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PubMed1996

A clinical, genetic and audiological study of patients and families with unilateral vestibular schwannomas. I. Clinical features of neurofibromatosis in patients with unilateral vestibular schwannomas.

Ninety-three patients with unilateral vestibular schwannomas were examined in a clinical, genetic and audiological study, to determine whether they had features associated with neurofibromatosis Type 1 or neurofibromatosis Type 2. In 91 families, one patient only was found to be affected with a unilateral vestibular schwannoma. Patients did have a few café-au-lait macules, but fewer than six in number. None of the patients satisfied the cutaneous diagnostic criteria for neurofibromatosis Type 1. Neither Lisch nodules nor presenile posterior subcapsular lenticular opacities or cortical opacities were a feature. Five patients with unilateral vestibular schwannomas are described where the clinical findings raised the possibility of neurofibromatosis Type 2. It is suggested that certain individuals with unilateral vestibular schwannomas are at risk of developing neurofibromatosis Type 2. Furthermore, the possibility of neurofibromatosis Type 2 should be considered if more than one individual in a family is found to be affected with a unilateral vestibular schwannoma.

Adolescent↗
PubMed1993

No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families.

A linkage analysis has been performed on 6 two-generation families with classical Noonan syndrome to determine whether the syndrome is linked to neurofibromatosis type 1 on chromosome 17q or to neurofibromatosis type 2 on chromosome 22q. A significantly negative location score was obtained between 10 cM centromeric to and 15 cM telomeric from the neurofibromatosis type 1 locus. A significantly negative lod score was obtained with a marker mapping within the region where neurofibromatosis type 2 is thought to be located. These data indicate that Noonan syndrome is not tightly linked to either neurofibromatosis type 1 or type 2.

Chromosome Mapping↗
PubMed1991

[Genetics of neurofibromatosis: recent progress and prospects].

Two forms of neurofibromatosis are currently described. Von Reckinghausen Neurofibromatosis (NF 1) is the classic and common form, recently localised to chromosome 17. Neurofibromatosis type 2 (NF 2) or bilateral acoustic Neurofibromatosis, formerly the "central form" of von Reckinghausen disease, is characterized by multiple brain tumors, most often bilateral acoustic neuromas. The NF 2 mutation lies on the long arm of chromosome 22. The two forms predispose to benign or malignant familial tumors, derived from neural crest germ lines, such as Schwann cells. Rapid progress in the understanding of mechanisms underlying neurological tumor formation is expected in these inherited diseases. Molecular biology will allow the precise identification of genes responsible for the neurofibromatose syndromes. Practical applications, such as screening of individuals at risk for the disease will soon be available. Medical follow-up and genetic counselling should improve as a result of these advances.

Genes, Neurofibromatosis 1↗
PubMed2001

Quality-of-life impairment in neurofibromatosis type 1: a cross-sectional study of 128 cases.

BACKGROUND: Neurofibromatosis type 1 affects quality of life (QoL) through association with severe complications, impact on cosmetic features, and uncertainty of the effects of the disorder. OBJECTIVE: To evaluate the impact of the severity and visibility of neurofibromatosis type 1 on QoL. DESIGN: Monocenter, cross-sectional study. SETTING: One French academic dermatological and neurofibromatoses clinic. PATIENTS: A total of 128 adult patients with neurofibromatosis type 1. MAIN OUTCOME MEASURES: Evaluation of severity and visibility using, respectively, the Riccardi and Ablon scales. Evaluation of skin disease-specific and general QoL using, respectively, Skindex-France and SF-36 (Short Form 36 health survey) profiles controlled for sex, age, severity, and visibility. RESULTS: In a multiple regression model controlling for sex, age, and visibility, visibility remained independently associated with the alteration of 3 aspects of the skin disease-specific QoL (Skindex-France): emotions, physical symptoms, and functioning (P =.03, P =.009, and P =.002, respectively). Patients with more severe neurofibromatosis reported more effects on the following domains of their general health QoL (SF-36): physical function, bodily pain, general health perception, and vitality (P =.006, P =.03, P =.01, and P =.04, respectively). CONCLUSIONS: Neurofibromatosis type 1 has a significant impact on QoL through alteration of health and appearance. The consequences of visibility and severity from the viewpoint of patients can be evaluated using Skindex and the SF-36, respectively.

