1/29. Germline hMSH2 and differential somatic mutations in patients with Turcot's syndrome.Turcot's syndrome is characterized clinically by the occurrence of primary brain tumor and colorectal tumor and has in previous reports been shown to be associated with germline mutations in the genes APC, hMLH1, and hPMS2. Here we describe three patients with Turcot's syndrome, each having colorectal adenocarcinoma and malignant glioma. All the colorectal and brain tumors from these patients showed replication errors in most of the microsatellite loci investigated. Search for underlying germline mutations in the nucleotide mismatch repair genes revealed three different hMSH2 mutations. All colorectal tumors showed a frameshift in the A(10) tract in the coding sequence of the transforming growth factor beta type II receptor (TGFBRII) gene, but no such change was detected in any of the brain tumors. frameshift mutation in the BAX gene was found in one colon carcinoma and mutations in insulin-like growth factor type II receptor (IGFIIR) gene in one glioma. Our data have broadened the possible mutation spectrum of patients with Turcot's syndrome. The difference in the mutation spectrum of TGFBRII, BAX, and IGFIIR between brain and colorectal tumors in these individuals suggests that the mutator phenotype may target different pathogenic pathways in the oncogenic process of the two organs.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
2/29. Bilateral diaphragm paralysis secondary to central von Recklinghausen's disease.Bilateral paralysis of the diaphragm is either idiopathic or associated with several medical conditions, including trauma or thoracic surgery, viral infections, and neurologic congenital or degenerative disorders. We describe the case of a 36-year-old man with a history of neurofibromatosis who developed severe bilateral diaphragmatic paralysis from involvement of the phrenic nerve roots with neurofibromas. The patient manifested progressive exertional dyspnea and debilitating orthopnea requiring the use of noninvasive mechanical ventilation at night. A review of the literature reveals that neurofibromatosis is an unrecognized cause of diaphragmatic paralysis.- - - - - - - - - - ranking = 6.107430923937keywords = nerve (Clic here for more details about this article) |
3/29. Transmaxillary excision of a rare cavernous hemangioma of the infratemporal fossa.Cavernous hemangiomas that manifest as a primary tumor of the infratemporal fossa are exceedingly rare. We report such a case in a 40-year-old woman. Her lesion was excised via a transantral anterior approach. Although this approach is usually recommended only for biopsy, in selected cases it can be used to excise a lesion without causing any significant complications. We recommend the transantral anterior approach for relatively small, benign lesions that show no evidence of invasion into surrounding tissues because it does not expose the patient to surgical complications such as transient or permanent facial nerve injury or cosmetic deformity.- - - - - - - - - - ranking = 6.107430923937keywords = nerve (Clic here for more details about this article) |
4/29. Seven cases of breast cancer recurrence limited to the central nervous system without other visceral metastases.We report 7 rare cases of recurrent breast cancers who presented with central nervous system (CNS) metastases as the initial relapse site without any other organ metastases. The average age of the patients at surgery was 42.6 years old of age (median 45:range 32-60), and 6 of the 7 cases (86%) were premenopausal. The mean disease-free period was 25.7 months (median 22, range 2-60 months). The primary tumors were all invasive ductal carcinomas. The estrogen receptor and progesterone receptor status of the 3 tumors available for study were all negative. The metastatic CNS lesions included the cerebrum (4 cases), cerebellum, cervical spinal cord, and meninges. In 6 out of these 7 cases (86%), the CNS metastasis was the initial recurrent lesion. Multidisciplinary treatments including surgery, radiotherapy and systemic or intrathecal chemotherapy were given. Although the mean survival time from clinical manifestations of the metastases of the 4 deceased patients was 20 months (median 20.5; range 6-33), one patient treated with surgery and radiotherapy is been still alive18 years later. These cases were also notable for the fact that the only metastatic site was in the CNS only during the entire clinical course, except for 2 cases, one with ocular adnexa metastasis, and the other with cervical lymph node metastasis. Premenopausal patients with negative hormone receptor status are more likely to develop this type of recurrence, regardless of the histological type. It is necessary to pay attention to neurological symptoms and signs during follow-up of breast cancer patients.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
