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PubMedDate not supplied

Neurofibromatosis and hypertension. A case report.

The case of a 12-year-old boy with neurofibromatosis, kyphoscoliosis, and hypertension is reported. The association of neuroflibromatosis and kryphoscoliosis is well known. There are no reports on the association of neurofibromatosis and hypertension in the orthopaedic literature. The cause was found to be intrarenal vascular abnormalities which are characteristic of neurofibromatosis. Other possible causes of hypertension in this disease are discussed. This patient was successfully treated by a partial nephrectomy.

Adolescent↗
PubMed1997

Traction-induced rupture of an extracranial vertebral artery aneurysm associated with neurofibromatosis. A case report.

STUDY DESIGN: This report describes presumed traction-induced rupture of a vertebral artery aneurysm in a patient with neurofibromatosis Type I. OBJECTIVE: To draw attention to the need for preoperative arteriography in the surgical management of severe cervical kyphosis in neurofibromatosis. SUMMARY OF BACKGROUND DATA: Aneurysmal dilatation is a rare but well-documented manifestation of neurofibromatosis. The complication of rupture of a vertebral artery lesion has not been described previously. METHODS: The clinical features of the reported complication in a 56-year-old woman are detailed. RESULTS: A successful outcome was achieved by embolization and later anterior and posterior spinal fusions. CONCLUSIONS: Vertebral arteriography should be part of the preoperative assessment of neurofibromatotic cervical kyphosis. Skull traction may produce aneurysmal rupture.

Aneurysm, Ruptured↗
PubMed2002

Irreducible thoracic spondyloptosis in a child with neurofibromatosis: a rationale for treatment.

STUDY DESIGN: A case report and review of literature are presented. OBJECTIVES: To describe the surgical management of a midthoracic spondyloptosis associated with kyphosis in a child with neurofibromatosis, an extremely rare but a potentially high-morbidity complication. SUMMARY OF BACKGROUND DATA: Dystrophic kyphoscoliotic spinal deformity is the most common orthopedic sequela of neurofibromatosis. Spondyloptosis is a rare complication but with the potential for high morbidity if the diagnosis is missed or undertreated. Reported cases are rare. METHODS: A severe thoracic spondyloptosis occurred in a 7-year-old girl with peripheral neurofibromatosis who presented with transient paraparesis after a fall. The kyphosis was reduced by cantilever correction forces, achieving side-to-side (bayonet) apposition rather than anatomic reduction of the spondyloptosis. This was followed by anterior spinal arthrodesis and structural grafting. RESULTS: Two and a half years after the surgery there is no loss of correction, and the patient has remained neurologically recovered. CONCLUSIONS: Posterior correction of the gibbus in a bayonet apposition and stabilization with a two-rod construct followed by anterior spinal arthrodesis and structural grafting seem to offer efficient surgical treatment.

Child↗
PubMed2001

An unusual cause of biliary stricture in a patient with neurofibromatosis type 1.

The majority of biliary strictures occur as a consequence of iatrogenic injury to the extrahepatic biliary tract, with more than 80% following cholecystectomy. The laparoscopic era has led to heightened awareness of this problem. The occurrence of an iatrogenic stricture can be particularly devastating to both patient and surgeon. The literature highlights a number of factors involved in the aetiology of such traumatic stricture formation. We report an unusual case of a Bismuth 2 stricture of the proximal common hepatic duct,occurring in a patient with type 1 neurofibromatosis, following an iatrogenic bile duct injury that occurred during a laparoscopic cholecystectomy. Histological examination of the strictured region of bile duct removed at surgery demonstrated multiple neurofibromas of varying sizes present in the submucosa. Neurofibromatosis type 1 (von Recklinghausen disease) affects the gastrointestinal tract in up to 25% of cases, and in such cases is characterized by multiple submucosal neurofibromas. We believe this is the first reported case of a biliary stricture in a patient with neurofibromatosis type 1, which appeared to be as a consequence of neurofibromas in the submucosa of the bile duct.

Adult↗
PubMed2005

MRI evaluation of neurofibromatosis 2 patients: a standardized approach for accuracy in interpretation.

