1/29. lambert-eaton myasthenic syndrome with ophthalmoparesis and pseudoblepharospasm.We report a patient initially diagnosed as having ocular myasthenia gravis who showed progressive ophthalmoparesis and pseudoblepharospasm together with positive acetylcholine receptor antibodies. Repeated evaluation with high-frequency repetitive stimulation revealed an incremental response and elevated titers of antibodies against presynaptic calcium channels, confirming lambert-eaton myasthenic syndrome. Systemic evaluation revealed no malignant neoplasm but revealed euthyroid Hashimoto's disease. Immunomodulative therapy including plasma exchange and administration of an immunosuppressent (azathioprine) combined with a potassium-channel blocker (3,4-diaminopyridine) reduced the ocular abnormalities. We conclude that the ocular manifestations in this patient were probably caused by lambert-eaton myasthenic syndrome.- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
2/29. Calcifying pseudoneoplasms of the spine with myelopathy. Report of two cases.The authors describe two cases of calcifying pseudoneoplasms, rare degenerative lesions that mimic tumor or infection. One case involved the cervical spine and the second the thoracic spine. Both patients experienced progressive myelopathy from extradural compression of the spinal cord. The radiological evaluation, pathological findings in the lesions, treatment, and follow up are described. Total or subtotal excision can relieve symptoms and prevent recurrence of this lesion.- - - - - - - - - - ranking = 5keywords = neoplasm (Clic here for more details about this article) |
3/29. Deaths of children during an outbreak of hand, foot, and mouth disease in sarawak, malaysia: clinical and pathological characteristics of the disease. For the Outbreak Study Group.From April through June 1997, 29 previously healthy children aged <6 years (median, 1.5 years) in Sarawak, malaysia, died of rapidly progressive cardiorespiratory failure during an outbreak of hand, foot, and mouth disease caused primarily by enterovirus 71 (EV71). The case children were hospitalized after a short illness (median duration, 2 days) that usually included fever (in 100% of case children), oral ulcers (66%), and extremity rashes (62%). The illness rapidly progressed to include seizures (28%), flaccid limb weakness (17%), or cardiopulmonary symptoms (of 24 children, 17 had chest radiographs showing pulmonary edema, and 24 had echocardiograms showing left ventricular dysfunction), resulting in cardiopulmonary arrest soon after hospitalization (median time, 9 h). Cardiac tissue from 10 patients showed normal myocardium, but central nervous system tissue from 5 patients showed inflammatory changes. brain-stem specimens from 2 patients were available, and both specimens showed extensive neuronal degeneration, inflammation, and necrosis, suggesting that a central nervous system infection was responsible for the disease, with the cardiopulmonary dysfunction being neurogenic in origin. EV71 and possibly an adenovirus, other enteroviruses, or unknown cofactors are likely responsible for this rapidly fatal disease.- - - - - - - - - - ranking = 402.71051282203keywords = central nervous system, nervous system (Clic here for more details about this article) |
4/29. Intramedullary spinal cord metastasis as a first manifestation of a renal cell carcinoma: report of a case and review of the literature.The authors report the case of a 70-year-old woman who developed a Brown-Sequard-syndrome within 6 weeks caused by an intramedullary spinal cord metastasis of an occult renal cell carcinoma. Intramedullary metastases are rare and represent only 4-8.5% of central nervous system metastases. An important feature of intramedullary metastases is the rapid progression of neurological deficits which necessitates rapid treatment. There are only eight earlier reports of intramedullary metastasis due to renal cell carcinoma (Schiff D, O'Neill BP. Intramedullary spinal cord metastases: clinical features and treatment outcome. neurology 1996;47:906-12; Belz P. Ein Fall von intramedullaerer Grawitz-Metastase im Lumbalmark. Frankfurt Z Pathol 1912;10:431-44; Gaylor JB, Howie JW. Brown-Sequard-syndrome. A case of unusual aetiology. J Neurol Neurosurg psychiatry 1938;1:301-5; Kawakami Y, Mair WGP. Haematomyelia due to secondary renal carcinoma. Acta Neuro Pathol 1973;26:85-92; Strang RR. Metastatic tumor of the cervical spinal cord. Med J Aust 1962;1:205-6; Von Pfungen. Uber einige Falle von Haematomyelie nichttraumatischen Ursprungs. Wien Klin Rdsch 1906;20:44-50; Weitzner S. Coexistent intramedullary metastasis and syringomyelia of cervical spinal cord. Report of a case. neurology 1960;674-8). To the best of our knowledge this is the first report on a patient in whom symptoms from the metastasis of a renal cell carcinoma preceded the detection of the primary tumor. This report presents the clinical, neuroradiological and histopathological findings of an intramedullary metastasis of a renal cell carcinoma and provides an overview of the literature on intramedullary spinal cord metastases.- - - - - - - - - - ranking = 201.35525641101keywords = central nervous system, nervous system (Clic here for more details about this article) |
5/29. Facial and skeletal malformations, mental retardation, aganglionosis, and neurogenic muscle weakness: a variant of Niikawa-Kuroki syndrome or a new syndrome?We report a 10-year-old boy with multiple congenital anomalies/mental retardation syndrome, who also presented with aganglionosis and neurogenic muscle weakness. Some phenotypic manifestations of our patient overlap with those observed in the Niikawa-Kuroki syndrome; however, the hypothesis of a new distinct entity, with simultaneous involvement of the central and peripheral nervous system, is considered.- - - - - - - - - - ranking = 75.093916328105keywords = nervous system (Clic here for more details about this article) |
