1/13. Successful treatment of normeperidine neurotoxicity by hemodialysis.Normeperidine, a major metabolite of meperidine, is half as potent as meperidine as an analgesic but two to three times more potent as a convulsant. Renal failure significantly increases the plasma half-life of normeperidine. The intensity of the central nervous system excitation is highly correlated with the plasma concentration of normeperidine. Moreover, normeperidine toxicity is not reversed by naloxone, which may exacerbate it. We report a patient with end-stage renal disease undergoing maintenance continuous cycler peritoneal dialysis who had been receiving meperidine for pain control. The patient subsequently developed myoclonic contractions and a grand mal seizure. The patient was successfully treated with hemodialysis (using an F8 dialyzer) for presumed normeperidine-induced seizure. During hemodialysis, normeperidine average blood clearance was 73 mL/min, average plasma clearance was 50 mL/min, and average percentage of plasma extraction was 24%. There also was a 26% reduction in plasma concentration of normeperidine over 3 hours of hemodialysis. In conclusion, our findings suggest that hemodialysis may be used effectively for treating patients with suspected normeperidine-induced neurotoxicity.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
2/13. A neurodegenerative disorder with early myoclonic encephalopathy, retinal pigmentary degeneration and nephronophthisis.A female case of developmental arrest, early-onset seizures, retinal pigmentary degeneration, progressive central nervous symptoms and peripheral neuropathy, associated with progressive renal dysfunction, anemia and nephrotic syndrome, was presented. Her epileptic syndrome was possibly an early myoclonic encephalopathy, though neonatal seizures were not evident. Serial cranial MRIs showed progressive brain atrophy and a white matter change. Neuropathological examination revealed a neurodegenerative disease mainly involving the white matter with olivopontocerebellar degeneration. She also had the nephronophthisis-medullary cystic disease complex and an early stage of focal segmental glomerulosclerosis. Her grandaunts had renal diseases, one of whom died of renal failure in adolescence, and her father showed cerebellar symptoms since the middle age. All possible metabolic studies were negative. This case is similar to Senior-Loken syndrome, but distinct in terms of the severe and progressive neurological symptoms, suggestive of a new malignant syndrome with some inherent metabolic derangement affecting both the nervous system and the kidneys.- - - - - - - - - - ranking = 0.34900396301189keywords = nervous system (Clic here for more details about this article) |
3/13. Immunohistochemical demonstration of spinal ventral horn cells involvement in a case of "myoclonus epilepsy with ragged red fibers" (MERRF).OBJECTIVE: To detect mitochondrial lesions in the spinal cord from an autoptic case of myoclonus epilepsy with ragged-red fibers (MERRF) that harbored the A8344G mutation and was deemed to be free of pathological abnormalities in the spinal cord after conventional post-mortem examination. MATERIALS AND methods: antibodies against subunits of complex III and IV of the respiratory chain were used to perform immunohistochemical analysis on cervical, thoracic and lumbar sections of the spinal cord from the case of MERRF and from controls. Immunostaining was carried out by the avidin-biotin peroxidase complex (ABC) method. RESULTS: A selective decreased expression of subunit II of cytochrome c oxidase (COX-II) was found in all spinal cord sections from the patient. CONCLUSIONS: The immunohistochemical demonstration of mitochondrial lesions in the spinal ventral horn cells from this case with MERRF seems to be consistent with the results of many genetic studies pointing to a high and homogeneous distribution of mutant mtDNA in different neuronal populations of patients with this disease. The use of these immunological probes in the study of mitochondrial encephalomyopathies can increase both the resolution and the specificity of morphological observations in the central nervous system (CNS).- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
4/13. Systemic lupus erythematosus and myoclonic epileptic manifestations.Systemic lupus erythematosus (SLE) frequently involves the central nervous system (CNS) and, in fact, epileptic manifestations may be one of the earliest symptoms of SLE. These early occurrences of epilepsy, however, can easily be misdiagnosed as indication of pure epileptic syndrome when the SLE diagnosis is still largely incomplete. We present a young girl who developed myoclonic photosensitive seizures at the onset of the illness, erroneously diagnosed as manifestation of a "pure" epileptic syndrome. Shortly after the onset of an anticonvulsant therapy (lamotrigine), there was a remarkable impairment of the general clinical condition: at that time a diagnosis of SLE was made and a specific treatment began. However, the seizures persisted and evolved toward status epilepticus which needed pentobarbitone therapy in an intensive care unit (ICU). After recovery, the girl gradually got better and during the 23 months of follow-up she received only corticosteroid therapy and did not experience seizures nor SLE relapses.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
5/13. Eyelid myoclonia with absences in three subjects with mental retardation.Eyelid myoclonia with absences is a rare epileptic syndrome, characterized by eyelid myoclonia, absences, and photosensitivity. On the basis of its clinical and EEG features, this syndrome has been classified as a specific new entity among the idiopathic generalized epilepsies. We report three subjects, aged 4, 16, and 31 years, respectively, with eyelid myoclonia, and absences, mental retardation and other abnormalities of the central nervous system. Our findings suggest that, at least in some cases, eyelid myoclonia and absences can represent a peculiar phenomenon of symptomatic epilepsies.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
