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PubMed1985

Secondary hypertension and neurofibromatosis: bilateral renal artery stenosis and coarctation of the abdominal aorta.

A 34-year-old white man with generalized neurofibromatosis was found to have severe renal vascular hypertension due to a coarctation of the abdominal aorta and bilateral renal artery stenosis with saccular aneurysms. Increased renal venous renin activity showed the active involvement of the renin-angiotensin system in maintaining the hypertension. Because the patient refused surgical treatment, antihypertensive treatment with Captopril, a specific inhibitor of the angiotensin converting enzyme was used, resulting in normal blood pressure being restored over an 18 month observation period.

Adult↗
PubMed1991

Optic gliomas in children with neurofibromatosis type 1.

Over a 24-year period, optic gliomas were found in 29 children, 16 of whom had neurofibromatosis type 1 (NF-1). These 16 children comprised 21% of all children referred for management of NF-1 and its complications. The finding of optic glioma led to the diagnosis of NF-1 in 4 children. The mean age at diagnosis of optic glioma in NF-1 children was 6.4 years, and the average estimated duration of visual symptoms prior to diagnosis was 2.1 years. Most optic gliomas in NF-1 children were ascertained because of a visual complaint (69%), and an even greater number of children (88%) had an abnormal ophthalmological examination. The optic chiasm was involved in 75% of the patients. All of the seven children with optic glioma examined by visual evoked potential had an abnormal response ipsilateral to the tumour. The majority of the children received radiation therapy. After a mean follow up period of 5.8 years no deaths had occurred due to optic glioma, but in 35% of the children vision was worse. We conclude that optic glioma is a common, serious complication in NF-1 children. Routine care of such patients should include regular noninvasive investigations aimed at detecting lesions of the optic pathway.

Adolescent↗
PubMed1993

Relationship between café-au-lait spots as the only symptom and peripheral neurofibromatosis (NF1): a follow-up study.

We re-examined 21 children with the possible diagnosis of peripheral neurofibromatosis (NF1) based on the presence of café-au-lait (CAL) spots as the single clinical finding. We evaluated whether "typical" or "atypical" appearance of the spots was important for the final diagnosis and whether the co-existence of other non-specific signs (e.g. pectus excavatum) were of any significance for the final diagnosis. In 8/14 (57.1%) cases with "typical" CAL spots, the diagnosis of NF1 was finally established on the basis of other criteria. For the other 6 patients the diagnosis is not yet definitive but highly probable on the basis of the presence of macrocephaly, pectus excavatum and/or MRI findings. Only one patient among five with "atypical" CAL spots possibly has NF1.

Brain Neoplasms↗
PubMed1994

Neurofibromatosis type 1 involving the liver: ultrasound and CT manifestations.

We present a rare case of neurofibromatosis type 1 (NF-1) involving the liver in a 15-year-old girl. Abdominal ultrasonography revealed infiltrative hypoechoic masses around the porta hepatitis and intrahepatic portal branches. CT also revealed extensive low-attenuation masses in the hepatic hilum and retroperitoneum. The tumor spread into the liver along the portal vein. It should be borne in mind that the liver may be involved by neurofibromas in patients with NF-1.

Adolescent↗
PubMed1991

Imaging considerations of central nervous system manifestations in pediatric patients with neurofibromatosis type 1.

CT and MRI were used in a prospective study of the central nervous system (CNS) manifestations in 41 consecutive children with neurofibromatosis type 1 (NF-1). Gadolinium-DTPA was used in 15 patients. MRI was more effective than CT in delimiting the extension of the optic pathway glioma and in evaluating associated cerebral malformations. MRI visualized lesions generally undetected by CT, in the form of iso- or hyperintense foci with respect to the cerebral cortex in T2-weighted sequences. Well-delimited lesions of high signal intensity were observed in the globus pallidus (22 cases), the internal capsule (6 cases), corpus callosum (2 cases), anterior commissure (1 case) and semioval center (2 cases). Poorly defined hyper- or isointense areas were also observed affecting the cerebellar white matter (21 cases) and brain stem (17 cases). None of these lesions showed Gadolinium-DTPA enhancement, and were of no clinical significance. MRI has displaced CT in the initial diagnosis of patients with NF-1. Periodic annual MRI controls are only justified in patients with MRI changes to evaluate the progression or stabilization of the lesions.

