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PubMedDate not supplied

[Evolution of the growth of multiple intracranial tumors in a case of type 2 neurofibromatosis].

A sporadic case of neurofibromatosis type 2 in a 23-year old woman is described with clinical and neuroimaging (CT or MRI) 4 years follow-up. Together with bilateral acoustic tumours multiple intracranial tumours and solitary orbital meningioma were present, the latter being confirmed surgically and histopathologically. Ocular findings of congenital cataract but lack of other external stigmata of neurofibromatosis completed the clinical picture of the disease. Diagnostic criteria of NF2, difficulties in establishing the optimal management options are described and the importance of evaluating of family members is underlined. Neuroimaging pictures showed tumour expansion over 4 years leading to severe disability with total blindness, deafness, paresis and cerebellar syndrome.

Adult↗
PubMed1994

An anti-Ras function of neurofibromatosis type 2 gene product (NF2/Merlin).

Previously, we have cloned a candidate for the 595-amino acid neurofibromatosis type 2 tumor suppressor called NF2 or Merlin, with striking sequence similarity in its N-terminal half to an F-actin-binding protein family called TERM, which includes talin, ezrin, radixin, and moesin (Trofatter, J. A., MacCollin, M. M., Rutter, J. L., Murrell, J. R., Duyao, M. P., Parry, D. M., Eldridge, R., Kley, N., Menon, A. G., Pulaski, K., Haase, V. H., Ambrose, C. M., Munro, D., Bove, C., Haines, J. L., Martuza, R. L., MacDonald, M. E., Seizinger, B. R., Short, M. P., Buckler, A. J., and Gusella, J. F. (1993) Cell 72, 791-800). In an attempt to determine whether NF2 serves as a tumor suppressor and if so whether its N-terminal half is involved in its anti-oncogenicity, both full-length NF2 and its N-terminal half (NF2-N, residues 9-359) have been expressed in v-Ha-Ras-transformed NIH/3T3 cells. Like neurofibromatosis type 1 (NF1) fragments (Nur-E-Kamal, M. S. A., Varga, M., and Maruta, H. (1993) J. Biol. Chem. 268, 22331-22337), full-length NF2 can reverse the Ras-induced malignant phenotype, i.e. anchorage-independent growth in a soft agar, and restore contact inhibition of cell growth, indicating that NF2 is indeed a tumor suppressor. Furthermore, NF2-N also suppresses the Ras-induced malignant phenotype, although it appears to be less effective than the full-length NF2. These observations indicate that the anti-Ras function of NF2 resides in part in its N-terminal half. Thus, NF2 appears to be a new member of the tumor suppressor family of actin-cytoskeleton-associated proteins, which includes vinculin, alpha-actinin, tropomyosin-1, gelsolin, and tensin.

3T3 Cells↗
PubMed1975

Arterial hypertension and neurofibromatosis: renal artery stenosis and coarctation of abdominal aorta.

A 10-year-old girl had arterial hypertension, generalized neurofibromatosis, coarctation of the abdominal aorta and multiple stenoses at the origin of each renal artery. After resection of the stenotic areas and reimplantation of the renal arteries in the aorta, her arterial pressure decreased substantially. However, hypertension recurred and radiologic follow-up 4 1/2 years later showed distinct progression of the coarctation and renewed stenosis of all renal arteries at their origin. The stenotic areas showed eccentric intimal proliferation, frequently bulging into the lumen, with small nodular aggregates of smooth muscle cells and proliferation of fibrous tissue containing spindle-shaped nuclei in a palisading pattern. Hypertension associated with neurofibromatotic vascular disease has been described in 47 other patients in the literature. These patients have been young (mean age, 14 years) and predominantly male. In contrast to fibromuscular dysplasia, in which 95% of all stenoses are found in the distal two thirds of the renal arteries, in vascular neurofibromatosis more than 50% of the stenoses are found at the origin.

Adolescent↗
PubMed1975

[Changes in the kidney in a case of neurofibromatosis (author's transl)].