Activities of Daily Living↗
PubMed1992

A case of neurofibromatosis associated with a coronary artery aneurysm and myocardial infarction.

Aneurysms of the aorta, vertebral arteries, carotid artery, thyrocervical trunk, and mesenteric and celiac arteries have been described in patients with neurofibromatosis. These aneurysms may have part of the vessel wall replaced by neurofibromatosis tissue. One previous case reports a coronary artery aneurysm in a patient with neurofibromatosis who suffered a myocardial infarction due to thrombosis formation within the aneurysm. We document a second case of aneurysmal dilatation of a coronary artery in a patient with neurofibromatosis. This patient also had a myocardial infarction in a vascular distribution not involved by the aneurysm. The vascular changes associated with neurofibromatosis are reviewed. Aneurysmal dilatation of the coronary arteries may be a further vascular manifestation of this condition.

Adult↗
PubMed2001

Decreased bone mineral density in neurofibromatosis-1 patients with spinal deformities.

A cross-sectional study was carried out to obtain data on the bone mineral density status of a group of neurofibromatosis-1 patients with spinal deformities, and to search for possible accompanying changes in the bone mineral turnover. Neurofibromatosis-1 is a heredofamiliar disorder that is associated with a variety of skeletal anomalies (mostly spinal deformities) in 10-50% of patients. Intraoperatively, a poor vertebral bone quality has been observed. Efforts have been made to identify factors preventing curve progression, to optimize operational planning and to explain the pathomechanism. As part of the preoperative evaluation, dual-energy X-ray absorptiometry was used to assess the bone mineral density of the lumbar spine in 12 patients with neurofibromatosis-1, supplemented by laboratory blood/urine investigations. A significant decrease in bone mineral density of the lumbar spine was measured. An inverse relation was suggested between the severity of scoliosis and the lumbar spine Z-scores. No pivotal alterations were identified in the laboratory measurements. The bony tissue abnormality observed intraoperatively in neurofibromatosis-1 patients may be described as a diminution of the axial bone mineral density. The biochemical parameters do not support the presence of hyperparathyroidism, renal disorders or other associated diseases influencing the bone mineral turnover. The evaluation of bone mineral density in the course of the preoperative planning is proposed in neurofibromatosis-1; the exact background and the role of a possible osteoporosis in the prognosis remain to be elucidated.

Absorptiometry, Photon↗
PubMed1988

The obstetric perspective of neurofibromatosis.

Neurofibromatosis is a complex hereditary disease involving many organs and systems. A possibility of reciprocal adverse effects exists between the disease and pregnancy. A survey of the relevant literature suggests that management of the pregnant patient with neurofibromatosis is an obstetric challenge. After appropriate genetic counseling, patients with minimal or mild neurofibromatosis who wish to conceive should receive high-risk pregnancy care. Special attention should be directed toward maternal hypertension and the aggravating features of neurofibromatosis. The fetus may inherit the disease and also be at risk for growth retardation. Patients with severe neurofibromatosis should be advised not to conceive.

Female↗
PubMed2005

A parturient with neurofibromatosis type 2: anesthetic and obstetric considerations for delivery.

Neurofibromatosis type 2 is an extremely rare form of neurofibromatosis characterized by central nervous system involvement with bilateral vestibular schwannomas and spinal tumors. Anesthetic management of a parturient with neurofibromatosis type 2 has not been fully reported, and the condition is challenging to obstetric anesthesiologists due to the presence of intracranial and intraspinal canal neurofibromas. We present a case of neurofibromatosis type 2 referred for delivery. Because of central neuraxial involvement, regional anesthesia was avoided, and the patient delivered by cesarean section under general anesthesia. The importance of pre-operative diagnosis and multidisciplinary management for neurofibromatosis type 2 is emphasized and anesthetic and obstetric considerations for delivery are presented.