5/29. Isolated neurosarcoidosis - MR findings and pathologic correlation.Neurosarcoidosis is a diagnostic challenge, especially if systemic symptoms are absent. We present a 49-year-old woman with isolated neurosarcoidosis. The main symptom was loss of vision in the left eye. Brain MR imaging showed 6 high-signal white matter lesions frontotemporally on proton density and T2-weighted turbo spin-echo images. Coronal fat-saturated turbo FLAIR images of the orbits showed a swollen left optic nerve with increased signal intensity, which finding has not been previously published in sarcoid optic neuropathy. A control MR examination showed meningeal enhancement of the left optic nerve and leptomeningeal enhancing lesions around the brain stem. Spinal MR revealed leptomeningeal enhancement throughout the spinal cord and asymptomatic enhancing cauda equina lesions, mimicking subarachnoid tumour seeding, and an enhancing nerve root mass at Th12/L1. biopsy of the latter lesion revealed non-caseating granulomas consistent with sarcoidosis.- - - - - - - - - - ranking = 18.322292771811keywords = nerve (Clic here for more details about this article) |
6/29. Cavernous haemangioma in the interpeduncular cistern: case report and review of literature.A rare case of a cavernous haemangioma in the interpeduncular cistern is reported. The patient, forty-five year old male presented with excruciating left sided trigeminal neuralgia and diplopia for the past one year. Examination revealed left third and fifth nerve paresis. magnetic resonance imaging showed a well-defined, lobulated tumour in the interpeduncular cistern. The tumour was totally excised through a subtemporal route. histology of the tumour revealed a cavernous haemangioma. Extracerebral location for a cavernous haemangioma is rare. An interpeduncular cavernous haemangioma has never been reported earlier in literature. The clinical and radiological features are discussed and relevant literature is briefly reviewed.- - - - - - - - - - ranking = 6.107430923937keywords = nerve (Clic here for more details about this article) |
7/29. Diffuse neonatal hemangiomatosis associated with Simpson-Golabi-Behmel syndrome: a case report.Diffuse neonatal hemangiomatosis (DNH) is a rare disorder characterized by multiple cutaneous and visceral hemangiomas that usually presents in newborns and has a high mortality rate.While previously reported cases of DNH describe multiple cutaneous hemangiomas, we present a patient with a single hemangioma of the ear, who also had DNH of the central nervous system and visceral organs. Furthermore, in this report we present a new constellation of findings, namely, a Simpson-Golabi-Behmel syndrome (SGBS). The practical implication on the basis of the experience with our patient is the need to ensure adequate diagnostics for patients with large hemangiomas as well as for patients with multiple cutaneous hemangiomas, because DNH also can occur in single hemangiomas in rare cases.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
8/29. Encephalocraniocutaneous lipomatosis: a case with unilateral odontomas and review of the literature.We report a 7-year-old boy with the typical features of encephalocraniocutaneous lipomatosis (ECCL) including unilateral skin, eye, bone, and asymptomatic central nervous system involvement. The presenting sign were numerous ipsilateral odontomas which have been described in only two previous patients so far. We reviewed all 32 cases reported to date and focus on the dermatological hallmark of the condition, namely a fatty tissue naevus of the scalp for which the term naevus psiloliparus was recently coined. Sporadic occurrence, patchy type of organ involvement and roughly balanced sex ratio in ECCL are compatible with the concept of a lethal autosomal mutation only surviving in a mosaic state. CONCLUSION: In children presenting with a congenital smooth hairless lesion on the scalp, the diagnosis of naevus psiloliparus should be considered and other signs of encephalocraniocutaneous lipomatosis should be looked for.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
9/29. Aberrant nerve fibres within the central nervous system.Three cases of aberrant nerve fibres in the spinal cord and medulla oblongata are described. The literature on these fibres is discussed and their possible role in regeneration. Different views on the possibility of regeneration or functional recovery of the central nervous system are mentioned in the light of recent publications, which are more optimistic than before.- - - - - - - - - - ranking = 30.537154619685keywords = nerve (Clic here for more details about this article) |
10/29. Solitary cervical lymphoma presenting as a neurofibroma.A patient is described who presented with cervical cord compression. The imaging and operative findings were typical of a neurofibroma of the right third cervical root. However, histological studies confirmed that the tumour was a B-cell lymphoma. Isolated spinal lymphomas can therefore occur and may present as nerve sheath tumours.- - - - - - - - - - ranking = 6.107430923937keywords = nerve (Clic here for more details about this article) |
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