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At least 793 records · Page 44Linked to original sources
PubMed2003

Giant intrathoracic meningoceles associated with cutaneous neurofibromatosis type I: case report.

BACKGROUND: Intrathoracic meningocele is a rare pathology, almost always associated with neurofibromatosis type I and with a few cases related in the literature. In the majority of cases cysts are small or asymptomatic, and the surgery is indicated when big or symptomatic cysts are present. We report a case of giant intrathoracic cysts surgically extirpated through out thoracotomy. CASE: A 59-year-old male with familiar Von Recklinghausen's disease which developed thoracic radicular pain after a fall. On examination he presented some difficulty in walking fast and dyspneia on small efforts. The chest plain x-ray showed the presence of 3 huge left side intrathoracic cysts (10 to 15cm). The patient was submitted to a surgical treatment and complete extirpation of the cysts was performed through a left side thoracotomy. During the surgery a fourth smaller cyst was detected and also extirpated. Evolution was uneventful and the patient remains well in these last 12 years. This finding of intrathoracic cysts related to neurofibromatosis type I is rare and is probably unique in the literature the presence of 4 huge cysts in one side of the thorax.

Humans↗
PubMed2006

Osteosarcoma in a patient with neurofibromatosis type 1: a case report and review of the literature.

Neurofibromatosis type 1 (NF1) or von Recklinghausen's disease is a genetic disease generally characterized by café-au-lait spots and neurofibromas. Malignant tumors of the nervous system, such as malignant schwannomas, gliomas, or astrocytomas, have been well known to coexist with neurofibromatosis. However, occurrence of malignant tumors unrelated to the nervous system is rare. We report an unusual case of a 29-year-old NF1 female suffering from malignant peripheral nerve sheath tumor (MPNST) that eventually developed osteosarcoma in the proximal femur. Osteosarcoma is the most common high-grade malignant bone tumor in which the neoplastic cells produce osteoid. At 23 and 24 years old, she underwent excision of MPNST in the left posterior thigh. No osteosarcomatous portion was identified in these specimens. The patient underwent postoperative chemotherapy. At 29, left proximal thigh pain and swelling appeared. Computed tomography demonstrated cortical bone destruction in the left proximal femur where MPNST occurred. Magnetic resonance imaging revealed extraskeletal growth of the tumor. Bone scintigraphy demonstrated increased uptake in the left proximal femur. Hip disarticulation was performed. The removed tumor was composed of highly anaplastic cells. Lace-like irregular osteoid formation was observed among the tumor cells. MPNST component was totally absent. The tumor was diagnosed as osteoblastic type osteosarcoma. Two months after disarticulation the patient died of bilateral pulmonary metastasis. The correlation between the histogenesis of osteosarcoma and the genetic abnormality in NF1 patients has not been elucidated, but the finding of osteosarcomatous transformation in this case suggests the divergent cellular differentiation to mesenchymal malignant tumors of neuroectodermal tissue in NF1 patients.

Adult↗
PubMed1992

Intramedullary subependymoma with neurofibromatosis--report of two cases.

Two cases of subependymoma in the cervical spinal cord associated with stigmata of neurofibromatosis are reported. Magnetic resonance (MR) imaging showed one tumor with a sharp margin, which was well-demarcated intraoperatively and was totally removed. MR imaging showed the other tumor with an irregular margin, which was partly invasive at operation. Subependymomas are rare in the spinal cord and these are the first reported associations with neurofibromatosis.

Adolescent↗
PubMed1999

Isolated metastases of adenocarcinoma in the bilateral internal auditory meatuses mimicking neurofibromatosis type 2--case report.

A 56-year-old male with a history of lung cancer presented with isolated metastases of adenocarcinoma in the bilateral internal auditory meatuses (IAMs), mimicking the bilateral acoustic schwannomas of neurofibromatosis type 2, and manifesting as rapidly worsening tinnitus and bilateral hearing loss. Magnetic resonance imaging showed small tumors in both IAMs with no sign of leptomeningeal metastasis. The preoperative diagnosis was neurofibromatosis type 2. Both tumors were removed and the histological diagnoses were adenocarcinoma. Neuroimaging differentiation of a solitary metastatic IAM tumor from a benign tumor is difficult, although rapidly progressive eighth cranial nerve dysfunction suggests a malignant process. Metastases should be considered as a rare diagnostic possibility in a patient with small tumors in both IAMs.

Adenocarcinoma↗
PubMed1978

The pedicle in neurofibromatosis.

Three cases of von Recklinghausen's disease (neurofibromatosis) are described, one with agenesis of a pedicle, another with multiple hypoplastic pedicles, and a third with bilateral hypoplastic pedicles producing a spondylolistesis. These peidcle deficiencies are manifestations of mesodermal dysplasia. Agenesis of the pedicle most likely represents a defect in chondrification. Hypoplasia probably represents a partial lack of development of the pedicle and the ipsilateral arch. Hypoplasia or agenesis of a pedicle should suggest the possibility of underlying neurofibromatosis.