Adolescent↗
PubMed1996

Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms.

Neurofibromatosis type 1 (NF1) of von Recklinghausen is a common autosomal dominant disorder, characterized by peripheral neurofibromas, café-au-lait spots and Lisch nodules of the iris. The high mutation rate at the NF1 locus results in a wide range of molecular abnormalities. We have scanned 14 different exons from the first part of the NF1 gene using the RNA-single strand conformation polymorphism (RNA-SSCP) method in a series of 40 NF1 patients. Three novel mutations, two nonsense and one missense, and two polymorphisms have been detected in familial cases. Genotype-phenotype correlations have been investigated, but no particular association has been detected. After this screening, the majority of NF1 chromosomes has not yet been characterized, confirming the difficulty in detecting the defect underlying NF1 in most families, even following extensive DNA analysis.

Adolescent↗
PubMed1994

A deletion in the 5'-region of the neurofibromatosis type 1 (NF1) gene.

A new mutation, the first one close to the 5'-end of the neurofibromatosis type 1 (NF1) gene, was found when RNA preparations from various cell types of 15 NF1 patients were analysed by reverse transcription and subsequent multiplex polymerase chain reaction. This mutation removes the 84 bp of exon 3 precisely from the cDNA. Genomic Southern blots revealed a larger deletion with breakpoints within the introns flanking exon 3. This mutation suggests that the amino-terminal region of neurofibromin is functionally significant. When using this mutation to distinguish the wild type and mutant alleles, their expression could be analysed in neurofibroma fibroblasts, melanocytes from the unaffected skin, and those from a café-au-lait macule. In all these cell types, the products of both alleles were detected, confirming similar results obtained with a different NF1 gene mutation.

Adult↗
PubMed1996

Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas.

Meningiomas are benign tumors of the central nervous system. They are usually sporadic but can also occur associated with the neurofibromatosis type 2 (NF2) syndrome. The gene responsible for NF2, recently isolated from chromosome 22, encodes a membrane-organizing protein that shows high sequence homology to a protein family thought to link the cytoskeleton with membrane proteins. Mutations of the NF2gene have been described in sporadic meningiomas, exclusively in tumors that show loss of heterozygosity (LOH) of 22q. These preliminary results indicate that the NF2 gene is involved in the pathogenesis of at least a subset of meningiomas, where it does indeed behave as a tumor suppressor gene. In order to characterize better the role of the NF2 gene in the genesis of meningiomas we have examined the entire coding sequence of the gene in 125 meningiomas by single-strand conformational polymorphism analysis; furthermore, LOH analysis for markers of 22q has been carried out. Inactivating mutations were identified in 30% of our samples, all of which also showed LOH of 22q. The majority of mutations identified were frameshifts and nonsense mutations, which are predicted to produce a truncated or nonfunctional protein. We also found two missense and three in-frame deletions that may pinpoint specific regions of the protein critical to its function. Furthermore, the distribution of mutations throughout the gene, suggested that exons 2, 3, 5, 11 and 13 are more frequently involved. Our results reconfirm the importance of the NF2 gene in the pathogenesis of meningiomas and also suggest that there may be a nonrandom clustering of mutations throughout the gene.

Base Sequence↗
PubMed1996

Analysis of the neurofibromatosis type 2 gene in different human tumors of neuroectodermal origin.