6/13. Benign adult familial myoclonic epilepsy (BAFME) with night blindness.This is the first report of benign adult familial myoclonic epilepsy (BAFME) with night blindness. Our cases of BAFME (mother, son, and daughter) demonstrated night blindness with a reduced b-wave response on electroretinography (ERG) suggesting an alteration in calcium-mediated neurotransmitter release from photoreceptors in response to light. Several familial epilepsies have been shown to be due to a channelopathy. On the other hand, the mutation of a calcium-channel gene in Xp11.23 was recently reported in incomplete X-linked congenital stationary night blindness (CSNB). Although the gene locus of BAFME was recently assigned to 8q23.3-q24.1, the causative gene has yet to be identified. The present familial case suggests that BAFME may also be a disease of the calcium channel that is present in the retina and the central nervous system (CNS).- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
7/13. Spinal muscular atrophy with progressive myoclonic epilepsy: report of new cases and review of the literature.Spinal muscular atrophy (SMA) is a clinically and genetically heterogeneous disease characterised by loss of motor function and muscle atrophy due to anterior horn cell degeneration. The most common variant is chromosome 5-linked proximal SMA, ranging in severity from congenital onset and infantile death to onset in adult life. Genetically separate variants with different distribution of weakness and/or additional features such as central nervous system involvement have been described. A rare variant with associated myoclonic epilepsy and lower motor neuron disease had been previously described in three families before the SMN gene, responsible for the common form of SMA, was isolated. We report four patients from two additional families affected by a syndrome characterised by severe and progressive myoclonic epilepsy and proximal weakness, tremor and lower motor neuron disease proven by electrophysiologic and muscle biopsy findings. Extensive metabolic investigations were normal and genetic analysis excluded the SMN gene. This study confirms that the association of myoclonic epilepsy and motor neuron disease represents a separate clinical and genetic entity from chromosome 5-linked SMA, the primary defect of which remains unknown.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
8/13. nitrazepam-induced cricopharyngeal dysphagia, abnormal esophageal peristalsis and associated bronchospasm: probable cause of nitrazepam-related sudden death.nitrazepam was used in the treatment of resistant myoclonic epilepsy in 38 children. After the occurrence of nitrazepam-associated swallowing incoordination, high-peaked esophageal peristalsis and related bronchospasm in one patient, we initiated a prospective study of esophageal manometry using a station pull-through technique with a pediatric 4-channel continuous perfusing system. Three more patients were found to have delayed cricopharyngeal relaxation and high-peaked esophageal peristaltic waves. The initial patient developed severe respiratory distress and bronchospasm necessitating ventilatory support while on nitrazepam and improved dramatically with subsequent normal manometric study following nitrazepam discontinuation. nitrazepam was reintroduced for its anticonvulsant and cognitive benefits and was tolerated at a reduced dosage. We postulate a central nervous system effect of nitrazepam promoting parasympathetic overactivity or vagotonia which can cause potentially fatal respiratory distress. Care must be exercised in nitrazepam use and esophageal manometry may be helpful in defining patients at greater risk for sudden death.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
9/13. Tissue segregation of a heteroplasmic mtDNA mutation in MERRF (myoclonic epilepsy with ragged red fibers) encephalomyopathy.The distribution of the causal 8344A-->G mtDNA mutation has been examined in six tissues of a patient with myoclonic epilepsy with ragged red fibers (MERRF), to study the developmental genetics of this type of mitochondrial disorder, and to determine the pathophysiological importance of the mtDNA heteroplasmy generally observed in such patients. Heteroplasmy of the mtDNA was observed in all six tissues (cerebellum, cerebrum, pancreas, liver, muscle, and heart) suggesting that, whereas the mtDNA mutation is relatively new, the mutated population must have existed before the formation of the three primary embryonic layers. The tissue distribution reveals significant variations in the ratio between the mutated and the normal mtDNA species, indicating the randomness of mtDNA segregation during developmental cell division and differentiation events. The result suggests the existence of tissue-specific nuclear factor(s) that determines the expression of the 8344A-->G mutation in various tissues; in MERRF syndrome, expression is mainly in the central nervous system.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
10/13. Neuropathology of myoclonus epilepsy associated with ragged-red fibers (Fukuhara's disease).The post-mortem findings are reported of two patients with myoclonus epilepsy associated with ragged-red fibers (MERRF, Fukuhara's disease), whose clinical findings have been described in detail previously. In addition to the mitochondrial myopathy, both patients had consistent lesions in the central and peripheral nervous systems: (1) degeneration of the dentatorubral and pallidoluysian systems, (2) spinal cord lesions resembling Friedreich's ataxia, and (3) degeneration of the substantia nigra, cerebellar cortex, inferior olivary nucleus, locus ceruleus, gracile and cuneate nuclei, and the pontine tegmentum. The nature and distribution of the lesions are different not only from the other mitochondrial encephalomyopathies but also from other known diseases. It is concluded that MERRF is a disease entity.- - - - - - - - - - ranking = 0.34900396301189keywords = nervous system (Clic here for more details about this article) |
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