1/367. The rontgenographic findings in the acute neuronopathic form of Niemann-Pick disease.The rontgenographic changes are described in two patients with the acute neuronopathic form of Niemann-Pick disease. These consist of metaphyseal splaying, osteoporosis and the quadrate appearance of the lumbar vertebrae with relatively long pedicles. The parenchymatous involvement is manifested by interstitial lung changes, enlargement of liver, spleen and kidney and distended intestinal loops with an abnormal mucosal pattern associated with prolonged transit time of the contrast material. The differential diagnosis of the above changes is discussed.- - - - - - - - - - ranking = 1keywords = neuron (Clic here for more details about this article) |
2/367. Antiamphiphysin antibodies are associated with various paraneoplastic neurological syndromes and tumors.BACKGROUND: Antiamphiphysin antibodies react with a 128-kd protein found in synaptic vesicles.They were first described in patients with paraneoplastic stiff-man syndrome and breast cancer, but studies suggest that they can also occur in patients with other tumors and neurological disorders. OBJECTIVE: To determine if antiamphiphysin antibodies are associated with various paraneoplastic neurological syndromes and tumors. patients AND methods: Of 2800 serum samples tested by routine immunohistochemical procedures on sections of paraformaldehyde-fixed rat brain for the detection of autoantibodies associated with paraneoplastic neurological syndromes, 5 were selected because of labeling suggestive of antiamphiphysin antibodies and subsequently confirmed by the results of Western blot analysis using recombinant amphiphysin protein. Controls consisted of 40 patients with various nonparaneoplastic neurological diseases; 101 patients with cancer but without paraneoplastic neurological syndrome; 9 patients with small cell lung cancer, anti-Hu antibodies, and paraneoplastic neurological syndrome; 3 patients with M2-type antimitochondrial antibodies but no neurological disorder; and 30 normal subjects. RESULTS: Of the 5 patients with antiamphiphysin antibodies, patient 1 had sensory neuronopathy, encephalomyelitis, and breast cancer; patient 2 had limbic encephalitis, and small cell lung cancer was detected in the mediastinum after 24 months of follow-up; patient 3 had encephalomyelitis and ovarian carcinoma; and patients 4 and 5 had lambert-eaton myasthenic syndrome and small cell lung cancer (patient 4 subsequently developed cerebellar degeneration). None of the 5 had stiffness. Two patients (Nos. 2 and 4) had antimitochondrial antibodies. The two patients (Nos. 4 and 5) with lambert-eaton myasthenic syndrome had antibodies directed against the voltage-gated calcium channel, and patient 2 subsequently developed anti-Hu antibodies. In the controls, antiamphiphysin antibodies were detected by Western blot analysis in 3 of 8 patients with anti-Hu antibodies, but in none of the other groups. CONCLUSIONS: These data indicate that antiamphiphysin antibodies are not specific for one type of tumor or one neurological syndrome and can be associated with other neural and nonneural antibodies. The simultaneous association of several antibodies in some patients suggests multimodal autoantibody production.- - - - - - - - - - ranking = 0.2keywords = neuron (Clic here for more details about this article) |
3/367. Long-chain L-3-hydroxyacyl-coenzyme a dehydrogenase deficiency neuropathy: response to cod liver oil.Docosahexaenoic acid (DHA) deficiency has recently been documented in several children with long-chain L-3-hydroxyacyl-coenzyme a dehydrogenase deficiency (LCHADD). We studied a 13-year-old boy with LCHADD who had limb girdle myopathy, recurrent myoglobinuria, and progressive sensorimotor axonopathy with demyelination. At 11 years of age, he was started on cod liver oil extract, high in DHA content. Over 12 months, he demonstrated a marked clinical recovery. Nerve conduction studies (NCS) demonstrated reappearance of previously absent posterior tibial and peroneal nerve responses and the amplitudes on motor ulnar and median NCS markedly increased from 7- to 14-fold, respectively.- - - - - - - - - - ranking = 0.20414700032127keywords = motor (Clic here for more details about this article) |
4/367. 3-Methylglutaconic aciduria type I: clinical heterogeneity as a neurometabolic disease.3-Methylglutaconic (3-MGC) aciduria with 3-methylglutaconyl-CoA hydratase deficiency (3-MGC aciduria type I) is a rare inherited metabolic disease of L-leucine catabolism. We describe a 9-month-old Japanese boy with this disorder who showed progressive neurological impairments presented as quadriplegia, athetoid movements and severe psychomotor retardation from 4 months of age. This finding indicates the existence of clinical heterogeneity in 3-MGC aciduria type I, suggesting it may present as a neurometabolic disease.- - - - - - - - - - ranking = 0.10207350016063keywords = motor (Clic here for more details about this article) |
5/367. Acute inflammatory neuropathy in charcot-marie-tooth disease.The authors report an association between acute inflammatory neuropathy and previously undiagnosed Charcot-Marie-Tooth 1A disease in a 15-year-old girl. sural nerve biopsy study showed hypertrophic neuropathy with endoneurial infiltrates of macrophages and lymphocytes. This association may be coincidental, but a particular susceptibility to damage of these peripheral nerves cannot be excluded. This report confirms the importance of pes cavus as a sign of long-standing sensorimotor neuropathy.- - - - - - - - - - ranking = 0.10207350016063keywords = motor (Clic here for more details about this article) |
6/367. charcot-marie-tooth disease type I diagnosed in a 5-year-old boy after vincristine neurotoxicity, resulting in maternal diagnosis.charcot-marie-tooth disease type 1, also known as hereditary motor sensory neuropathy type 1, is an uncommon autosomal dominant disease that causes destruction of peripheral nerves with a varied clinical course, but often leads to muscle weakness. If the peroneal muscle is involved, the patient may develop a characteristic slapping gait. The dose-limiting side effect of the chemotherapeutic agent vincristine is usually its neurotoxicity. We report the case of a 5-year-old patient with leukemia who developed an acute polyneuropathy after treatment with vincristine. charcot-marie-tooth disease type 1 was diagnosed in the patient and, subsequently, in his mother only after vincristine toxicity was observed.- - - - - - - - - - ranking = 0.10207350016063keywords = motor (Clic here for more details about this article) |