OBJECTIVE: To determine the level of agreement between local radiologists' and an experienced neuroradiologist's measurements of vestibular schwannomas. STUDY DESIGN: Prospective study with uniform magnetic resonance acquisition protocol parameters and reporting instructions across 30 magnetic resonance imaging facilities worldwide. SETTING: Multicenter natural history study of neurofibromatosis Type 2. SUBJECTS: One hundred fifteen magnetic resonance imaging examinations of 57 neurofibromatosis Type 2 patients older than 5 years of age. INTERVENTIONS: Thin-slice, postcontrast cranial magnetic resonance imaging. MAIN OUTCOME MEASURES: Spearman's rho interobserver association coefficient of vestibular schwannoma linear measurements. RESULTS: The local and experienced radiologist measurements and identification of tumors agreement was fair (kappa = 0.77). Discordant interpretations were adjudicated by another experienced neuroradiologist. CONCLUSION: The least interobserver variability was found in measurements of thin-slice postcontrast magnetic resonance imaging scans obtained at neurofibromatosis Type 2 centers in patients without previous operations and moderately sized tumors. If the schwannoma was difficult to assess, because of magnetic resonance imaging acquisition protocol, postoperative changes, or tumors smaller than 5 mm in greatest diameter, the neuroradiologist provided a more thorough assessment. The authors suggest uniform reporting criteria for vestibular schwannoma assessments to ensure clinically relevant information is communicated regarding vestibular schwannoma size.

Adolescent↗
PubMed1985

Neurofibromatosis: a familial and family disorder.

Neurofibromatosis (NF) is a devastating illness which is extremely variable in its symptoms, intensity, and progression. Nursing literature has suffered markedly from lack of information on this important health care problem. This article is the result of an interface of the senior author's own personal experience with neurofibromatosis and an extensive review of international and multidisciplinary publications on the subject. The nurse can exert a profound impact on the care of the patient/family experiencing the crisis of neurofibromatosis.

Counseling↗
PubMed1984

Neurofibromatosis of von Recklinghausen: a quantitative study of the epidermal keratinocyte and melanocyte populations.

The numerical keratinocyte to melanocyte relation was studied in café au lait spots and adjacent normally pigmented skin of 9 patients with classical neurofibromatosis. Compared to normal skin of healthy individuals, the keratinocyte:melanocyte ratio distributions obtained in neurofibromatosis indicated a shift to lower values in the biopsies of café au lait spots and normally pigmented skin. These results are evidence in favor of an impaired tissue organization of the epidermis in neurofibromatosis with regard to the keratinocyte-melanocyte interrelation.

Adult↗
PubMed2005

Melanocytic nevi are associated with neurofibromas in neurofibromatosis, type I, but not sporadic neurofibromas: a study of 226 cases.

BACKGROUND: Neurofibromatosis, type 1, is associated with cutaneous melanin pigmentation, but an association with ordinary melanocytic nevi has not been described. METHODS: This retrospective case-control study was designed to see if neurofibromas in patients with neurofibromatosis, type 1 (NF-1) differ from sporadic neurofibromas (SN) in their incidence of associated melanocytic nevi and other histologic features. Slides from 114 NF-1 were compared with 112 SN and 300 intradermal melanocytic nevi (IDN). RESULTS: Small lentiginous melanocytic nevi were identified over 13 NF-1 (11%) but no SN (P=0.0002). Compared with other NF-1, NF-1 with nevi were more frequently associated with melanocytic hyperplasia, giant melanosomes and diffuse neurofibroma (P<0.03). Compared with SN, NF-1 were also more frequently associated with melanocytic hyperplasia, lentigo simplex-like changes, diffuse neurofibroma and plexiform neurofibroma (P<0.001). Sebaceous hyperplasia (14%), dermal elastosis (9%), lipomatous change (8%), epithelial cysts (4%) and keratin granulomas or folliculitis (3%) were not significantly different in prevalence between NF-1, SN and the control group of IDN. CONCLUSIONS: This study suggests that there is a difference in the potential for melanocytic proliferation in NF-1 compared with SN. NF-1, SN and IDN are associated with a similar range of incidental histologic changes. Ball NJ, Kho GT. Melanocytic nevi are associated with neurofibromas in neurofibromatosis, type 1, but not sporadic neurofibromas. A study of 226 cases.

