROUND: Magnetic resonance imaging (MRI) has rapidly become a major diagnostic technique, displacing computed tomography (CT) as the primary neuroimaging modality in many disorders of the central nervous system. Neuroimaging studies are valuable in the diagnosis and management of neurofibromatosis, tuberous sclerosis, and Sturge-Weber syndrome. This article reviews the technique of MRI and its role in identifying the characteristic central nervous system manifestations of these neurocutaneous syndromes. OBSERVATIONS: MRI offers superior soft-tissue contrast without the use of ionizing radiation. It provides more detailed imaging than CT of the characteristic central nervous system lesions of neurofibromatosis, tuberous sclerosis, and Sturge-Weber syndrome. In neurofibromatosis type 1, these include optic glioma, astrocytoma, and plexiform neurofibroma, and "unidentified bright objects" that are seen only with MRI. Bilateral acoustic neuromas are the hallmark of neurofibromatosis type 2. Subependymal nodules and cortical and white matter tubers are characteristic of tuberous sclerosis. Manifestations of Sturge-Weber syndrome include leptomeningeal angiomatosis, hemiatrophy, cortical calcification, and patchy parenchymal gliosis and demyelination. CONCLUSIONS: MRI, especially with gadolinium enhancement, appears to be more sensitive than CT in the detection of neurofibromatosis, tuberous sclerosis, and Sturge-Weber syndrome. MRI may be the imaging method of choice for following certain patients or screening family members.

Brain Diseases↗
PubMed2001

The role of surgery in children with neurofibromatosis.

BACKGROUND/PURPOSE: Neurofibromatosis frequently is complicated by the development of symptomatic lesions such as optic gliomas and plexiform neurofibromas that require operative resection. Although characteristically benign, these neoplasms have often devastating functional and cosmetic effects and must be monitored for malignant transformation. The purpose of this study is to identify and describe the surgical considerations in the care of children with neurofibromatosis. METHODS: The authors reviewed the charts of all children (<21) at our institution with neurofibromatosis who underwent an operative procedure from 1979 to 1999. Patient demographics, symptomatic lesions, malignant transformation, form of surgical intervention, type of anesthesia, and outcome were collected. RESULTS: A total of 249 patients with either neurofibromatosis 1 or 2 were identified. Of these, 50 (20%) underwent a total of 93 operations. The average age at operation was 9.4 years (1.2 to 21 years). There were 40 soft tissue procedures, 21 intracranial, and 32 miscellaneous. The soft tissue masses typically were treated with wide local excision, and in 8 of these procedures multiple resections were performed. Fourteen of the 50 patients had malignancies. Five of the tumors were soft tissue sarcomas, and 9 were intracranial malignancies. Three patients died, 2 from malignancy and 1 from acute, obstructive hydrocephalus after operation. There were 3 patients alive with malignancy and 8 others living with varying levels of disability. CONCLUSIONS: Neurofibromatosis in the pediatric patient frequently requires surgical intervention, often because of symptoms such as pain or cosmetic deformity, or for malignancy. Children should be watched carefully for signs of malignant transformation and undergo biopsy for neurofibromas that exhibit rapid growth. Management of sarcomas should be aggressive with consideration given to re-excision, placement of brachytherapy catheters, metastectomy, and limb salvage with adjuvant therapy when possible. Preoperatively, children should receive clinical and radiographic (computed tomography or magnetic resonance imaging) evaluation for hydrocephalus.

Adolescent↗
PubMed2006

Superficial femoral vein invasion by a benign neurofibroma in a non-neurofibromatosis patient: case report.

OBJECTIVE AND IMPORTANCE: Neurofibromas are benign neural sheath tumors arising from intraneural supporting cells. Such tumors are characteristic of neurofibromatosis Type I (von Recklinghausen disease) but also occur sporadically. Vascular involvement by neurofibromata is rare, but has been described in the past in the context of neurofibromatosis. There is, to our knowledge, no description of vascular involvement by a neurofibroma in a non-neurofibromatosis patient. CLINICAL PRESENTATION: A 40-year-old woman presented with a 4 year history of a right thigh mass associated with diffuse lower extremity pain. She had no other clinical manifestations of neurofibromatosis and no known family member with neurofibromatosis Type I. Magnetic resonance imaging scans revealed a well-defined solid mass in the anteromedial aspect of the right thigh closely associated with the superficial femoral vein. INTERVENTION: The vessel segment and encapsulated mass were resected "en bloc" after proximal and distal ligation of the vein. The pathological appearance of the mass was consistent with a benign neurofibroma that had infiltrated all layers of the vessel. CONCLUSION: Vessel invasion by a benign sporadic neurofibroma is a rare occurrence with potentially severe implications for the patient. It suggests that surgical removal of asymptomatic benign-appearing lesions of that type should be considered if they are adjacent to important anatomical structures.

Adult↗
PubMed2005

Lack of evidence for an association between neurofibromatosis and pulmonary fibrosis.