7/367. Can immunoadsorption plasmapheresis be used as the first choice therapy for neuroimmunological disorders?The subjects were 31 patients in whom immunoadsorption plasmapheresis (IAPP) was performed as the first choice therapy for primary or recurrent neuroimmunological disorders. The clinical manifestations before and after IAPP and the use of corticosteroids were investigated in the present study. IAPP was clinically effective in all patients. The corticosteroids (CSs) administration was begun or CSs were increased after completion of IAPP in 11 patients. IAPP was performed as the first choice therapy, and favorable results were obtained in patients with guillain-barre syndrome and Miller-Fisher syndrome. IAPP alone was also effective in a patient with lupoid sclerosis. When IAPP was used alone in 2 patients with chronic inflammatory demyelinating polyradiculoneuropathy, it completely eliminated the clinical manifestations, but the symptoms recurred about 2 months later. Therefore, although IAPP could be performed as the first choice therapy for many neuroimmunological disorders, subsequent therapies should be carefully investigated.- - - - - - - - - - ranking = 0.31108500034081keywords = sclerosis (Clic here for more details about this article) |
8/367. Halo femoral traction and sliding rods in the treatment of a neurologically compromised congenital scoliosis: technique.In severe congenital scoliosis, traction (whether with a halo or instrumental) is known to expose patients to neurologic complications. However, patients with restrictive lung disease may benefit from halo traction during the course of the surgical treatment. The goal of treatment of such deformities is, therefore, twofold: improvement of the respiratory function and avoidance of any neurologic complications. We report our technique to treat a 17-year-old girl with a multi-operated congenital scoliosis of 145 degrees and cor pulmonale. Pre-operative halo gravity traction improved her vital capacity from 560 c.c. to 700 c.c., but led to mild neurologic symptoms (clonus in the legs). To avoid further neurologic compromise, her first surgery consisted of posterior osteotomies and the implantation of two sliding rods connected to loose dominoes without any attempt at correction. Correction was then achieved over a 3-week period with a halofemoral traction. This allowed the two rods to slide while the neurologic status of the patient was monitored. Her definitive surgery consisted of locking the dominoes and the application of a contralateral rod. Satisfactory outcome was achieved for both correction of the deformity (without neurologic sequels) and improvement of her pulmonary function (1200 c.c. at 2 years). This technique using sliding rods in combination with halofemoral traction can be useful in high-risk, very severe congenital scoliosis.- - - - - - - - - - ranking = 0.014310393274709keywords = lateral (Clic here for more details about this article) |
9/367. Acute renal failure with neurological involvement in adults associated with measles virus isolation.BACKGROUND: Three people with clinical manifestations of acute renal failure with neurological involvement of unknown cause were admitted to a hospital in Mumbai, india. We describe clinical presentations and investigations of the cause. methods: We analysed case reports and laboratory findings for the patients (age 37-43 years, two men, one woman) that were provided by the clinicians in charge. serum and cerebrospinal fluid were tested for viral cause by IgM ELISA to Japanese encephalitis, west nile fever, dengue, and measles. Samples were inoculated in vero-cell culture for virus isolation. The virus isolates were confirmed with indirect immunofluoresence with antimeasles immune sera and mouse monoclonal antibodies to measles HA and F proteins and with neutralisation tests using antimeasles immune sera. FINDINGS: Clinical features were fever, vomiting, oliguria or anuria, bilateral facial weakness, impaired hearing, blindness, proximal and distal areflexic limb paralysis, and respiratory paralysis. No patient had a macropapular rash. blood urea nitrogen (4.64-27.8 mmol/L) and creatinine (601.1-1105.0 micromol/L) were high, and cerebrospinal fluid contained high concentrations of proteins and pleocytosis. kidney biopsy samples in two patients showed severe interstitial nephritis. IgM antibodies to measles were found in blood and cerebrospinal fluid. Vero-cell cultures from serum and cerebrospinal fluid of one patient and cerebrospinal fluid of two patients, showed cytopathic effects characteristic of measles. INTERPRETATION: Unusual manifestations of acute renal failure with neurological involvement associated with measles virus in adults presenting without rash was confirmed. Our findings may affect the development of measles-elimination programmes.- - - - - - - - - - ranking = 0.014310393274709keywords = lateral (Clic here for more details about this article) |
10/367. A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11.Choreoathetosis is a major clinical feature in only a small number of hereditary neurological disorders. We define a new X-linked syndrome with a unique clinical picture characterized by mild mental retardation, choreoathetosis, and abnormal behavior. We mapped the disease in a four-generation pedigree to chromosome Xp11 by linkage analysis and defined a candidate region containing a number of genes possibly involved in neuronal signaling, including a potassium channel gene and a neuronal G protein-coupled receptor.- - - - - - - - - - ranking = 0.4keywords = neuron (Clic here for more details about this article) |
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