Adolescent↗
PubMed1979

Fibrous lesions in the lower extremities in neurofibromatosis.

Multiple fibrous lesions have been noted in the lower extremities of patients with neurofibromatosis (Recklinghausen's disease). These lesions are probably a combination of fibrous cortical defects, nonossifying fibromas, and intraosseous neurofibromas. When several fibrocystic lesions frequent the knee areas in an adolescent, neurofibromatosis should be suspected.

Adolescent↗
PubMed1988

Plexiform neurofibromatosis of the mediastinum: CT appearance.

We studied the CT findings in four patients with pathologically proved thoracic plexiform neurofibromatosis. In all four patients, CT showed an infiltrative process and masses that involved the mediastinum along the distribution of the sympathetic chains, phrenic, and vagus nerves. The lesions had lower attenuation values than did chest-wall muscle. In one patient, CT revealed calcifications and peripheral enhancement of nodular components after IV infusion of contrast material. In the appropriate clinical setting, CT detection of lesions in the distribution of the mediastinal nerves strongly favors the diagnosis of plexiform neurofibromatosis.

Adult↗
PubMed1992

Evolution of white matter lesions in neurofibromatosis type 1: MR findings.

To characterize further the evolution of white matter lesions in neurofibromatosis type 1, we reviewed 68 MR images in 43 patients (age, 1-31 years), including 25 follow-up studies (mean interval, 27 months). Lesion number, location, morphology, signal characteristics, and contrast enhancement were assessed. Lesion characteristics and changes thereof were correlated with the patients' ages. Thirty-four patients (79%) had white matter lesions. These lesions were hyperintense on T2-weighted images, were isointense on T1-weighted images, and showed no mass effect or contrast enhancement in 31 patients; in three patients, T1-prolongation was observed (one with significant mass effect). None of the lesions evolved into a glioma. The most common locations were the cerebellum (49%), brainstem (22%), and internal capsule (19%). Nineteen patients had white matter lesions and follow-up studies. Lesions decreased in size or number in seven patients (average age, 13 years), showed no change in three (average age, 12 years), increased in size or number in four (average age, 5 years), and showed a mixed pattern (increased/decreased size/number) in four (average age, 7 years). White matter lesions in neurofibromatosis type 1 frequently increase in size or number early in childhood; this did not indicate neoplasia in our study. The lesions tend to resolve with increasing age. Lesion progression in a child more than 10 years old warrants close follow-up to rule out a neoplasm.

Adolescent↗
PubMed1988

MRI diagnosis of vertebral arteriovenous malformations in neurofibromatosis.

We describe two patients with neurofibromatosis, each of whom was found to have an arteriovenous malformation (AVM), an uncommon manifestation of the disease, presenting as an extradural space-occupying lesion in the cervical spine. In one patient the finding of an unsuspected AVM at operation led to massive blood loss; in the other magnetic resonance imaging (MRI) of the neck allowed the diagnosis to be made and the hazard of an operation to be avoided. Solid tumours that may occur in the disease of neurofibromatosis are known to cause neurological deficits as the result of space occupation. We wish to draw attention to another pathological entity which may cause neurological deficits: that of AVMs. We also propose that in the investigation of such a patient MRI be borne in mind as a non-invasive radiological tool, particularly as, hopefully, its cost reduces and its availability becomes more widespread.

Adult↗
PubMed1988

Somatomedin C as tentative pathogenic factor in neurofibromatosis.

The distribution of somatomedin C (Sm-C; insulin-like growth factor I; IGF-I) immunoreactivity was examined in biopsies from three patients having the diagnosis neurofibromatosis established on clinical and histopathological criteria. All biopsies showed increased Sm-C immunoreactivity limited to areas with neurofibromas. Schwann cells, adjacent spindle-shaped fibroblast-like cells and newly formed blood vessels were positive. In addition, Sm-C immunoreactivity could be demonstrated in cells in the buccal epithelium. There was faint or no Sm-C immunoreactivity in biopsies from normal tissue of the patients and in specimens from control subjects. We propose that an abnormally increased local production of Sm-C, most likely by Schwann cells, forms a link in the chain of pathogenic events resulting in the disease neurofibromatosis.

Adult↗
PubMedDate not supplied

Lethal manifestations of neurofibromatosis type 1 in childhood.

Neurofibromatosis type 1 (NF-1), also known as peripheral neurofibromatosis or von Recklinghausen's disease, is a common inherited neurocutaneous syndrome. Complications of the disease are numerous and may be fatal, but because the frequency of potentially lethal complications increases with age, deaths from the disease are often thought to occur only in adults. Examination of autopsy records at the Adelaide Children's Hospital for the period 1952 to 1991 revealed four cases of children with NF-1. These cases illustrate a number of interesting pathologic features including a proliferative glial infiltrate involving the subarachnoid space, two primary gliomas within the same patient, gliomatosis cerebri, and sudden death due to massive intratumoral hemorrhage.

Abdominal Neoplasms↗
PubMed1976

Congenital pseudarthrosis of the tibia and neurofibromatosis.