STUDY OBJECTIVES: To reassess the association between neurofibromatosis and pulmonary fibrosis. DESIGN: Retrospective single-center study with analysis of patients' chest radiographs, CT scans, and medical records. SETTING: Tertiary care, referral medical center. PATIENTS: One hundred fifty-six adult patients with neurofibromatosis seen over a 6-year period between 1997 and 2002. RESULTS: A review of chest radiographs revealed abnormal findings in 70 patients (44.9%). The most common radiographic abnormalities were extrapulmonary nodules or masses seen in 22 patients (14.1%), followed by skeletal abnormalities in 16 patients (10.3%). Bilateral interstitial infiltrates were noted in only three patients (1.9%), all of whom had potential causes other than neurofibromatosis for their lung infiltrates, including smoking-related interstitial lung disease, rheumatoid lung disease, recurrent pneumonias, and a history of ARDS. CT scans were available in two of these patients and revealed nonspecific patterns of abnormalities with no honeycombing. Six patients had bullae or cystic airspaces demonstrated on chest radiography or CT scan; all of these findings occurred in the context of smoking-related emphysema. Combined together, bilateral interstitial lung infiltrates or cystic airspaces were demonstrated in five patients (3.2%) by chest radiography, and in eight patients (5.1%) by chest radiography or CT scanning; one patient had both findings on the CT scan. CONCLUSIONS: We found little evidence to support an association between neurofibromatosis and pulmonary fibrosis or any other form of parenchymal lung disease. Interstitial lung disease and bullae described in association with neurofibromatosis in previous reports may have, in part, represented smoking-induced manifestations.

Adult↗
PubMed1992

Somatic mutations in the neurofibromatosis 1 gene in human tumors.

The neurofibromatosis 1 (NF1) gene product, neurofibromin, contains a GTPase-activating protein (GAP)-related domain, or NF1 GRD, that is able to down-regulate p21ras by stimulating its intrinsic GTPase. Since p21ras.GTP is a major regulator of growth and differentiation, mutant neurofibromins resulting from somatic mutations in the NF1 gene might interfere with ras signaling pathways and contribute to the development of tumors. We describe an amino acid substitution in the NF1 GRD, altering Lys-1423, that has occurred in three tumor types: colon adenocarcinoma, myelodysplastic syndrome, and anaplastic astrocytoma, and in one family with neurofibromatosis 1. The GAP activity of the mutant NF1 GRD is 200- to 400-fold lower than that of wild type, whereas binding affinity is unaffected. Thus, germline mutations in NF1 that cause neurofibromatosis 1 can also occur in somatic cells and contribute to the development of sporadic tumors, including tumors not associated with neurofibromatosis 1.

Adenocarcinoma↗
PubMed2005

[Neurofibromatosis type 1 or Von Recklinghausen's disease].

OBJECTIVES: Neurofibromatosis 1(NF1) is one of the most common genetic diseases. NF1 is an autosomal dominant genetic disorder and half of affected individuals have NF1 as the result of a new gene NF1 mutation. The offspring of an affected individual have a 50% risk of inheriting the altered NF1 gene. The disease manifestations are extremely variable, even within a family. NF1 is characterized by multiple cafe au lait spots, axillary and inguinal freckling, multiple discrete dermal neurofibromas, and iris Lisch nodules. Learning disabilities are frequent. Less common but potentially more serious manifestations include plexiform neurofibromas, optic and other central nervous system gliomas, malignant peripheral nerve sheath tumors, vasculopathy, and osseous lesions. CURRENT KNOWLEDGES AND KEY POINTS: Since the original National Institutes of Health consensus Development Conference in 1987, there have been significant progress toward a more complete understanding of the molecular-bases for neurofibromatosis 1 and the routine follow-up for the care of the NF1 patients. The authors review the present data on the clinical and molecular aspects of the neurofibromatosis 1. FUTURE PROSPECTS AND PROJECTS: NF1 requires life-long management adapted to age and multidisciplinary structures are particularly well adapted to the diversity of the manifestations of this pathology. The French NF-France Network has been created in 2001 to federate the French multidisciplinary structures for neurofibromatosis and harmonize the follow-up of NF1 patients in France.

Genes, Neurofibromatosis 1↗
PubMedDate not supplied

A clue to the therapy of neurofibromatosis type 2: NF2/merlin is a PAK1 inhibitor.

BACKGROUND: Neurofibromatosis type 2 is a group of tumors caused by loss-of-function mutations of a tumor suppressor gene encoding NF2/merlin. Development of chemotherapeutics for this disease, which often threatens the life of young children, has been hampered by a limited information on the signaling function of NF2. NF2 can inhibit Ras-induced malignant transformation. However, the primary (signaling) target of NF2 in the oncogenic pathway has not been previously identified. RESULTS: Here, using a series of NF2 constructs, we show that NF2 inhibits directly the Rac/CDC42-dependent Ser/Thr kinase PAK1, which is essential for both Ras transformation and neurofibromatosis type 1 (NF1), through two separate domains. A mutant of NF2, that lacks the PAK1-inhibiting domain of 78 amino acids (NF78C, residues 447-524), fails to suppress Ras transformation. Furthermore, PAK1-specific inhibitors CEP-1347 and WR-PAK18 selectively inhibit the growth of NF2-deficient cancer cells, but not NF2-positive cells. CONCLUSIONS: These results suggest that PAK1 is essential for the malignant growth of NF2-deficient cells, and that PAK1-blocking drugs could be potentially useful forthe treatment of neurofibromatosis types 2, in addition to Ras-induced cancers and neurofibromatosis type 1.