Adolescent↗
PubMed2006

Bilateral segmental neurofibromatosis with gastric carcinoma.

Neurofibromatosis type 1 (NF1) is an autosomal-dominant disorder characterized by café-au-lait spots, neurofibromas, intertriginous freckles, and Lisch nodules in the iris. Segmental neurofibromatosis is fundamentally a mosaic variant of NF1. A 66-year-old man visited us with bilateral segmental neurofibromatosis (SN) on the torso. He had multiple neurofibromas on the back bilaterally and on the right abdomen, and partial unilateral lentiginosis on the left abdomen and left back. The patient had noticed the development of papules and nodules on the right abdomen and bilaterally on the back 6 years previously, and had been diagnosed with early gastric carcinoma 5 years previously. To our knowledge, this is only the third reported case of SN associated with internal malignant tumours.

Aged↗
PubMed2004

Neurofibromatosis type 2 with multiple plexiform schwannomas.

Multiple plexiform schwannomas (PS) or neurilemmomas are very rare nerve sheath tumors, showing multiple schwannomas of the skin and other soft tissues, brain, or spinal cord with histopathologic characteristic of interwoven Antonio-A type tissues(1) but without other signs of neurofibromatosis type 2 (NF2). Neurofibromatosis type 2 is much less common than neurofibromatosis type 1 (NF1), with a symptomatic prevalence of 1 in 210,000,(2) and, to the authors' knowledge, only six cases of NF2 with multiple plexiform schwannomas have been reported in the literature.(3-5) We report a rare case of multiple cutaneous plexiform schwannomas associated with characteristic features of NF2 including bilateral acoustic neurilemomas and intracranial meningioma.

Brain Neoplasms↗
PubMed1978

Cerebrovascular changes in neurofibromatosis.

Vascular changes in neurofibromatosis are most commonly described in the renal arteries. In the present study, two children with neurofibromatosis and cerebral vascular occlusive changes demonstrated by cerebral angiography are reported. Although focal neurological findings in children with neurofibromatosis are often due to tumours, the sudden development of neurological symptoms in such cases should alert paediatricians to the possibility of cerebral vascular disease.

Astrocytoma↗
PubMed1983

Neurofibromatosis and severe hypertension in pregnancy.

Four pregnant patients with neurofibromatosis (Von Recklinghausen's disease) either developed hypertension during pregnancy or had an exacerbation of a pre-existing chronic hypertension. Two patients required early termination of pregnancy for severe hypertension; a third had severe intrauterine growth retardation resulting in intrauterine fetal death; and one had an otherwise uneventful pregnancy and a live healthy infant. Because of the association between neurofibromatosis and hypertension, patients with neurofibromatosis require special antenatal care and management.

Adult↗
PubMedDate not supplied

Modified wise pattern skin reduction for plexiform neurofibromatosis of the breast.

Von Recklinhausen's neurofibromatosis is an autosomal dominant condition occurring typically with café au lait patches, axillary freckling, multiple fibromata, and Lisch nodules. We present a case of a 36-year-old female who presented with severe neurofibromatosis involving the lower half of the breast. The patient was not keen on mastectomy and pedicle flap reconstruction. A modified wise pattern incision was employed to remove the lower half of the breast and neurofibromatosis leading to a reasonable result.

Adult↗
PubMed1981

The "elephant man" of Cambridge. a case report of neurofibromatosis.

The case is presented of a 65-year-old man with neurofibromatosis manifesting facial and skeletal features resembling those of the "elephant man" described by Sir Frederick Treves. Autopsy revealed not only a pheochromocytoma (a common accompaniment of neurofibromatosis), but an enlarged infarcted spleen and a subphrenic abscess. These findings have not been described previously in a patient with neurofibromatosis.

Adolescent↗
PubMed2006

Manifestations of the tongue in Neurofibromatosis type 1.

