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PubMedDate not supplied

Neurofibromatosis in children: the role of the orthopaedist.

Type 1 neurofibromatosis (NF-1), also known as von Recklinghausen disease, is one of the most common human single-gene disorders, affecting at least 1 million persons throughout the world. It encompasses a spectrum of multifaceted disorders and may present with a wide range of clinical manifestations, including abnormalities of the skin, nervous tissue, bones, and soft tissues. The condition can be conclusively diagnosed when two of seven criteria established by the National Institutes of Health Consensus Development Conference are met. Most children with NF-1 have no major orthopaedic problems. For those with musculoskeletal involvement, the most important issue is early recognition. Spinal deformity, congenital tibial dysplasia (congenital bowing and pseudarthrosis), and disorders of excessive bone and soft-tissue growth are the three types of musculoskeletal manifestations that require evaluation. Statistics gathered from the Cincinnati Children's Hospital Neurofibromatosis Center database show the incidence of spinal deformity in children with NF-1 to be 23.6%; pectus deformity, 4.3%; limb-length inequality, 7.1%; congenital tibial dysplasia, 5.7%; hemihypertrophy, 1.4%; and plexiform neurofibromas, 25%. The orthopaedic complications can be managed, but only rarely are they cured.

Bone Diseases, Developmental↗
PubMed2000

Mediastinal atypical carcinoid and neurofibromatosis type 1.

We report a case of mediastinal atypical carcinoid in a 63-year-old woman with neurofibromatosis type 1 (NF-1), who presented with shortness of breath and a bulky mediastinal mass. Initial consideration was given to a neurogenic tumor. However, on thoracoscopic biopsy, the histologic appearance was consistent with an atypical carcinoid. Carcinoid tumors have been reported in association with NF-1 previously, but commonly in such unusual sites as the ampulla of Vater and duodenum and not in the thorax. The bulky, extensive, and highly vascular nature of the lesion precluded resection or debulking surgery. To our knowledge, there are no previous reports of atypical carcinoid of the lung or mediastinum in a patient with neurofibromatosis. This case report, therefore extends the spectrum of solid neoplasia in general and carcinoid tumors in specific, as they occur in association with NF-1.

Carcinoid Tumor↗
PubMed2000

Meningioma presenting as an intraoral mass in a patient with neurofibromatosis type 1.

A 77-year-old woman with neurofibromatosis type 1 presented with ill-fitting dentures due to intraoral extension of a right temporal fossa mass. Computed tomographic scanning demonstrated that the masticator space mass bowed the zygomatic arch and remodeled the lateral orbit and maxillary sinus walls, findings that were consistent with the clinical diagnosis of a neurofibroma with possible malignant transformation. However, light microscopic, immunohistochemical, and ultrastructural examination of tissue from an incisional biopsy specimen were diagnostic of meningioma. This case illustrates that the clinicopathologic differential diagnosis of an enlarging mass in patient with neurofibromatosis should include sporadic, unrelated neoplasms as well as tumors known to be associated with the syndrome.

Aged↗
PubMed1999

Neurofibromatosis type 2: genetic and clinical features.

For decades, neurofibromatosis type 2 (NF2) was misclassified with the more common neurofibromatosis type 1 (NF1), until 1987 when it was found via genetic linkage analysis that the gene for NF1 was localized to chromosome 17 and the gene for NF2 was localized to chromosome 22. Large, population-based studies have shown that vestibular schwannomas (VS), the hallmark of NF2, do not occur at increased frequency in patients with NF1. Typical clinical features of NF2 are bilateral VS or a family history of NF2, plus either unilateral VS or any two of the following: meningioma, glioma, neurofibroma, schwannoma or posterior subcapsular lenticular opacities. Presymptomatic genetic tests are now possible in the majority of families, and it is hoped that somatic gene therapy will be developed for the treatment of this disease.

Adult↗
PubMedDate not supplied

[Renovascular arterial hypertension in the framework of von Recklinghausen's neurofibromatosis. Apropos of a case].