Animals↗
PubMedDate not supplied

[Selected problems of neurofibromatosis with presentation of a case of multiple intracranial and intramedullary tumors].

A case of neurofibromatosis type II in a 19-year-old man is described with clinical and neuroimaging (MRI) findings. The diagnostic criteria of neurofibromatosis type I (NF1) and type II (NF2) and the optimal management options are still controversial. The authors suggest that this patient fulfills criteria of neurofibromatosis type II as well as partially neurofibromatosis type I. At present, without molecular analysis of DNA, this assumption can not be verified.

Adult↗
PubMed1992

Recognizing an index case of type 1 neurofibromatosis.

Neurofibromatosis is a relatively common autosomal dominant disorder with variable penetrance. The disorder usually presents in childhood. Hallmarks of type 1 neurofibromatosis are café-au-lait macules and neurofibromas. Neurologic complications include mental retardation, learning disabilities and seizures. Tumors of the eighth cranial nerve, as well as other intracranial and spinal neoplasms, are the typical lesions in type 2 neurofibromatosis. Both forms of neurofibromatosis have a highly variable course and may result in progressive neurologic deterioration, disfigurement and impingement syndromes. In the 50 percent of cases that represent new mutations, diagnosis may be delayed if the physician is not familiar with the salient features of the disorder. Thorough initial evaluation, genetic counseling and close follow-up are important aspects of management.

Bone Diseases↗
PubMed1997

[Molecular-genetic aspects of neurofibromatosis].

Two forms of neurofibromatosis, type 1 (NF1) and type 2 (NF2) are connected with genes localized on chromosomes 17 and 22, respectively. The genes that are inactivated in neurofibromatosis code for the proteins neurofibromine and merline, respectively. Since inactivation leads to neoplasia, they are called tumour suppressor genes. Neurofibromine shows resemblances to proteins that serve to inactivate oncogenes. Merline has a relationship with proteins that connect the cytoskeleton and the cell membrane. The precise function of the proteins is still unknown. The NF1 gene is characterized by extraordinarily high sensitivity to mutation; half the NF1 patients have not inherited the disease. In the familial form of neurofibromatosis, a mutated gene is inherited and the normal allele in the tumour is inactivated, making tumour growth possible. In the sporadic form of neurofibromatosis, both normal alleles are inactivated locally in the tissue so that a tumour develops in that place.

Animals↗
PubMed1989

Schwannomatosis. An unusual variant of neurofibromatosis or a distinct clinical entity?

Multiple schwannomas have frequently been seen in patients with neurofibromatosis. Recently, the association of multiple cutaneous schwannomas, central nervous system tumors, and various neurologic deficits has been described in Japanese patients as a condition called schwannomatosis. We describe the first non-Japanese cases of schwannomatosis and compare and contrast this unusual condition with the well-known variants of neurofibromatosis. We conclude that the features of schwannomatosis are distinct and define a condition that does not fit into the current classification scheme of neurofibromatosis. The occurrence of multiple cutaneous schwannomas in the absence of cardinal features of neurofibromatosis may indicate the presence of central nervous system tumors or various neurologic deficits.

Adolescent↗
PubMed2003

Clinical risk factors for mortality in patients with neurofibromatosis 1: a cohort study of 378 patients.

OBJECTIVE: To identify the main clinical features associated with mortality in patients with neurofibromatosis 1. DESIGN: Cohort study. SETTING: Referral center for neurofibromatosis. PATIENTS: Three hundred seventy-eight patients with neurofibromatosis 1 who had more than 1 year of follow-up in the center. MAIN OUTCOME MEASURES: Mortality. Clinical features, especially dermatological, were evaluated as potential factors associated with mortality. RESULTS: Factors associated independently with mortality were the presence of subcutaneous neurofibromas (odds ratio, 10.8; 95% confidence interval, 2.1-56.7; P<.001), the absence of cutaneous neurofibromas (odds ratio, 5.3; 95% confidence interval, 1.2-25.0; P =.03), and facial asymmetry (odds ratio, 11.4; 95% confidence interval, 2.6-50.2; P<.01). CONCLUSIONS: Some features that can be found by a routine clinical examination are associated with mortality in patients with neurofibromatosis 1. Clinical follow-up should be focused on patients with subcutaneous neurofibromas and/or the absence of cutaneous neurofibromas and/or facial asymmetry.

Adolescent↗