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At least 685 records · Page 38Linked to original sources
PubMed1989

[Spinal changes in neurofibromatosis in children].

A systematic radiologic study of the skeletal system of 72 children with different forms of neurofibromatosis (NF) revealed a high proportion of spinal defects. Scoliosis was found in 46%, anomalies of the vertebrae in an even higher percentage, particularly cleft spine in 25%, wedge-shaped vertebrae in 22% and scalloping of vertebrae in 40%. Radiographic examination of children with even minimal signs of NF was helpful in confirming the diagnosis, staging of patients and obtaining additional hints in regard to the long term prognosis of children with neurofibromatosis.

Adolescent↗
PubMed1987

[Neurofibromatosis and multiple nonossifying bone fibromas].

Three patients with a combination of neurofibromatosis and multiple non-ossifying fibromas are presented. All patients possessed multiple osteolytic lesions with sclerotic margins, resembling non-ossifying fibromas. Two patients showed similar lesions in additional localizations. In two patients, non-ossifying fibroma was histologically verified. The simultaneous occurrence of neurofibromatosis and multiple non-ossifying fibromas can possibly be put down to a generalized mesodermal dysplasia. However, the definite explanation is unknown.

Adolescent↗
PubMed1986

[Computer tomography findings of orbital changes within the scope of juvenile neurofibromatosis].

The computerized tomography of 9 cases of neurofibromatosis is compared with routine X-rays. Gliomas of the optic nerve, sphenoidal dysplasias, plexiform neurofibromas and buphthalmos are shown in detail. CT today is an indispensable procedure for the diagnosis of neurofibromatosis of the orbit. Often it is up to the ophthalmologist to initiate CT in collaboration with other disciplines. This holds for diagnosis, surgical interventions and the follow-up examinations.

Adolescent↗
PubMed1984

[Typical computed tomographic findings in neurofibromatosis].

Three patients with neurofibromatosis (Recklinghausen's disease) were examined by computer tomography. In this way, the exact extent and localisation of the neurofibromatous tumours could be demonstrated. In one patient, CT provided evidence of malignant change; this was verified histologically. The appearances of neurofibromatosis associated with elephantiasis is described. In each patient, treatment was significantly influenced by computer tomography.

Adolescent↗
PubMed1993

[Involvement of the lungs in neurofibromatosis].

Two patients, a 66-year-old man (case 1) and a 55-year-old woman (case 2), had been known (for 40 and 35 years, respectively) to have type 1 neurofibromatosis. Dyspnoea, recently even at rest, had developed in both over the past few years. Both were emaciated (weight 62 kg, height 180 cm; 42 kg, 166 cm, respectively). In both the chest radiography had net-like increased interstitial markings. Computed tomography in case 1 showed largely subpleural small-blister-like changes bilaterally (honeycomb lung), while there were large apical cysts bilaterally in case 2. Lung function tests demonstrated restrictive changes in case 1 (vital capacity 48% of norm, relative one-second capacity 88%) and severe ventilation abnormality in case 2 (vital capacity 42% of norm, relative one-second capacity 47%). Both had marked hypoxaemia even at rest and the walking limit was 200 m in case 1, 40 m in case 2. The pulmonary changes were most likely manifestations of the neurofibromatosis. Symptomatic treatment consisted of long-term oxygen therapy with a portable liquid oxygen system (flow rate: 1-2 l/min at rest and 3-5 l/min on exercise; duration: 24 h/d). This achieved a walking distance without hypoxaemia of 500 and 200 m, respectively, with marked improvement in the patients' condition.

Aged↗
PubMed1985

[Neurofibromatosis and the development of neurofibrosarcoma simulating Baker's cyst].

A 39-year-old female patient with familiar neurofibromatosis developed a sarcoma in the hollow of the knee that appeared clinically and sonographically as a Baker cyst. Following an operation to remove the tumour and subsequent local radiation treatment multiple metastases appeared distant to the primary tumour from which the patient died. On the observation of a Baker cyst in a patient with neurofibromatosis the possibility of malignant degeneration must be kept in mind and an operation carried out immediately.

Adult↗
PubMed1987

Congenital disseminated neurofibromatosis: a "benign" diagnosis with malignant prognosis.

A neonate with congenital disseminated neurofibromatosis involving skin, subcutaneous tissues retropharyngeal, retroperitoneal and urinary bladder is presented. The massive presentation precluded radical surgical approach. This seems to be the first report of congenital widely disseminated neonatal neurofibromatosis in the English literature.