Arterial hypertension in patients with neurofibromatosis is most often due to an associated pheochromocytoma. In rare cases the etiology of arterial hypertension is renovascular. Surgical treatment is mandatory when the stenosis is located in the proximal segment of the vessel. Angioplasty is hazardous in this setting due to the fibrotic nature of the culprit lesion. The authors report a case of ostial narrowing of the right renal artery in a 16-year-old girl with severe arterial hypertension and neurofibromatosis. The operation consisted of resection of the culprit lesion and reimplantation of the renal artery on the aorta. Postoperatively her blood pressure returned to normal.

Adolescent↗
PubMed1978

Neoplastic complications of neurofibromatosis.

Neurofibromatosis associated with secondary neoplasms is discussed. Neurosarcomas are the most common and most malignant secondary tumors in neurofibromatosis. Any sudden growth in a peripheral tumor in this disease should alert the physician to the possibility of malignant change and the need for biopsy. Only by early diagnosis and adequate excision can some of these patients be saved.

Adult↗
PubMedDate not supplied

Congenital bone malformations in patients with neurofibromatosis type 1 (Nf1).

To address the prevalence of congenital bone malformations in neurofibromatosis type 1 (Nf1; compared with Nf1 bone anomalies and tumors), we studied the Nf1 population of 135 children (70 boys, 65 girls) seen at the neurofibromatosis clinic, University of Catania, Italy, in the period 1990 through 1996. Twelve (8.8%) of the 135 children had congenital bone malformations: unilateral or bilateral postaxial polydactyly type A (n = 1) and type B (n = 1), bilateral postaxial polydactyly type A in association with preaxial polydactyly type 1 (n = 1) and bilateral preaxial polydactyly (n = 1); clynodactyly (n = 1); multiple segmentation anomalies of the vertebrae (n = 6), and complex costovertebral anomalies (n = 1). We found a higher frequency of polydactyly (2.9%) in comparison to that in the general population (0.014-0.12%) and in our national (0.027%) and regional (0.066%) population, and a higher frequency of vertebral (5.1%) and costovertebral (0.7%) malformations. This is the first study to state the overall prevalence of congenital bone malformations in an Nf1 population. Interestingly, polydactyly (postaxial type) and Nf1 was previously reported only once.

Adolescent↗
PubMed1998

[Pheochromocytoma and von Recklinghausen neurofibromatosis: postpartum crisis and renal artery thrombosis].

Pheochromocytoma is observed with higher frequency in patients with von Recklinghausen neurofibromatosis. We report a 36 years old female with von Recklinghausen neurofibromatosis who developed mild hypertension during the fourth month of pregnancy. A cesarean section was performed at 37 weeks of pregnancy. Thereafter, the patient presented severe hypertensive and hypotensive crises, sinus tachycardia and fever. No evidences of an infectious disease were found. Abdominal ultrasound examination showed a right adrenal mass of 7 x 5 cm. High levels of urinary cathecolamines confirmed the diagnosis of pheochromocytoma. After three weeks of prazosin therapy, the patient was operated. During the surgical procedure, an encapsulated pheochromocytoma was found and excised. A right renal atrophy and renal artery thrombosis were also found and a nephrectomy was done. Postoperative evolution was uneventful and the patient remains with normal blood pressure levels six months after the operation.

Adrenal Gland Neoplasms↗
PubMed1999

Hearing loss in neurofibromatosis type 1: report of two cases.

We report two cases of sixteen year old female patients with NF1 and hearing loss. One patient had only cafe-au-lait spots, while the other patient had severe manifestations of NF1 in form of kyphoscoliosis, requiring multiple laminectomies, vertiginous attacks and optic radiation glioma seen on MRI. Other investigations included pure tone audiograms, autoimmune inner ear disease (AIED) tests. The patient with slight manifestations of NFI had mild to moderate low frequency bilateral sensorineural hearing loss, which showed 20 dB improvement in hearing threshold with steroid treatment. On the other hand, the patient with severe manifestations of NFI disease had profound sensorineural hearing loss with vertiginous episodes. Hearing loss which is usually seen in patients with acoustic neuroma, neurofibromatosis type II, is also an important symptom in patients with neurofibromatosis type I.