In a case of an 18-yr-old girl with generalized neurofibromatosis there was an unilateral hydronephrosis due to polypoid neurofibromas in the ureter and urinary bladder. In the kidney were interstitial neurofibromas, a great number of dysontogenetic adenomas and also neurofibromatosis of the vessels.

Adenoma↗
PubMed1976

Pelvic neurofibromatosis.

A case of asymptomatic and previously undiagnosed neurofibromatosis which presented with clitoral enlargement, "cafe-au-lait" spots, and pelvic masses is described. The literature on neurofibromatosis as it involves the female genital tract is reviewed.

Adolescent↗
PubMed1976

Studies on café au lait spots in neurofibromatosis and pigmented macules of nevus spilus.

Café au lait spots from 14 Japanese patients with neurofibromatosis and nevus spilus from 9 Japanese patients were subjected to the studies on the differences in nature of their melanocytes. When the number of melanocytes of the pigmented lesions was compared with that of the surrounding normal skin, the former was always increased and that of café au lait spot was higher than that of nevus spilus. Giant pigment granules were recognized only in 6 patients out of 14 with neurofibromatosis but not in nevus spilus examined. 2 days after UV irradiation at 4 MED, the number of melanocytes was increased in both surrounding normal skin and pigmented lesion, and the rates of increase were lower in the pigmented lesion. Under the electron microscope, melanocytes in café au lait spots which received an ultraviolet light irradiation showed various changes in their cytoplasm; a development of dendrites containing many mature melanosomes, an increased number of cytoplasmic vacuoles and mitochondria, a development of Golgi apparatus in their cytoplasm, appearances of some dense-bodies and of autophagosomal melanosome-complexes. In nevus spilus, the same kind of changes occurred, but they were moderate compared with those developed in café au lait spots. Melanosomes in the keratinocytes of café au lait spots tended to come together around the nucleus and to form melanosome-complexes; while, melanosomes in the keratinocytes of nevus spilus seemed to be single-dispersed after irradiation. The causative factors of the hyperpigmentation and the different reactivity of melanocytes against UV irradiation in these two pigmented macules were discussed.

Adult↗
PubMed1976

[Congenital skull changes in Recklinghausen's neurofibromatosis].

Congenital skull changes in neurofibromatosis are uncommon. Maybe for this reason, they are often misinterpreted, consequently resulting in expensive examinations and unnecessary treatments. However, if correctly evaluated, the corresponding radiological findings represent characteristic and pathognomonic signs of the disease. Three cases of neurofibromatosis are reported, the symptoms presented in detail and the pertinent differential diagnosis discussed.

Adolescent↗
PubMedDate not supplied

[Pathological complications in 46 cases of neurofibromatosis in children (author's transl)].

Pathological type complications associated with 46 cases of neurofibromatosis in children under 12 are reported. It is noted that in 65.2% of the cases there are mental retardation, usually serious. More than 50% (24 cases) had some type of tumoration. All were benign with the exception of a suprarenal neuroblastoma that caused arterial hypertension and histological characteristics of malignancy. Fifteen tumors were located in the optica ways, one in the mediastinum, one in the abdomen, one in the paravertebral area, one which was a craneal plexiform tumor and four of the moluscum pendulum type on the eyelids or in neighbouring regions. Twelve children suffered from some type of seizures (Salaam's spasms, tonic-clonic, myoclonic, atonic and versive). Radiological abnormalities were very frequent in the simple X rays as well as in those in which contrast medium was used. In four cases malformations of the midline were observed, three of which were non-communicating cysts of the septum pellucidum, the other agenesis of the corpus callosum. Neurofibromatosis was further seen associated iwth Bourneville's syndrome, Morquio's syndrome, Batten's type of lipofuscinosis, facial or generalized hemihypertrophia and stenosis of the aqueduct. Heredity was dominant autosomic in 16 cases, the rest being due to possible recent mutations.