Abdominal Neoplasms↗
PubMed1996

A naturally occurring T14A11 tract blocks nucleosome formation over the human neurofibromatosis type 1 (NF1)-Alu element.

The nature of chromatin organization over Alu repetitive elements is of interest with respect to the maintenance of their transcriptional silencing as well as their potential to influence local chromatin structure. We previously demonstrated that the pattern of nucleosomal organization over Alu elements in native chromatin is specific and similar to the pattern observed with an in vitro reconstituted Alu template. This pattern, distinguished by a nucleosome centered over the 5 -end of the Alu element, is associated with repression of polymerase III-dependent transcription in vitro (Englander, E. W., Wolffe, A. P., and Howard, B. H. (1993) J. Biol. Chem. 268, 19565-19573; Englander, E. W., and Howard, B. H. (1995) J. Biol. Chem. 270, 10091-10096). In the current study, additional templates representing both evolutionarily old and young Alu subfamilies were found to direct a similar pattern of nucleosome assembly, consistent with the view that nucleosome positioning in vitro is shared by a majority of Alus. We discovered however, that the specific nucleosome positioning pattern was disrupted over one member of a young Alu subfamily, which recently transposed immediately downstream to a T14A11 sequence in the neurofibromatosis type 1 locus (Wallace, M. R., Andersen, L. B., Saulino, A. M., Gregory, P. E., Glover, T. W., and Collins, F. S. (1991) Nature 353, 864-866). Upon removal of this sequence motif, the expected pattern of assembly was restored to the neurofibromatosis type 1-Alu template. This finding indicates that, at least in vitro, certain sequences can override the propensity for positioning nucleosomes that is inherent to Alu elements. The finding also raises the possibility that a similar situation may occur in vivo, with potential implications for understanding mechanisms by which certain Alu elements may evade chromatin-mediated transcriptional silencing.

Animals↗
PubMed1998

Neurofibromatosis type I and unilateral ophthalmic artery occlusion.

Etiological investigation of a 15-year-old boy with left ophthalmic artery occlusion led us to a diagnosis of neurofibromatosis type I as there were numerous large cafe-au-lait spots, axillary freckling, and brain MRI changes consistent with a hamartoma. In light of the present case, ophthalmic artery occlusion may be a rare feature of neurofibromatosis type I besides more commonly described cerebrovascular changes.

Adolescent↗
PubMed1996

MRI and nonverbal cognitive deficits in children with neurofibromatosis 1.

Magnetic resonance imaging brain scans and neuropsychological assessments of 17 children who met the NIH consensus diagnostic criteria for neurofibromatosis Type 1 were carried out in order to determine if there is a relationship between presence of high intensity signal abnormalities on MRI scans and nonverbal cognitive deficits. Cranial MRI scans in 10 patients (58.8%) demonstrated high intensity signal abnormalities, most frequently in the cerebral peduncles. Fifteen patients had nonverbal cognitive deficits (88.2%), including difficulty judging the orientation of lines, matching complex visual stimulus configurations, recalling pictures of faces, as well as copying and drawing from memory a complex geometric figure. There was not a significant association between nonverbal neuropsychological deficits and presence of high intensity signal abnormalities on MRI scans, possibly because the location of these hyperintense abnormalities was typically below the level of the basal ganglia. These findings suggest that the high intensity signal lesions seen on the MRI scans of children with neurofibromatosis Type 1 do not predict or explain their nonverbal cognitive deficits.

Adolescent↗
PubMed2005

Management of the patient and family with neurofibromatosis 2: a consensus conference statement.

A consensus conference on neurofibromatosis 2 (NF2) was held in 2002 at the request of the United Kingdom (UK) Neurofibromatosis Association, with particular emphasis on vestibular schwannoma (VS) surgery. NF2 patients should be managed at specialty treatment centres, whose staff has extensive experience with the disease. All NF2 patients and their families should have access to genetic testing because presymptomatic diagnosis improves the clinical management of the disease. Some clinical manifestations of NF2, such as ocular abnormalities, can be detected in infancy; therefore, clinical screening for at-risk members of NF2 families can start at birth, with the first magnetic resonance (MRI) scan at 10-12 years of age. Minimal interference, maintenance of quality of life, and conservation of function or auditory rehabilitation are the cornerstones of NF2 management, and the decision points to achieve these goals for patients with different clinical presentations are discussed.