Adolescent↗
PubMed1999

Three-dimensional multivoxel proton MR spectroscopy of the brain in children with neurofibromatosis type 1.

BACKGROUND AND PURPOSE: Neurofibromatosis type 1 (NF1), the most common autosomal dominant genetic disorder, frequently manifests as focal areas of signal intensity (FASI) on T2-weighted MR images. The purpose of our study was to investigate whether tumor(s), focal areas of signal intensity (FASI), and normal brain can be differentiated by using 3D multivoxel localized proton MR spectroscopy in children with neurofibromatosis type 1 (NF1) disorder. METHODS: Five children with NF1 and two healthy control subjects, all in the 3- to 11-year-old age group, were studied with a new 3D proton MR spectroscopy technique: a hybrid of 1D fourth-order transverse Hadamard spectroscopic imaging and 2D chemical shift imaging. A 3D volume-of-interest (VOI) was image-guided onto the site of the abnormality and identified on three orthogonal images. Proton MR spectroscopy partitioned the VOI into 6 x 6 x 4 (or 8 x 8 x 4) voxels, 1.5 (or 1.0) cm3 each. RESULTS: Simultaneous coverage of the entire VOI yielded good spectral signal-to-noise ratio from 136 (or 256) voxels in 27 minutes. Proton MR spectroscopy indicated that FASI a) are characterized by significantly elevated choline (Cho), reduced creatine (Cr), 2>Cho: Cr>1.3, and near normal N-acetylaspartate (NAA) levels; b) are different from tumors that exhibit Cho:Cr>2 and no NAA; c) have no intrinsic lipid or lactate signal(s); and d) correlate in spatial extent but are more extensive than indicated by MR imaging. CONCLUSION: Three-dimensional multivoxel proton MR spectroscopy reveals distinct metabolic features that differentiate normal, FASI, and tumor regions in the pediatric brain.

Aspartic Acid↗
PubMed1999

[Neurofibromatosis type 1 in childhood].

Neurofibromatosis 1 is one of the most common genetic disorders in man. Although almost every body system can be involved, it most frequently affects the skin, the nervous system and the skeleton. Major disease features are café-au-lait spots, axillary/inguinal freckling, neurofibromas and Lisch' nodules. The complications are quite variable, making it impossible to predict the clinical course in an individual patient. To summarize the problems associated with this disease we have quantified manifestations and complications in a group of 38 children with neurofibromatosis 1 who were seen at the University Hospital in Trondheim, Norway between 1987 and 1997. The results are based upon the medical records as well as clinical examination. A wide variety of initial symptoms was recorded, but the majority of the children had café-au-lait spots and axillary/inguinal freckling, two of the seven disease features included in the diagnostic criteria given by the National Institutes of Health. The most frequent complications were tumours, with highest incidence of optic pathway gliomas, disturbances of growth and puberty, delayed psychomotor development and learning disabilities. The risk of complications necessitates regular follow-up in a paediatric department. An annual assessment by an ophthalmologist is also recommended, as well as Visual Evoked Potentials/MRI as screening for optic glioma in children under ten years of age.

Adolescent↗
PubMed1999

[Arterial complications of neurofibromatosis].