Child↗
PubMed1993

[Ganglioneuroma in the cervical ganglion with neurofibromatosis-2: a case report].

The authors report a case of a 20 year old male with ganglioneuroma in the cervical ganglion. The patient was complaining of a mass in the neck on his right-hand side, and neurological examination revealed hypesthesia on the C5 area of the same side. Computed tomography and magnetic resonance imaging scan showed extradural dumbbell-shaped tumor from C3 to C5 levels. A two-staged operation was performed to remove the tumor totally, and a ganglioneuroma was diagnosed. After surgery, he complained of facial weakness and hearing disturbance on the left side. As MRI scan revealed bilateral cerebro-pontine angle tumors, he was diagnosed as having neurofibromatosis-2. This report may represent a rare case of ganglioneuroma with neurofibromatosis-2.

Adult↗
PubMedDate not supplied

[Neurofibromatosis with laryngeal involvement].

The clinical features of a new case of Von Recklinghausen's neurofibromatosis affecting the larynx, are described. The patient was a three year old boy presenting with hoarseness. The diagnostic and therapeutic features, and the clinical course are described. This is another patient with neurofibromatosis, including laryngeal involvement, to be added to the 26 such cases already described in the world literature. It is the eleventh laryngeal plexiform neurofibroma described. The relevant literature is reviewed.

Child, Preschool↗
PubMed1993

[Secondary arterial hypertension in type I neurofibromatosis (NF-1). Findings in 6 patients].

With the aim to analyze the association of Type I Neurofibromatosis with secondary arterial hypertension, a retrospective study has been performed on 36 patients, diagnosed of pheochromocytoma (n = 12) and/or renal artery stenosis (n = 25), finding in 6 of them diagnostic criteria of Type I neurofibromatosis, of these 4 showed pheochromocytoma, 1 renal artery stenosis and 1 pheochromocytoma plus renal artery stenosis. CAT and angiography were the best diagnostic imaging methods to confirm clinic and biological suspicion of adrenal tumor of renal artery stenosis. It is recommended the systematized study of patients with NF-1 together with their relatives who phenotypically show some illness stigma, or with arterial hypertension resistant to conventional treatment.

Adolescent↗
PubMed1993

[Malignant melanoma of the choroid associated with neurofibromatosis].

A sixteen-year-old white girl with peripheral neurofibromatosis (NF1), who had been treated for a glioma of the optic nerves and chiasma developed a choroidal mass in her only functional eye. After a transchoroïdal biopsy, the pathologic examination disclosed a choroïdal melanoma of epithelioid cell type, using morphological criteria as well as an immunohistochemical study. After treatment with a ruthenium plaque, the tumor completely regressed over 4 months. According to the data of the literature, neurofibromatosis seems to predispose to the development of uveal melanomas.

Adolescent↗
PubMed1995

Complex congenital heart disease, microcephaly, pheochromocytoma and neurofibromatosis type I in a girl born from consanguineous parents.

The female proband, from Turkish extraction was the fifth liveborn child of a 24-years-old mother and a 25-years-old father. Her parents as well as her two older sisters and her two older brothers were phenotypically normal. Parents were first cousins. At birth a complex cardiac defect was diagnosed (tricuspid atresia, hypoplasia of the pulmonary artery, dextroposition of the aorta, ventricular septal defect and auricular septal defect) for which she was operated on in 1976, 1983 and 1984. When she was 20 years old, latero aortic pheochromocytoma was diagnosed. At physical examination she had microcephaly (-3DS), mild dysmorphia: long pyramidal nose, short philtrum, short fingers and toes and scoliosis and 6 "café-au-lait" macules suggesting neurofibromatosis, type I. Complex congenital heart defect, microcephaly and pheochromocytoma in a patient with neurofibromatosis type I born from consanguineous parents might be a new association.

Abnormalities, Multiple↗
PubMedDate not supplied

Mixed cranial nerve tumors in neurofibromatosis type 2.

