1/33. Multiple coronary aneurysms in a patient with neurofibromatosis type 1: case report and intravascular ultrasound of aneurysm.A 54 year old woman with neurofibromatosis type 1 (NF-1) was found to have multiple coronary aneurysms. Intraoperative intravascular ultrasound (IVUS) revealed severe coronary disease proximal to the aneurysm that had not been apparent angiographically. An IVUS picture of one of the giant coronary aneurysms is also shown. The vascular manifestations of neurofibromatosis and the causes of coronary aneurysms are reviewed.- - - - - - - - - - ranking = 1keywords = giant (Clic here for more details about this article) |
2/33. gynecomastia in type-1 neurofibromatosis with features of pseudoangiomatous stromal hyperplasia with giant cells. Report of two cases.We describe the histological finding in two cases of gynecomastia in patients with von Recklinghausen's disease. The histological and immunohistochemical features of the two cases were reviewed and compared with those of five cases of gynecomastia in men without clinical evidence of neurofibromatosis. In both patients bearing von Recklinghausen's disease, the breast stroma showed features consistent with pseudoangiomatous stromal hyperplasia (PASH). It was characterised by anastomosing empty spaces lined by spindle and multinucleated giant cells which were positive with CD34 and anti-vimentin antisera and negative with anti-FVIII and CD31 antisera. In two of five of the control cases without neurofibromatosis, the mammary stroma showed focal areas with features of PASH, but no multinucleated giant cells were present in any case. PASH with giant cells should be recognised as a feature of gynecomastia in von Recklinghausen's disease. The presence of multinucleated giant cells is very unusual and, although more cases have to be studied, these cells seem to be a feature of PASH occurring in patients with von Recklinghausen's disease.- - - - - - - - - - ranking = 8keywords = giant (Clic here for more details about this article) |
3/33. Malignant schwannoma of the sciatic nerve originating in a spinal plexiform neurofibroma associated with neurofibromatosis type 1--case report.A 26-year-old man with neurofibromatosis type 1 (NF1) presented with a giant malignant schwannoma of the sciatic nerve. The differential diagnosis of malignant peripheral nerve sheath tumor (MPNST) was based on clinical, radiological, and histological evidence. The tumor apparently originated in a spinal plexiform neurofibroma. The lesion was resected totally without neural damage to the sciatic nerve. However, the tumor recurred within 2 months. The patient died of unknown factors probably associated with the spinal involvement. MPNST associated with NF1 has a poor prognosis due to recurrence or metastasis despite complete macroscopic removal.- - - - - - - - - - ranking = 1keywords = giant (Clic here for more details about this article) |
4/33. Phakomatosis pigmentovascularis and Lisch nodules. Relationship between Von Recklinghausen and phakomatosis pigmentovascularis?In 1947, Ota described a malformative syndrome associating a vascular component (nevus flammeus) with melanocytic or epidermic nevi, which he named phakomatosis pigmentovascularis (PPV). We will discuss the case of a 10-year-old boy presenting giant nevus flammeus, nevus spillus, asymmetry in the development of both lower limbs, characteristic of PPV, together with interventricular communication and Lisch nodules, representative of Von Recklinghausen's disease. We believe that this case can be classified as PPV type IIb, associated with Lisch nodules and rarely described in Caucasian individuals.- - - - - - - - - - ranking = 1keywords = giant (Clic here for more details about this article) |
5/33. neurofibromatosis 1: a novel NF1 mutation in an 11-year-old girl with a giant cell granuloma.We report an 11-year-old girl who presented with a painless unilateral enlargement of the nasal bridge. Because of multiple cafe-au-lait spots and a positive family history, neurofibromatosis 1was diagnosed. On a computed tomographic scan, a unilocular radiolucency measuring 1.2 x 2 cm was seen in the anterior wall of the maxillary sinus, which was surgically removed. histology revealed a central giant cell granuloma. hyperparathyroidism, which can present with an osseous tumor and similar histology, was excluded. Molecular analysis uncovered a novel splice mutation (A4268G) in this neurofibromatosis 1 family, affecting our patient as well as her mother and brother. This article focuses on the variability of the neurofibromatosis 1 phenotype in this family and the possible relationship between central giant cell granuloma and neurofibromatosis 1.- - - - - - - - - - ranking = 6keywords = giant (Clic here for more details about this article) |
6/33. Multidisciplinary management of giant malignant endo-thoracic nerve sheath tumor.Malignant degeneration of neurogenic tumors has been reported to occur in 1-25% of patients with neurofibromatosis-I, and is the leading cause of cancer-related death in these patients. We report a case of multidisciplinary management of a giant malignant endothoracic nerve sheath tumor leading to histologically proven remission.- - - - - - - - - - ranking = 5keywords = giant (Clic here for more details about this article) |
7/33. 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.- - - - - - - - - - ranking = 1keywords = giant (Clic here for more details about this article) |
8/33. A case of neurofibromatosis-noonan syndrome with a central giant cell granuloma.Neurofibromatosis Type 1 (NF1) is one of the most common autosomal dominant diseases affecting multiple systems including the vascular, skeletal, and central nervous system. noonan syndrome (NS) is an autosomal dominant genetic disorder, associated with musculoskeletal and skin manifestations. Coexistence of central giant cell lesions in patients with both NS and NF1 were reported in the literature. Development of multiple central giant cell lesions in a patient with a noonan syndrome has been referred to as Noonan-like syndrome. A few cases with features of NF1 and NS have been termed as NF1-NS. Here, we present a case of so-called NF-NS associated with a central giant cell lesion.- - - - - - - - - - ranking = 7keywords = giant (Clic here for more details about this article) |
9/33. Giant malignant peripheral nerve sheath tumor of the neck in a patient with neurofibromatosis-1.Sixteen-year-old mentally retarded male patient presented with a giant malignant peripheral nerve sheath tumor (MPNST) on his neck. Surgery was the chosen method of treatment by the help of a neurosurgeon for dissecting the mass from the nerves of the brachial plexus and a thoracic surgeon for removing the mass from the superior mediastinum. A mass of 2 kg in weight was excised gross totally. He had an early recurrence in the second month of the follow-up period despite postoperative irradiation therapy. He died of his disease due to the compression of vena cava superior.- - - - - - - - - - ranking = 1keywords = giant (Clic here for more details about this article) |
10/33. Heavily lipidized, calcified giant cell glioblastoma in an 8-year-old patient, associated with neurofibromatosis type 1 (NF1): report of a case with long-term survival.Giant cell glioblastoma (GCG-BM) with predominance of bizarre, multinucleated giant cells is a rare subtype of glioblastoma, however, its clinical behavior and histological features are still not fully understood. We report an unusual case of a heavily lipidized form of giant cell glioma corresponding mostly to GCGBM in a young patient with neurofibromatosis 1 (NF1). Histologically, the tumor revealed numerous characteristic histopathological features of giant cell glioblastoma including cellular pleomorphism with numerous giant tumor cells, pseudopalisades around necrotic foci and mitotic activity, accompanied by additional unique morphological elements such as massive lipidization of the neoplastic cells, abundant microcalcifications and angiomatous pattern of vascularization. Such aberrant morphology might be associated with the unusually long survival period of 12 years without clinical evidence of tumor recurrence. The coexistence of intracerebral heavily lipidized, calcified giant cell glioblastoma with NF1 has not been previously reported in literature.- - - - - - - - - - ranking = 9keywords = giant (Clic here for more details about this article) |
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