Type 1 neurofibromatosis (NF1) is the most frequently observed phacomatosis, but involvement of arterial trunks is uncommon. Expression depends on the localization and is not easily related to the causal condition. Seven patients with type 1 neurofibromatosis developed vascular manifestations (table I) disclosed by hypertension (n = 2) digestive angina (n = 1), arterial rupture (n = 1) and aneurysm of the subrenal aorta (n = 1). The diagnosis of NF1 was clear in 5 cases; in 2 cases, the diagnosis could only be established on the basis of pathology findings demonstrating dysplasia of the media with voluminous periadventitial hypertrophic nerves (table II). All the large arteries can be involved in NF1. A complete vascular work-up is needed to identify multiple arterial localizations as found in two of our cases. Thoraco-abdominal stenosis was observed in 5 cases leading, in 2 cases, to coarctation with a hemodynamic and functional impact requiring aortic revascularization. The most frequently observed localization involves the renal arteries: 3 of our patient had occlusive lesions of the renal arteries and in 2, aneurysms were observed. Three of our patients (including 2 of the preceding), had major occlusion of digestive arteries. Three other cases revealed an aneurysm of inflammatory subrenal aorta, a rupture of the iliac into the inferior vena cava and a rupture covered by a subclavian aneurysm. The indication for surgery depends on the arterial signs of associated complications (5 of our cases). In one case surgery was indicated to prevent rupture of a splenic artery aneurysm and an aneurysm of the subrenal abdominal aorta. Two cases were treated by exclusion (ilio-cava fistula) or excision (splenic aneurysm); renal or digestive revascularization was performed with arterial or venous autografts in young patients (3 cases). One extensive abdominal coarctation was repaired with a PTFE graft as were the subclavian and subrenal aorta aneurysms. One patient with an ilio-cava fistula died from collapsus. Long-term results of the revascularizations are satisfactory with good control of the hypertension and total regression of the digestive angina. Fibrodysplasia of the renal or digestive media occurring alone or thoraco-abdominal coarctation should suggest NF1 and lead to a complete work-up to identify other arterial localizations. Patients should be followed regularly to prevent complications which in case of rupture can be life-threatening.

Adult↗
PubMed1999

[Association of spheno-orbital dysplasia with plexiform neuroma in von Recklinghausen's neurofibromatosis].

We report a case of plexiform neurofibroma of the upper eyelid associated with spheno-orbital dysplasia in a 18-year-old woman with von Recklinghausen neurofibromatosis. Visual acuity was 20/40 in the right eye and 20/20 in the left. Plexiform neurofibroma involving the right upper eyelid was associated with mild ptosis and ipsilateral facial hypertrophy. Biomicroscopic examination showed lisch nodules. Funduscopic examination, visual field and neurologic examinations were normal. Café au lait spots involved the trunk with neck plexiform neurofibroma. Computed tomography disclosed spheno-orbital dysplasia. The patient's status remained unchanged at 6 months follow-up. Cranial features of von Recklinghausen neurofibromatosis are found in 3 to 7% of patients. In patients with plexiform neurofibroma of the eyelid the ophthalmologist should look for associated spheno-orbital dysplasia.

Adolescent↗
PubMed2000

[A case of multiple malignant schwannoma as the only disease in a 40-year-old patient: is this a new type of neurofibromatosis?].

We present the case of a 40-year-old man that presented a fast growing tumour on the external side of the left elbow. The tumour was extirpated by means of marginal exerectomy. The microscopic study corresponded to epithelioid malignant schwannoma, and the patient received radiotherapy and adjuvant chemotherapy. During the following years two local recidives and two new malignant schwannomas, one in the left sciatic common trunk and another paraspinal one, appeared and were extirpated. Radiotherapy and chemotherapy were again administered. In the last year, four new tumours have appeared: in the supraclavicular space, right posterior costofrenic, left costovertebral, and in the inferior abdominal wall, none of them has been extirpated or has hystologic diagnosis at the moment, however radiologic findings suggest malignant schwannomas. In this moment there is no neurologic deficiency except for the secondary ones to surgical procedures, and no neurofibromatosis types I to VII signs have been observed. So, the possibility of a new neurofibromatosis type is appointed.

Adult↗
PubMedDate not supplied

[Neurofibromatosis type 1 --Recklinghausen's disease; pathogenesis and clinical symptoms].

Neurofibromatosis type 1 (NF1) or von Recklinghausen neurofibromatosis is a common autosomal dominant disorder affecting 1 in 3000 individuals. The gene for NF1 is localized on chromosome 17q11.2. The gene mutations or the inactivation its protein product--neurofibromin are responsible for the manifestation of the disease. NF1 demonstrates a wide variability of clinical symptoms classified by NIH Consensus Conference in 1987.