Adult↗
PubMed2004

Chiari I malformation and neurofibromatosis type 1.

Single case reports exist in the medical literature of patients with tonsillar ectopia, i.e., the Chiari I malformation and neurofibromatosis type 1. However, large series of patients with either of these entities have not been examined for the presence of both defects. We have retrospectively examined two large groups of pediatric patients: Group I, with the primary diagnosis of Chiari I malformation, who have undergone posterior fossa decompression for symptomatology; and Group II patients, who have been observed in our hospital's neurofibromatosis clinic for evaluation. Of 130 surgically addressed Chiari I malformations (Group I), we determined that 5.4% of these patients had the additional diagnosis of neurofibromatosis type 1. Of Group II patients (198) who underwent imaging of the brain, 8.6% were found to have a concomitant Chiari I malformation. These data suggest that Chiari I malformation and neurofibromatosis type 1 are not spurious findings but rather true associations. We hypothesize that the same early dysgenesis of mesoderm that is widely accepted as a culprit in the genesis of many Chiari I malformations is the same pathology affecting primitive development of tissues involved in many patients with neurofibromatosis type 1. Perhaps these data will aid in the determination of a genetic locus for the Chiari I malformation.

Adolescent↗
PubMed1983

Iris hamartomas (Lisch nodules) in a case of segmental neurofibromatosis.

Iris hamartomas (Lisch nodules), previously reported in cases of peripheral neurofibromatosis, were found in a 14-year-old girl with segmental neurofibromatosis. The girl was in the 75th percentile for height (168 cm), the 90th percentile for weight (63 kg), and the 50th percentile for head circumference (55 cm). Her blood pressure was 105/70 mm Hg. Her visual acuity (20/20 and J 1), ocular motility, pupillary responses, visual fields, color vision, stereopsis, and intraocular pressure were within normal limits. Biomicroscopy showed several tan elevated nodular hamartomas on the anterior surface of the right peripheral iris but none elsewhere in the right eye and none in the left eye. Café-au-lait spots and freckling were also limited to the right side of the body. The child had no palpable neurofibromas and was in good health and of normal intelligence. There was no family history of neurofibromatosis, multiple café-au-lait spots, axillary freckling, macrocephaly, or learning disabilities. The absence of iris hamartomas has been used to distinguish segmental neurofibromatosis from the peripheral and central or acoustic forms. Thus, their presence in this case is clinically significant. The segmental form not only produces fewer complications but carries less genetic risk. In segmental neurofibromatosis, the Lisch nodules would be expected to be unilateral rather than bilateral, ipsilateral to the side of the cutaneous involvement, and more frequently associated with contiguous cutaneous lesions.

Adolescent↗
PubMed2000

Frequency of choroidal abnormalities in neurofibromatosis type 1.

BACKGROUND: Choroidal neurofibromatosis is thought to be a rare form of neurofibromatosis that involves the eyes. The development of infrared light examination with a scanning laser ophthalmoscope (SLO) and indocyanine-green fundus angiography has allowed examination of the choroid. We studied choroidal abnormalities in patients with neurofibromatosis 1 and compared their frequency with that of other ocular abnormalities. METHODS: We examined 33 eyes of 17 consecutive patients diagnosed with neurofibromatosis 1 by conventional ophthalmoscopy and by non-invasive infrared monochromatic light with confocal SLO. 76 eyes of 39 age-matched controls were examined similarly by confocal SLO. 21 digital fluorescein and indocyanine-green angiographies were obtained from 11 adult patients, and 77 angiograms were obtained from age-matched controls. FINDINGS: Infrared monochromatic light examination by confocal SLO showed bright multiple patchy regions at and around the entire posterior pole of all 33 eyes examined. All bright patchy regions seen in adult patients corresponded to hypofluorescent areas on their indocyanine-green angiograms. However, no abnormalities were noted in any patient at corresponding areas under conventional ophthalmoscopic examination or fluorescein angiography. In SLO and indocyanine-green studies, controls and control angiograms showed no choroidal abnormalities. Iris nodules were noted in 25 eyes (76%) of 14 patients (82%) and eyelid neurofibroma in five patients (29%). INTERPRETATION: The bright patchy regions noted under infrared fundus examination and the corresponding hypofluorescent areas seen on indocyanine-green angiograms are probably of choroidal origin. The high frequency (100%) of these abnormalities suggests that the choroid is one of the structures most commonly affected by neurofibromatosis 1.