Five cerebellopontine angle tumors from four patients with neurofibromatosis (NF) are described. Three were surgical resection specimens from patients with NF2 and two were removed at autopsy from a fourth patient who appears to have had a variant of NF2. On microscopy the three biopsy specimens appeared to be histologically mixed tumors: although they were predominantly typical benign schwannomas, the tumors also contained islands of meningioma, the two tumor types being closely intermingled. In our fourth patient, consecutive decalcified sections of the tumors in the petrous temporal bones revealed florid arachnoidal proliferation around both schwannomas. This had resulted in the formation of multiple "micromeningiomas", some of which had become partially incorporated into the tumor. There are a few previously reported examples of mixed schwannoma-meningiomas in the literature. Possible mechanisms for such a mixed tumor are discussed: the most likely explanation for the appearances in cases of apparently mixed vestibular nerve tumors is that reactive meningeal changes adjacent to the tumor are responsible. Arachnoidal proliferation appears to be more exuberant in bilateral acoustic neurofibromatosis than in sporadic acoustic schwannomas, possibly the result of a disease-related growth factor.

Adult↗
PubMed1995

[Occlusive hydrocephalus as a complication of von Recklinghausen's neurofibromatosis--case report].

Phacomatoses are hereditary disease caused by germinative matrix disorder. Apart from known proliferative and tumor processes on peripheral nerves and their roots which make up a familiar picture of this disease to all neurologist, other tissue and organ malformations of octo and mesodermal origin may occur. This is a case report of a girl with neurofibromatosis type I after Riccardi with occlusive hydrocephalus complication. We pointed to a great number of neurofibromatosis complications, their prompt detection and treatment.

Adolescent↗
PubMedDate not supplied

[Multiple sclerosis and neurofibromatosis 1].

A patient with recurrent-remittent multiple sclerosis associated with neurofibromatosis type I is described. The case is interesting for two reasons: 1) the difficulty of evaluating MRI findings, since both entities involve similar anomalies and 2) the relation between the two entities, according to evidence from recent genetic studies showing that the myelin protein gene associated to oligodendrocytes is part of an intron of the neurofibromatosis-1 gene of chromosome 17.

Adult↗
PubMedDate not supplied

Giant cell tumor of the occipital bone in a case of von Recklinghausen neurofibromatosis.

Von Recklinghausen neurofibromatosis (NF1) is the most common hereditary syndrome predisposing to neoplasia. The most common symptomatic manifestation of NF1 is the plexiform neurofibroma. We describe the case of a patient with classical von Recklinghausen neurofibromatosis presenting with a giant cell tumor (GCT) of the occipital bone infiltrating a surrounding plexiform neurofibroma.

Adult↗
PubMed1996

Gain of 17q24-qter detected by comparative genomic hybridization in malignant tumors from patients with von Recklinghausen's neurofibromatosis.

The genetic changes leading to the development of malignant peripheral nerve sheath tumors (MPNSTs) are largely unknown. The few tumors that have been investigated cytogenetically had highly complex karyotypes and no consistent rearrangements, and the attempts to pinpoint consistent DNA-level changes have met with only limited success. We used comparative genomic hybridization to analyze seven MPNSTs and one dermatofibrosarcoma protuberans from eight patients with von Recklinghausen's disease (neurofibromatosis type 1), as well as three sporadic MPNSTs. Gains and losses of DNA sequences were found in all tumors, with an average of four losses (range, 0-14) and two gains (range, 0-5) per tumor. Two striking observations were made: (a) an increase in copy number of the distal part of the long arm of chromosome 17, with the smallest region of overlap 17q24-qter, was seen in five of seven MPNSTs and in the only dermatofibrosarcoma protuberans, all of which were from patients with neurofibromatosis, whereas none of the three sporadic MPNSTs had this alteration; and (b) loss of 13q, with the smallest region of overlap 13q14-q21, was found in 6 of 10 MPNSTs. The consistent involvement of these two chromosomal regions probably reflects two different pathogenetic mechanisms for MPNSTs.

Chromosome Deletion↗