On the basis of 21 cases of congenital pseudarthrosis of the tibia, which were radiologically typed and later personally examined, it was found that all cases of the dysplastic type also showed evidence of neurofibromatosis. No evidence of neurofibromatosis was found among the cystic and the clubfoot type of pseudarthroses.

Humans↗
PubMed1983

Atlantoaxial dislocation associated with neurofibromatosis. Report of three cases.

Atlantoaxial dislocation was found in three patients with neurofibromatosis. Roentgenographic findings included marked reduction of sagittal diameter at the C-1 vertebral level, and cervical spine abnormalities associated with mesodermal dysplasia, such as posterior scalloping of the cervical spinal bodies with dural ectasia and vertebral body deformity (vertebral body dysplasia). Although the relationship of the atlas and axis did not change with neck position, all three patients had progressive neurological deficits and were treated by decompressive surgery combined with fusion. The pathogenesis of atlantoaxial dislocation associated with neurofibromatosis is discussed.

Adult↗
PubMed2003

Age at symptom onset and long-term survival in patients with neurofibromatosis Type 2.

OBJECT: Neurofibromatosis Type 2 (NF2) is an intractable disorder predisposing to multiple, recurrent tumors of the central nervous system (CNS). To clarify the survival rate and characteristics that predict poor survival, we retrospectively reviewed clinical data in cases of NF2. METHODS: From among 283 patients with neurofibromatosis who had been registered in a nationwide study in Japan between 1986 and 1987, 74 patients with bilateral vestibular schwannomas were analyzed. The mean duration of follow up after diagnosis was 121 months (range 2-287 months). Results of a Kaplan-Meier product-limit analysis indicated that overall 5-, 10-, and 20-year patient survival rates following diagnosis of NF2 were 85, 67, and 38%, respectively. Early onset of the initial symptom significantly compromised survival; 5-, 10-, and 20-year survival rates in patients with symptom onset at an age younger than 25 years were 80, 60, and 28%, respectively, whereas in patients with symptom onset at an age of 25 years or older the rates were 100, 87, and 62%, respectively. Patients with small vestibular schwannomas at diagnosis (< 2 cm in diameter) had better rates of survival. Other variables such as sex, additional tumors in the CNS, or dermal abnormalities did not significantly affect survival. CONCLUSIONS: This first report of long-term follow-up results concerning the survival of patients with NF2 indicates an adverse effect of early symptom onset.

Adult↗
PubMedDate not supplied

Absence of a sphenoid wing in neurofibromatosis type 1 disease: imaging with multidetector computed tomography.

Neurofibromatosis type 1 disease is characterized by pigmented cutaneous lesions and generalized tumors of a neural crest origin and it may affect all the systems of the human body. Sphenoid dysplasia is one of the characteristics of this syndrome and it occurs in 5-10% of the cases; further, abnormalities of the sphenoid wings are often considered pathognomonic. However, complete agenesis of a sphenoid wing is very rare. We report here on an unusual case of neurofibromatosis type 1 disease with the associated absence of a sphenoid wing that was diagnosed by using multidetector computed tomography.

Adult↗
PubMed2005

Malignant peripheral nerve sheath tumor in neurofibromatosis type I: unusual presentation of intraabdominal or intrathoracic mass.

A malignant peripheral nerve sheath tumor (MPNST) is an extremely rare soft tissue tumor in the general population. On the other hand, there is a higher incidence of MPNST in patients with neurofibromatosis type I (von Recklinghausen's disease). The common sites are the extremities, trunk, head and neck. However, an intraabdominal or intrathoracic manifestation is uncommon. This paper reports two patients, a 31 year-old woman with multiple neurofibromatosis presenting as an intraabdominal malignant peripheral nerve sheath tumor, and a 33 year-old woman with an intrathoracic malignant peripheral nerve sheath tumor. The patients were treated with chemotherapy followed by radiotherapy. However, one patient died as a result of disease progression 21 months after the diagnosis and the other patient is currently being treated with radiotherapy.

Abdominal Neoplasms↗
PubMedDate not supplied

Combined hamartoma of the retina and retinal pigment epithelium in a patient with neurofibromatosis type 2.

We describe a young patient with combined hamartoma of the retina and retinal pigment epithelium who developed bilateral acoustic neuromas and meningiomas of the cervical-medullary junction and fifth cranial nerve. This case illustrates the association between combined hamartoma of the retina and retinal pigment epithelium and neurofibromatosis type 2. The authors recommend that children with a combined hamartoma of the retina and retinal pigment epithelium be screened for neurofibromatosis type 2.

Fluorescein Angiography↗
PubMedDate not supplied

Persistent hyperplastic primary vitreous in association with neurofibromatosis 2.

We describe a father and son with persistent hyperplastic primary vitreous occurring in association with neurofibromatosis 2. This report demonstrates rare vertical transmission compatible with autosomal dominant inheritance and the uncommon association of the autosomal dominant systemic disorder neurofibromatosis 2.

Adult↗