Adult↗
PubMed1987

Cell culture study on neurofibromatosis.

Cells obtained on culture from normal appearing skin (NFns) and from neurofibromas of neurofibromatosis patients (NFnf), and from normal skin of normal donors (Normal) were studied. We measured the growth rate, maximal cell density, radiation sensitivity and resistance to 3-nitrotyrosine of each of the three groups of strains. The growth rate and maximal cell density of fibroblasts derived from neurofibromas of the neurofibromatosis patients were significantly lower than those in normal donors. The neurofibromatosis cells showed no X-ray hypersensitivity, as compared to normal controls. We also did not observe resistance to 3-nitrotyrosine of the cells derived from normal appearing skin of the neurofibromatosis patients. However, cells derived from neurofibromas of the neurofibromatosis patients showed resistance to 3-nitrotyrosine. This phenomenon may explain the slow growth rate of the latter cells.

Cell Count↗
PubMed1999

A case of neurofibromatosis type 1 with an aldosterone-producing adenoma of the adrenal.

Neurofibromatosis type 1 is a phacomatosis. Neurofibromas are the most common tumours associated with the disease, and along with other tumours, make neurofibromatosis type 1 the most common tumour predisposing syndrome in humans. Hypertension may be coincidental, but at least two specific neurofibromatosis related causes must be considered, namely neurofibromatous involvement of the renal artery and pheochromocytoma. We have described the first known case of a patient with neurofibromatosis type 1 who developed hypertension due to an aldosterone-producing adenoma of the adrenal. The question of whether this association was coincidental or due to the tumour predisposition of neurofibromatosis type 1 was debated.

Adenoma↗
PubMed1999

Aberrant cutaneous expression of the angiogenic factor midkine is associated with neurofibromatosis type-1.

Neurofibromatosis type 1 is a common autosomal dominant disorder (incidence 1:3500) characterized by lesions that include neural crest derivatives such as Schwann cells and melanocytes. A critical event in the pathogenesis of neurofibromatosis type 1 is the heterozygous germ-line loss of the tumor suppressor gene NF1. Additional genetic and/or epigenetic events have been posited, including various alterations in growth factor expression. By in situ hybridization and immunohistochemistry, we demonstrate aberrant expression of the angiogenic and tumorigenic growth factor midkine in the skin of patients with neurofibromatosis type 1, but not normal individuals. We demonstrate that midkine expression is independent of the presence of neurofibromas, and thus appears to be associated with mutations in the NF1 gene. Furthermore, midkine-containing culture media is shown to stimulate the growth of human endothelial and neurofibroma-derived cells. In conclusion, we introduce the skin as a source of dysregulated growth factors in neurofibromatosis type 1, and suggest the further study of the angiogenic factor midkine in neurofibromatosis type 1 pathogenesis.

Angiogenesis Inducing Agents↗
PubMed1986

Long-term follow-up of von Recklinghausen neurofibromatosis. Survival and malignant neoplasms.