The autosomal dominant syndrome neurofibromatosis type 2 (NF2) is characterized by the development of bilateral vestibular schwannomas, meningiomas, ependymomas and gliomas. The NF2 gene, recently isolated from chromosome 22, is mutated in both sporadic and NF2 tumors such as schwannomas, meningiomas and ependymomas. Mutations of the gene have been described not only in the neoplasms usually associated with NF2, but also in 30% of the melanomas and 41 % of the mesotheliomas analyzed. In particular, the finding of mutations in melanomas supports the hypothesis that the NF2 gene is involved in the genesis of several tumor types that arise from the embryonic neural crest. In this study we examined, by single-strand conformational polymorphism (SSCP) analysis, 41 tumors of the central nervous system (11 schwannomas and 30 gliomas), 19 melanomas and 15 Merkel cell carcinoma specimens for mutations in the coding sequence of the NF2 gene. We found three inactivating mutations of the NF2 gene in schwannomas. No alterations of the gene were detected by SSCP analysis of the other tumors. These results confirm the role of NF2 in pathogenesis of schwannomas, but do not define its significance in the genesis of the other neuroectodermal tumors studied.

Central Nervous System Neoplasms↗
PubMed1998

Type II neurofibromatosis presenting as quadriceps atrophy.

A young woman aged 26 years presented with atrophy of the left quadriceps progressing over one year. Magnetic resonance imaging (MRI) showed a large lesion of the lumbar plexus compatible with neurinoma. Cerebral MRI revealed a lesion in the right eighth cranial nerve also compatible with neurinoma. On further questioning of the patient, it was learned that her mother had undergone surgery twice for acoustic neurinoma. Type II neurofibromatosis was diagnosed from the basis of clinical picture, neuroimaging findings and family history. This case is unusual for the lack of central nervous system (CNS) symptoms. Expansive radicular lesions compatible with neurinoma should prompt cerebral MRI. Regular examination of family members at risk and early diagnosis can decrease the high mortality associated with this condition.

Adult↗
PubMed1980

The pathophysiology of neurofibromatosis. I. Resistance in vitro to 3-nitrotyrosine as an expression of the mutation.

The in vitro expression of the autosomal dominant mutation responsible for neurofibromatosis was probed using the amino acid analogue 3-nitrotyrosine as a cell culture selective agent. The presence of 3-nitrotyrosine in culture medium led to inhibition of growth and cell death among normal skin fibroblasts in log phase growth, whereas cell strains derived from six different patients' neurofibromas or skin cells, or both, exhibited a consistently enhanced ability to survive under the same conditions. At 0.8 mM 3-nitrotyrosine, four patient-derived skin fibroblast strains could be differentiated from five strains of control skin fibroblasts with a high level of confidence (P < 0.0000). In the same way four neurofibroma-derived fibroblast strains were differentiated from control skin fibroblasts (P < 0.0022). Neurofibroma-derived cells were not different from control cells when treated with 5-fluorotryptophan or p-fluorophenylalanine.

Adolescent↗
PubMed2005

Lumbar region intra-spinal primitive neuroectodermal tumour (PNET) combined with neurofibromatosis type 1.

Primitive neuroectodermal tumours (PNET) are aggressive neoplasias that are diagnosed, usually, in infancy. Their appearance in adulthood is rare and, exceptionally, in association with neurofibromatosis type I (NF-1). We present a case of a 37 year-old man with NF-1 combined with PNET in the intra-arachidial lumbar region. Diagnosis was by Nuclear Magnetic Resonance (NMR) and biopsy of soft tissue mass which showed a PNET with undifferentiated round cells and immunohistochemically positive for CD99, neurone-specific enolase, synaptophys in and LEU-7. Surgery was performed with spine decompression and resection of 80% of the tumour, with symptoms improvement. Radiotherapy was administered on the lumbosacral column, but only up to 30 Gy because of severe actinic enteritis and pan-cytopenia grade III. Six months later, the patient was hospitalized with deterioration in his overall clinical status with multi-organ involvement. The patient died and an autopsy was performed. The initial treatment of the PNET is surgery and, if possible, the radical extirpation of the tumour. Administration of radiotherapy and chemotherapy appears to increase survival. We comment on the clinical, histological, cytological and immunohistochemical aspects together with a review of the literature. To the best of our knowledge this is the first documentation of such a case.