Chromosomes, Human, Pair 17↗
PubMed2000

Intrathoracic tumours in von Recklinghausen's neurofibromatosis.

We review our cases of a rare pathology, intrathoracic tumours in von Recklinghausen's neurofibromatosis, involving 6 patients operated upon in our Surgery Department for intrathoracic neurogenic tumors. All had had a positive history of von Recklinghausen's neurofibromatosis prior to thoracic surgery. The management of this rare condition is discussed. We describe the presentation of the symptoms, the operative technique and the long-term outcome, when obtainable. Our results are compared with those of other authors, and the management of these cases is reconsidered. In conclusion, we recommend that thoracic surgery should only be considered when the patient becomes symptomatic, since malignant changes in the tumour are possible due to operative trauma.

Adult↗
PubMed2000

[Neurofibromatosis type 2. Preliminary results of gamma knife radiosurgery of vestibular schwannomas].

BACKGROUND AND PURPOSE: The aim of this study was to assess tolerance and efficacy of gamma knife radiosurgery on vestibular schwannomas for patients affected with neurofibromatosis type 2. METHODS: Between July 1992 and December 1997, a gamma knife procedure was performed on 35 vestibular schwannomas affecting 27 patients (12 females and 15 males, mean age=27 years-old, range: 14-65). Fifteen of the patients were included in the Wishart subtype (severe form) and 12 patients in the Gardner subtype (mild form). This group of 27 patients represented 8,2% of the total group of vestibular schwannomas radiosurgically treated by our team. The mean tumor volume was 4,000 mm(3) (range: 400-14,400 mm(3)) and staging according to Koos classification was 9 stage 2 tumors (extension in the cerebellopontine angle), 19 stage 3 tumors (in contact with the brain stem or cerebellum) and 7 stage 4 tumors (compression of axial structures). The delivered mean marginal dose (50% isodose) was 13 Gy (range: 10-18 Gy). After the treatment, the mean clinical and radiological follow-up was 32 months (range: 6-70). RESULTS: Twenty six (74%) of the treated tumors were controlled by the treatment (15 stabilizations and 11 regressions of the tumor volume) at last follow-up. One microsurgical removal was required in a growing stage 4 tumor and in 2 cases of growing stage 3 tumors. Three post-radiosurgical facial nerve deficits (9%) were observed, 2 of them were transient. According to the Gardner and Robertson classification, classes I (good) and II (serviceable) hearing were preserved at last follow-up in 57% of the patients having the same hearing level prior to the gamma knife. CONCLUSIONS: Our experience confirms that tolerance of gamma knife radiosurgery compares favorably with microsurgery of bilateral vestibular schwannomas. This treatment should be restricted to small and medium growing tumors. Treatment strategy of neurofibromatosis type 2 patients should be planned by multidisciplinary experienced teams disposing of the whole armamentarium. A longer follow-up study is required to confirm the current results regarding the tumor control rate.

Adolescent↗
PubMedDate not supplied

Forearm pseudarthrosis--neurofibromatosis: case report.

A 3 1/2-year-old white girl with neurofibromatosis sustained left radius and ulna fractures. The radius was sclerotic with no medullary canal at the fracture site, and the ulna was hypoplastic distal to the fracture. The fractures failed to unite when immobilized in a long arm plaster cast for 5 months and pseudarthrosis developed. Three subsequent operative attempts to obtain union of the pseudarthrosis by means of internal fixation and bone grafting over the next 30 months were also unsuccessful, and the pseudarthrosis persisted. The forearm was supported in a custom molded leather brace until the child was 13 1/2 years old and had reached skeletal maturity. Osseous union was then operatively obtained using dual onlay tibial cortical and cancellous bone grafts. There has been no recurrence of the pseudarthrosis 3 years and 2 months after bone grafting. The author recommends postponing surgical attempts to achieve union of the forearm bone pseudarthrosis associated with neurofibromatosis until the patient reaches skeletal maturity.

Bone Neoplasms↗