To document the natural history of von Recklinghausen neurofibromatosis, we followed up a nationwide cohort of 212 affected patients and families identified in Denmark 42 years ago. We obtained follow-up information on 99 percent. Because all 76 probands were identified through hospitals, they may include a disproportionate number of severe cases of neurofibromatosis. To diminish this effect of selection bias, we distinguished between the probands and their affected relatives. In a comparison with the general population, survival rates were significantly impaired in relatives with neurofibromatosis, worse in probands, and worst in female probands. Malignant neoplasms or benign central nervous system tumors occurred in 45 percent of the probands, giving a relative risk of 4.0 (95 percent confidence limits, 2.8 to 5.6) as compared with expected numbers. Multiple primary neoplasms were found in 15 probands, but only 1 relative. Compared with the general population, male relatives with neurofibromatosis had the same rate of neoplasms, whereas female relatives had a nearly twofold higher rate (relative risk, 1.9; 1.1 to 3.1). Nervous system tumors were disproportionately represented. We conclude that patients with severe neurofibromatosis requiring hospitalization often have a poor prognosis, but incidentally diagnosed relatives may have a considerably better outcome.

Brain Neoplasms↗
PubMed1988

Neurofibromatosis and renal artery stenosis: a case of familial incidence.

Hypertension as a result of proximal renal artery stenosis has been described in patients with neurofibromatosis, but a review of the English language literature showed no familial incidence of renovascular lesions in association with neurofibromatosis. We report a case of neurofibromatosis in a 24-year-old white woman with renovascular hypertension resulting from a proximal renal artery stenosis and poststenotic aneurysmal degeneration. Her sister, aged 38 years, presented similarly but without clinical evidence of neurofibromatosis. Both sisters had reversed saphenous vein bypass grafting for renal artery stenosis and showed no evidence of pheochromocytoma. Histologic examination of both surgical specimens revealed similar fibrodysplastic changes of the media and adventitia without abnormal neural tissue, findings consistent with those described in patients with neurofibromatosis.

Adult↗
PubMed2004

Is a plexiform neurofibroma pathognomonic of neurofibromatosis type I?

OBJECTIVES/HYPOTHESIS: Several prominent textbooks have claimed that a plexiform neurofibroma is pathognomonic for neurofibromatosis type I. This is not in agreement with the National Institutes of Health criteria, which require two signs to be present, one of which can be a plexiform neurofibroma. Is a plexiform neurofibroma pathognomonic for neurofibromatosis type I? STUDY DESIGN: Retrospective chart review. METHODS: Fifty-one patients with surgically resected plexiform neurofibromas between the years 1991 and 2001 were identified, and their charts reviewed. The presence and absence of any manifestation of neurofibromatosis type I as detailed in the National Institutes of Health criteria were recorded. The pathology database at the Hospital for Sick Children (HSC) was searched retrospectively. RESULTS: Five of the 51 patients had a single solitary plexiform neurofibroma. They were followed at the neurofibromatosis clinic at the HSC with regular detailed examinations and no other stigmata were found. CONCLUSION: Although plexiform neurofibromas are highly suggestive of neurofibromatosis type I, they are not pathognomonic as claimed.

Adolescent↗
PubMed1992

Prevalence of scoliosis in neurofibromatosis.

Experience in a comprehensive, multispecialty neurofibromatosis clinic leads the authors to suggest that the association of spinal deformity with neurofibromatosis is less frequent than usually assumed. Previously reported statistics may be partly attributed to preselection of patients seen by spinal surgeons, and to the predominant referral of patients having severe manifestations of neurofibromatosis. A diagnosis of neurofibromatosis 1, based on National Institutes of Health criteria, is confirmed for two hundred twenty patients at the clinic. Twenty-three of these patients have structural scoliosis. Nine patients have idiopathic type curves, eight have dystrophic scoliosis, four have dystrophic kyphoscoliosis, and two have dystrophic lordoscoliosis. The authors believe that 10% is representative of the true prevalence of spinal deformity in an otherwise unselected cross section of neurofibromatosis patients.

Adolescent↗