11/551. Delayed focal neurological deficit secondary to a cervico-thoracic spinal cord epidural haematoma.This is a report of an elderly woman who developed focal neurological deficit in association with a cervico-thoracic spinal epidural haematoma. Symptoms developed several days after the initial injury and subsequently resolved without surgical intervention. The unusual features of this presentation are discussed.- - - - - - - - - - ranking = 1keywords = ms (Clic here for more details about this article) |
12/551. liver transplantation for methylmalonic acidaemia.The outcome for children with severe forms of methylmalonic acidaemia remains poor. patients have recurrent episodes of metabolic decompensation; many have neurodevelopmental complications and the mortality is high. Long-term survivors develop chronic renal failure. Because of the poor prognosis, transplantation has been considered. In young patients with early onset disease, liver transplantation might prevent complications and, for those in end-stage renal failure, kidney transplantation could be combined with that of the liver. The results of liver transplantation in the early onset patients have generally been disappointing. In particular there appears to be a high risk of neurological complications. The optimal management of those in end-stage renal failure has not yet been determined although combined liver and kidney transplantation has been successful. CONCLUSION: The role of transplantation in methylmalonic acidaemia has yet to be established and follow up of all patients who are considered for transplantation is essential.- - - - - - - - - - ranking = 1keywords = ms (Clic here for more details about this article) |
13/551. Neuropathies of monoclonal gammopathies of undetermined significance.Although rare, MGUS neuropathies offer a unique glimpse of some the molecular mechanisms of autoimmunity. For this reason alone, they are important disorders and are being studied vigorously in many research centers around the world. In at least some cases, they are potentially treatable. New, safer, and more effective therapies are needed, however. The neurologist and hematologist must work together to develop these treatments.- - - - - - - - - - ranking = 1keywords = ms (Clic here for more details about this article) |
14/551. Can neurologic manifestations of Hughes (antiphospholipid) syndrome be distinguished from multiple sclerosis? Analysis of 27 patients and review of the literature.Hughes (antiphospholipid) syndrome (APS) can mimic multiple sclerosis (MS). We analyzed the clinical, laboratory, and imaging findings of MS-like expression in a cohort of patients with APS in an attempt to identify parameters that might differentiate the 2 entities. We studied 27 patients who were referred to our unit with the diagnosis of probable or definite MS made by a neurologist. All patients were referred to our lupus clinic because of symptoms suggesting an underlying connective tissue disease, uncommon findings for MS on magnetic resonance imaging (MRI), atypical evolution of MS, or antiphospholipid antibody (aPL) positivity. aPL, antinuclear antibody (ANA), anti-dsDNA, and anti-extractable nuclear antigen (ENA) antibodies were measured by standard methods. MRI was performed in every patient and compared with MRI of 25 definite MS patients who did not have aPL. An index severity score was calculated based on the size and number of increased signal intensity areas in MRI. In the past medical history, 8 patients with primary APS and 6 with APS secondary to systemic lupus erythematosus (SLE) had had symptoms related to these conditions. Neurologic symptoms and physical examination of the patients were not different from those common in MS patients. Laboratory findings were not a useful tool to distinguish APS from MS. When MRI from APS patients was compared globally with MRI from MS patients, MS patients had significantly increased severity score in white matter (p < 0.001), cerebellum (p = 0.035), pons (p < 0.015), and when all areas were taken together (p < 0.001). patients with APS had significantly increased scores in the putamen (p < 0.01). No differences were noticed in the degree of atrophy. When taken individually, MRI from APS patients could not be distinguished from MRI from MS patients. Most of the patients with primary APS showed a good response to oral anticoagulant treatment. In patients with secondary APS, the outcome was poorer. Hughes syndrome (APS) and MS can be difficult to distinguish. A careful medical history, a previous history of thrombosis and/or fetal loss, an abnormal localization of the lesions in MRI, and the response to anticoagulant therapy might be helpful in the differential diagnosis. We believe that testing for aPL should become routine in all patients with MS.- - - - - - - - - - ranking = 15373.498676332keywords = multiple sclerosis, sclerosis, ms (Clic here for more details about this article) |
15/551. Focal neurological manifestations following aberrant central venous catheter placement.An infant developed focal tonic clonic movements of both lower limbs while receiving total parenteral nutrition through a left saphenous percutaneous central venous catheter. Radiographic studies using a contrast confirmed that the catheter tip was located in the ascending lumbar vein in close proximity to the epidural space. Withdrawal of the catheter abated all clinical symptoms. This case emphasizes the need to confirm central venous catheter placement and illustrates yet another risk associated with the infusion of parenteral alimentation.- - - - - - - - - - ranking = 1keywords = ms (Clic here for more details about this article) |