Adult↗
PubMed2005

Islets of meningioma in an acoustic schwannoma in a patient with neurofibromatosis-2: pathology and magnetic resonance imaging findings.

Mixed tumors of the cerebellopontine angle, composed of meningioma and schwannoma components, are extremely rare; so far, only 12 cases have been reported in the literature. They are thought to be exclusively associated with neurofibromatosis-2. We present a mixed tumor of schwannoma and meningioma in a patient with neurofibromatosis-2 and discuss the pathology and magnetic resonance imaging (MRI) findings in relation to the literature. Review of the literature shows that a typical MRI pattern has not been established for mixed tumors and it seems unlikely that a meningioma component can be differentiated within a schwannoma preoperatively.

Adolescent↗
PubMedDate not supplied

Plexiform neurofibroma in type 1 neurofibromatosis.

A 13-year-old African-American girl was admitted to the hospital for surgery. She was diagnosed with Type I neurofibromatosis at the age of 1 year after she was noted to have multiple café au lait spots. Her past medical history included a history of neurofibroma in the base of the brain, treated with radiation therapy and ventriculoperitoneal shunt, as well as a recent diagnosis of bilateral optic gliomas, treated with chemotherapy. Family history was negative for neurofibromatosis.

Abdominal Neoplasms↗
PubMed2001

Epidural haematoma after dural puncture in a parturient with neurofibromatosis.

A case of epidural analgesia in a parturient with neurofibromatosis (von Recklinghausen's disease) complicated by dural puncture and epidural haematoma is described and the management of the case is discussed. The case emphasizes the need for antenatal assessment of parturients with neurofibromatosis in order that the necessary investigations can be arranged and informed consent for analgesia and anaesthesia can be obtained.

Adult↗
PubMed1986

Macromelanosomes in the early diagnosis of neurofibromatosis.

Skin biopsies of café-au-lait macules from 34 patients with a clinical diagnosis of classical neurofibromatosis were examined histologically and ultrastructurally to determine the presence or absence of macromelanosomes in the epidermal melanocytes and keratinocytes. Sixteen of the 34 patients had macromelanosomes. The presence of macromelanosomes varied with age and ethnic background; they were detected in nine of 12 Whites, six of 10 persons of mixed ancestry, and one of two Blacks. In these populations skin biopsy is useful in early diagnosis of neurofibromatosis. However, none of 10 persons of Indian stock had macromelanosomes. Their total absence in this group may be indicative of genetic heterogeneity.

Child↗
PubMed1993

Bilateral pheochromocytoma-ganglioneuroma of the adrenal in type 1 neurofibromatosis.

A 61-year-old woman with café-au-lait pigmentation and severe cutaneous neurofibromatosis type I was noted to have persistent hypertension after coronary artery bypass grafts. Clinical investigation revealed bilateral adrenal medullary tumors. The patient did not have a duodenal lesion or gastrointestinal symptoms. Histologic examination showed both tumors to be composed of typical pheochromocytoma with large areas of ganglioneuroma (compound or composite pheochromocytomas). The neuromatous foci contained areas of cystic degeneration and thick-walled vessels. The ganglion cells and neuromatous areas were negative for chromogranin, glial fibrillary acidic protein, synaptophysin and vasoactive intestinal peptide. The typical pheochromocytomatous areas were strongly immunopositive for chromogranin and synaptophysin. Bilateral classic pheochromocytomas are rare in type 1 neurofibromatosis, and we believe that bilateral composite pheochromocytomas are an extension of this association.

Adrenal Gland Neoplasms↗
PubMed1982

The management of orbitofacial neurofibromatosis.

Neurofibromatosis is a rare inherited disease that may present as facial hamartoma or as a more generalized disease with subcutaneous tumors, skin pigmentation in the form of café-au-lait patches, and multiple pedunculated neurofibromas on a narrow skin base. The generalized form of the disease is named after von Recklinghausen, who described its main features in 1882. In this paper, we restrict ourselves to a discussion of the craniofacial manifestation of the disorder and also report our experience in treating 2 patients with orbitofacial neurofibromatosis at the Rambam Medical Center in Haifa.

Child, Preschool↗
PubMed1997

Gigantic neurofibromatosis of the orbit.

A case of gigantic orbital neurofibromatosis (2,500 gm) is presented. It is believed to be the largest such tumor reported since the famous elephantiasis neurofibromatosis pictured in von Bruns' Chirurgischer Atlas in 1857.

Adolescent↗