Adult↗
PubMed2000

Extensive gliomas of visual tract in a patient of neurofibromatosis-I.

Although bilateral optic nerve gliomas are commonly found in patients with neurofibromatosis I, extensive gliomas involving the entire visual tracts, bilaterally are relatively rare. Usually the optic radiations are spared. We report a case of a 2-year-old child with extensive disease of bilateral visual pathways with involvement of the hypothalamus manifesting as obesity.

Child, Preschool↗
PubMed1995

Epidural analgesia for labour in a parturient with neurofibromatosis.

The first report of epidural analgesia for labour in a 26-yr-old woman with von Recklinghausen's neurofibromatosis is described. Epidural anaesthesia is often considered as contraindicated because neurofibromas may involve spinal cord and nerve roots. However, general anaesthesia was considered at high risk for this parturient on the basis of her previous medical and surgical history and of physical findings. The present observation suggests that epidural analgesia may be used in such circumstances provided that spinal cord neurofibromas have been ruled out by clinical and CT scan (or magnetic resonance imaging) examination.

Adult↗
PubMed2003

Malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1.

We report 4 cases of malignant peripheral nerve sheath tumors (MPNST) with neurofibromatosis type 1 (NF1). Mean age was 29.5. Two of them had a family history. Three of them were male. All of them had enlarging mass and pain in the background of neurofibromas. Locations were popliteal, thigh and forearm. The masses were greater than 5 cm in diameter in each case. In two cases the mass was showing continuity with a nerve. One patient had a nonossifying fibroma as well as a MPNST. Wide excision and radiotherapy were applied to three of the patients. One of them did not take any therapy after surgical resection. Two of the patients died of lung metastases after a mean period of 12.5 months. In a majority of NF1 patients MPNST emerges from a preexisting neurofibroma. The patients with NF1 are at greatest risk for developing sarcomas, so they should be followed closely.

Adult↗
PubMed1997

[Oral, facial and cranial manifestations of von Recklinghausen neurofibromatosis (NF)].

19 patients with neurofibromatosis (NF) type 1 were evaluated retrospectively. Many patients presented not only with orocraniofacial neurofibromas but also with cranial skeletal deformities--involving skullbase, skull, orbit, midface and mandibula--and ophthalmological and dental symptoms, as well as neurological disorders. Malignant transformation of NF was observed in 1 case. Severe manifestations of NF were associated with the plexiform growth type. Due to the nature of NF surgical treatment most often is only palliative.

Adolescent↗
PubMed1995

[Von Recklinghausen neurofibromatosis and dermal melanocytic nevi].

Neurofibromas, café au lait macules and freckles in the axillary or inguinal regions are common manifestations of von Recklinghausen's neurofibromatosis (NF-1). Less known is the simultaneous appearance of dermal melanocytic naevi. We describe the case of a 21-year-old Vietnamese woman who showed generalized, multiple neurofibromas, a solitary plexiform neurofibroma in the left gluteal region and Lisch nodules. In addition, there were several large grey-blue macules histologically characterized by fusiform pigment-bearing cells in the dermis, which we diagnosed as persistent aberrant mongolian spots. In the right zygomatic region she presented a grey-blue, hair-bearing macule, which we saw as a variant of Ota's naevus. A genetic background for this coincidence of a systemic with a local phakomatosis can be supposed, as both Schwann's cells and melanocytes are derived from the neural crest. Such pathologic rearrangement in the embryogenesis of the cellular elements could be important for the pathogenesis of NF-1 and dermal melanocytic nevi.

Adult↗