OBJECTIVE: The aim of this study is to analyse alterations of the tongue and the correlation between these lesions and different types of tumor. SUBJECTS AND METHODS: A total of 258 cases (131 females, 127 males) of neurofibromatosis type 1 were screened between 1994 and 2004 in our Dermatology Department. All patients included in this study have NF1, as defined by the NIH Consensus Conference. Three cases of neurofibromas of the tongue in patients with neurofibromatosis type were reported. RESULTS: Our patients showed nodular lesions on the tongue, related to neurofibromas in two patients and plexiform neurofibroma in one patient, respectively. Clinical and hystopatological findings were useful in distinguishing between neurofibromas and other soft tissue tumors. An increased prevalence of malignancy has been documented in patients affected by neurofibromatosis type 1. Changes in the size of a pre-existing mass, compression, or infiltration of the adjacent structures indicate malignant degeneration. Histological and clinical evaluation should be performed in order to choose the most appropriate treatment strategy for these patients. CONCLUSION: The oral manifestations of NF are well-documented but may not be at the forefront of the clinician's mind in the differential diagnosis of intra-oral swellings.

Adult↗
PubMed1986

Sensitivity of cultured skin fibroblasts from patients with neurofibromatosis to DNA-damaging agents.

Neurofibromatosis (NF) is an autosomal dominant disorder associated with various constitutional abnormalities as well as a striking predisposition for malignant and nonmalignant neoplasms, both in cells originating in and not originating in the neural crest. We have examined the sensitivity of cultured skin fibroblasts from patients with neurofibromatosis to several types of DNA damage. Fibroblasts in Dulbecco's modified Eagle's medium were plated at 10(2) to 2 X 10(4) cells per 75 cm2 tissue culture plates, and exposed to various doses of gamma radiation (leads to DNA scission), actinomycin D (a DNA intercalating agent), or mitomycin C (a bifunctional alkylating agent leading to DNA cross-links). Cells were reincubated for 15 to 40 days until surviving colonies exhibited greater than 30-50 cells. Plates were then stained with 1% methylene blue and the colonies counted, with surviving fraction determined relative to plating efficiency. Nine skin fibroblast cell strains from normal individuals were studied as controls. One neurofibromatosis (NF) cell strain, SB23, exhibited normal sensitivity to all three DNA-damaging agents studied in early (7-8) and middle (12-13) in vitro passage. Strain GM0622, on the other hand, exhibited normal sensitivity to the three DNA-damaging agents studied at early passage, but showed a significant decrease in survival after exposure to both gamma radiation (D0 = 106 rad) and actinomycin D (D0 = 0.024 mcg/ml) with increasing passage. Strain GM1639 exhibited decreased survival after actinomycin D exposure at early passage (D0 = 0.017 mcg/ml), with normal survival after exposure to gamma radiation and mitomycin C at the same passage. Cell strains exhibited decreasing low density plating efficiencies and growth rates with increasing passage such that study of cytotoxicity was not feasible after middle passage in strains SB23 and GM0622, and after early passage in strain GM1639. The results suggest that cultured fibroblast cell strains from patients with NF exhibit early in vitro senescence which sometimes is associated with an inability to handle certain DNA-damaging agents.

Cell Line↗
PubMed1992

Bilateral optic nerve sheath meningiomas in a patient with neurofibromatosis type 2.

A 34-year-old woman who presented with hearing loss and tinnitus was found to have reduced vision bilaterally. Computed tomography scan revealed bilateral acoustic neuromas and bilateral optic nerve sheath meningiomas. The presence of bilateral acoustic neuromas fulfils the criteria for the diagnosis of central neurofibromatosis (neurofibromatosis type 2). Although this is the first report of bilateral optic nerve sheath meningioma in neurofibromatosis type 2, meningiomas are commoner in this dominantly inherited disorder, than in its absence and both forms of central nervous system tumour may be caused by loss of tumour suppressor genes on chromosome 22.

Adult↗
PubMed1981

Coincidence of neurofibromatosis and myotonic dystrophy in a kindred.

Neurofibromatosis and myotonic dystrophy have occurred in ten members of a nonconsanguineous family with a high degree of concordance. The expression of neurofibromatosis is peripheral, and the expression of myotonic dystrophy has produced at least moderately severe disability. Neither disease has appeared to alter the phenotypic expression of the other when both have occurred simultaneously. Secretor typing supports the assumption that the myotonic dystrophy in this family is the commonly recognised secretor-linked entity. The segregation pattern of the two disorders in this family suggest the possibility of close linkage between the loci for neurofibromatosis and myotonic dystrophy.

Female↗