6/29. radiation therapy and combination of cladribine, cyclophosphamide, and prednisone as treatment of Bing-Neel syndrome: Case report and review of the literature.Waldenstrom's macroglobulinemia is a low-grade lymphoma that produces monoclonal IgM. central nervous system symptoms are frequent in Waldenstrom's macroglobulinemia, mostly associated with blood hyperviscosity. Nevertheless, central nervous system infiltration by malignant cells (Bing-Neel syndrome) has rarely been reported. We describe the case of a 72-year-old man with Waldenstrom's macroglobulinemia and central nervous system infiltration by malignant cells with tumor formation. All similar cases reported in the literature are reviewed and the different therapeutic approaches discussed.- - - - - - - - - - ranking = 477.80442915013keywords = central nervous system, nervous system (Clic here for more details about this article) |
7/29. tuberculoma of the conus medullaris: case report.OBJECTIVE AND IMPORTANCE: Intramedullary spinal tuberculoma is a rare form of central nervous system tuberculosis. This article describes an affected patient who presented with left leg paresis. CLINICAL PRESENTATION: A 46-year-old man presented with a 7-day history of left leg weakness. The patient's medical history included infection with pulmonary tuberculosis 15 years previously, at which time he had been treated with antituberculosis therapy. The neurological examination performed at admission revealed left leg paresis with Grade 2/5 power in all muscle groups. The patient reported no urinary or bowel problems. INTERVENTION: Surgery was performed with the patient in the prone position. The procedure involved laminectomies at T11, T12, and L1, followed by a midline myelotomy. The mass was excised completely. Histopathological examination revealed a granulomatous lesion that contained Langhans' giant cells, inflammatory cells, and evidence of caseating necrosis. The patient was prescribed a 6-month course of antituberculosis therapy with pyrazinamide, isoniazid, and rifampin. CONCLUSION: The outcome was favorable. Recently, a number of authors have reported success with medical management of intraspinal tuberculoma. Intraspinal tuberculoma produces a mass effect that can jeopardize spinal cord function. The optimal treatment is a combination of microsurgical resection and antituberculosis chemotherapy.- - - - - - - - - - ranking = 201.35525641101keywords = central nervous system, nervous system (Clic here for more details about this article) |
8/29. Multifocal motor neuropathy and asymptomatic Hashimoto's thyroiditis: first report of an association.Motor neuropathy with multifocal conduction blocks represents a recently identified autoimmune disorder of the peripheral nerve myelin. association of motor neuropathies or neuronopathies with thyroid disorders, such as hyperthyroidism, hypothyroidism or thyroid neoplasms has been rarely described. We studied a 61-year-old man with a 2-year-history of slowly progressive weakness of the left limbs with atrophy and fasciculations. Nerve conduction velocity studies revealed multifocal motor conduction blocks. serum IgM titer of antibodies against GM1 was elevated (1:1280; n.v. up to 1:640). Thyroid studies were compatible with Hashimoto's thyroiditis. Therapy with high dose intravenous immunoglobulins was followed by a prompt clinical recovery. Then the disease assumed an intravenous immunoglobulins dependent course with a full clinical, but transient, recovery. This is the first observation of an association of multifocal motor neuropathy with high titers of GM1 and Hashimoto's thyroiditis and reinforces the multifocal motor neuropathy autoimmune origin as well as the repeated clinical recoveries after intravenous immunoglobulins. This case also suggests to deeply investigate the thyroid function in patients with multifocal motor neuropathy.- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
9/29. scoliosis in a patient with alexander disease.alexander disease is a rare, degenerative disorder of the central nervous system. It is characterized clinically by spasticity, seizures, dementia, loss of developmental milestones, and macrocephaly. Here we describe a 13-year-old boy with alexander disease and severe scoliosis. The patient initially presented at 9 months of age, with profound mental retardation and a history of seizures. When he was 7 years old, a pediatrician had diagnosed alexander disease (hypotonia, macrocephaly, and progressive low-density white matter predominantly in the frontal region on computed tomography examination). From the age of 10, thoracolumbar scoliosis had gradually become severe. Because treatment using a corrective brace would have produced major problems because of the patient's mental retardation, the scoliosis was successfully treated surgically, by careful posterior spinal fusion with instrumentation, and an autologous iliac crest bone graft. A 64 degrees curve was corrected to 18 degrees (72% correction). scoliosis with alexander disease is considered to be very rare because patients with the disease seldom survive long enough to develop spinal deformities.- - - - - - - - - - ranking = 201.35525641101keywords = central nervous system, nervous system (Clic here for more details about this article) |
10/29. Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked charcot-marie-tooth disease.OBJECTIVES: To clarify the clinical variability, including central nervous system (CNS) involvement, in X-linked charcot-marie-tooth disease (CMTX) patients. MATERIAL AND methods: We clinically, pathologically and genetically studied six CMTX patients with distinct symptoms and four different GJB1 mutations. RESULTS: One patient with Val63Ile had deafness, low intelligence, saccadic eye movement, upper extremity distal dominant muscle weakness and normal sensation. Another patient with Glu186Lys had severe sensorineural deafness at the age of 6 years, but did not develop muscle weakness until the age of 20 years. Two patients with Arg22Gln had typical CMT1A-like clinical features, no CNS symptoms and obvious onion bulb formations. Two siblings with deletion of the entire GJB1 gene had mild to moderate lower extremity muscle weakness and sensory disturbance without CNS involvement. CONCLUSION: These findings suggest that some gain of function mutations of GJB1 may be related to CNS symptoms because the patients with GJB1 deletion only had peripheral neuropathy, although other unknown associated factors may contribute to their clinical phenotypes.- - - - - - - - - - ranking = 1006.7762820551keywords = central nervous system, nervous system (Clic here for more details about this article) |
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