16/551. Clinical and pharmacological profile in a clenbuterol epidemic poisoning of contaminated beef meat in italy.Long-acting beta adrenergic agonists, such as clenbuterol accumulate in the liver, but not meat of treated farm animals, and result in epidemic poisonings in consumers. We describe an outbreak of poisoning in 15 people, following the consumption of meat. Clinical symptoms (distal tremors, palpitations, headache, tachipnoea-dyspnoea, and also moderate hyperglycaemia, hypokalemia and leucocytosis) were seen in nine hospitalised patients, starting about 0.5-3 h after poisoning, and disappearing within 3-5 days later. clenbuterol was found in the urine of all the symptomatic patients, at higher levels than pharmacokinetic computing (mean level 28 ng/ml, 36 h after ingestion), based on the levels found in the meat (1140-1480 ng/g edible tissue). Thus, epidemic poisoning can be produced following the consumption of contaminated meat. The need for a better definition of pharmaco- and toxico-kinetics, not only for drugs ingested as parent drug, but also when ingested as residues with animal tissues, is recommended.- - - - - - - - - - ranking = 1keywords = ms (Clic here for more details about this article) |
17/551. Neuro-otologic manifestations of sarcoidosis.sarcoidosis is an idiopathic disease which presents in anatomic areas of concern to otorhinolaryngologists. It can cause dysfunction of both auditory and vestibular systems. In patients known previously to have sarcoidosis, this disease should be seriously considered. In patients presenting with otologic disorders and associated facial nerve paralysis or other neuropathies, uveitis, granulomatous meningitis or diabetes insipidus, sarcoidosis should be suspected. An examination of the eyes as well as a chest X-ray is imperative. Sudden and fluctuating neurosensory hearing loss has been reported. There is a great need for the study of temporal bones from sarcoidosis patients.- - - - - - - - - - ranking = 1keywords = ms (Clic here for more details about this article) |
18/551. Compound heterozygous group A xeroderma pigmentosum patient with a novel mutation and an inherited reciprocal translocation.The severity of neurological abnormalities in Japanese group A xeroderma pigmentosum (XP-A) patients correlates with the sites of non-sense mutation in the XP-A gene. We describe a patient who presented with a more severe photosensitivity and neurological abnormality than those in typical Japanese XP-A patients with a splicing mutation in intron 3. The patient was compound heterozygous for the splicing mutation in intron 3, which resulted in formation of a non-sense codon in exon 4, and a novel non-sense mutation at codon 208 in exon 5, a C to T transition creating a stop codon TAG. Although the combination of these mutations might have been thought to cause only mild neurological signs, the longer truncated XP-A proteins than those of typical XP-A patients may have resulted in severe neurological symptoms. This phenomenon may be explained by a translocation of chromosome (1;10)(q25.3;q22.3) inherited from his father.- - - - - - - - - - ranking = 1keywords = ms (Clic here for more details about this article) |
19/551. biotinidase deficiency--a treatable entity.biotinidase deficiency is a well recognised treatable cause of a wide spectrum of progressive neurological symptoms. Recent reports have stressed the need to screen children with early onset of seizures, encephalopathy, neurodevelopmental delay, skin rash and alopecia. Enzyme estimation remains the conclusive test. We present a patient with biotinidase deficiency suspected on the above clinical grounds and diagnosed on the basis of metabolic acidosis, raised blood lactate, ketonuria and positive dinitrophenylhydrazine (DNPH) test and confirmed on urinary organic acid profile. Supplementation with biotin resulted in marked clinical improvement and normalisation of metabolic parameters. Thus the clinician should be alert to simple clinical pointers which aid in early diagnosis of these disorders.- - - - - - - - - - ranking = 1keywords = ms (Clic here for more details about this article) |
20/551. Neurosarcoidosis diagnosed during pregnancy by thoracoscopic lymph node biopsy. A case report.BACKGROUND: sarcoidosis is a multiorgan-system granulomatous disease causing respiratory complaints in most patients. eye involvement, most commonly granulomatous uveitis, is seen in 5% of black patients with sarcoidosis. Neurosarcoidosis is also rare, affecting 5% of patients with sarcoidosis. Thoracoscopic lymph node biopsy in pregnancy has never before been reported. CASE: An otherwise-healthy, 25-year-old woman, gravida 2, para 1001, presented at 25 weeks' gestation with a painful facial palsy and visual defects. Ophthalmologic examination revealed uveitis, and a chest radiograph revealed asymmetric hilar adenopathy. At 28 weeks' gestation, the patient underwent thoracoscopic lymph node biopsy, which confirmed the diagnosis of sarcoidosis. The symptoms were stabilized with therapeutic corticosteroids, and the patient delivered a healthy neonate at term. CONCLUSION: The diagnosis of sarcoidosis remains one of exclusion and requires a high index of suspicion. Tissue confirmation is often necessary, especially when patients have extrathoracic complaints. For patients without other lesions amenable to biopsy, thoracoscopic lymph node biopsy can be considered despite pregnancy.- - - - - - - - - - ranking = 1keywords = ms (Clic here for more details about this article) |
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