1/78. bismuth encephalopathy.bismuth encephalopathy, characterized by the constant association of acute confusion, myoclonus, severe ataxia and dysarthia has reached "epidemic" proportion since its first description in 1974. The clinical aspects the pathogenic hypothesis, the diagnostic criteria as well as the report of a typical case are described by the authors, who stress the similarities with encephalopathies induced by other metals.- - - - - - - - - - ranking = 1keywords = encephalopathy (Clic here for more details about this article) |
2/78. myoclonus from selective dentate nucleus degeneration in type 3 gaucher disease.OBJECTIVE: To describe a case with a new genetic variant of type 3 gaucher disease presenting with stimulus-sensitive and action myoclonus in the presence of selective dentate abnormalities. DESIGN: Clinical, pathologic, and molecular genetic studies. SETTING: Medical school departments. PATIENT: A 6-year-old girl with type 3 gaucher disease experienced progressively crippling generalized stimulus-sensitive and action myoclonus. Repeated electroencephalographic examination did not show cortical activity associated with the myoclonus, suggesting its subcortical origin. Neuropathological examination revealed selective degeneration of the cerebellar dentate nucleus and dentatorubrothalamic pathway in the face of essentially complete lack of storage in the brain. mutation analysis identified the following 2 mutant alleles: one with a V394L mutation and the other with the lesion RecTL (D409H L444P A456P V460V), which resulted from a recombination event, with the pseudogene located 16 kilobases downstream from the structural gene. CONCLUSION: Given the restricted abnormalities, this genetically unique case provides insight into the pathogenesis of myoclonus and suggests a prominent role for the cerebellar dentate nucleus in its genesis.- - - - - - - - - - ranking = 0.00073612646933965keywords = variant (Clic here for more details about this article) |
3/78. Carotid brainstem reflex myoclonus after hypoxic brain damage.A patient comatose after acute anoxia developed bilaterally synchronous, periodic myoclonic jerks most prominently in the bilateral upper limbs. Although the myoclonus seemed to occur spontaneously, electrophysiological studies showed that the myoclonic jerks correlated in timing and size with arterial pulses, and was suppressed by massage over the carotid sinus. It is proposed that the present myoclonus is a variant of brainstem reflex myoclonus in which arterial pulses served as intrinsic trigger stimuli via the carotid sinus and the medullary reticular formation.- - - - - - - - - - ranking = 0.00073612646933965keywords = variant (Clic here for more details about this article) |
4/78. tremor and myoclonus heralding Hashimoto's encephalopathy.We report the clinical laboratory, electroencephalography (EEG), magnetic resonance imaging (MRI) and single photon emission computerized tomography (SPECT) findings in a 15 year-old euthyroid girl with autoimmune thyroiditis and encephalopathy. She had stupor, coma and generalized tonic clonic seizure preceded by tremor and myoclonus with a previous misdiagnosis of epilepsy and encephalitis. Response to steroid after the 3rd relapse was excellent. Another four children in the literature are also discussed.- - - - - - - - - - ranking = 1keywords = encephalopathy (Clic here for more details about this article) |
5/78. Ectopic white matter neurons, a developmental abnormality that may be caused by the PSEN1 S169L mutation in a case of familial AD with myoclonus and seizures.We report clinical, neuropathologic and molecular genetic data from an individual affected by a familial alzheimer disease (AD) variant. The proband had an onset of dementia at age 29 followed by generalized seizures a year later. He died at age 40. Neuropathologically, he had severe brain atrophy and characteristic histopathologic lesions of AD. Three additional neuropathologic features need to be emphasized: 1) severe deposition of Abeta in the form of diffuse deposits in the cerebral and cerebellar cortices, 2) numerous Abeta deposits in the subcortical white matter and in the centrum semiovale, and 3) numerous ectopic neurons, often containing tau-immunopositive neurofibrillary tangles, in the white maner of the frontal and temporal lobes. A molecular genetic analysis of dna extracted from brain tissue of the proband revealed a S169L mutation in the Presenilin 1 (PSEN1) gene. The importance of this case lies in the presence of ectopic neurons in the white matter, early-onset seizures, and a PSEN1 mutation. We hypothesize that the PSEN1 mutation may have a causal relationship with an abnormality in neuronal development.- - - - - - - - - - ranking = 0.00073612646933965keywords = variant (Clic here for more details about this article) |
6/78. Creutzfeldt-Jakob disease : report of 10 cases from North india.Creutzfeldt-Jakob disease (CJD) is increasingly being reported over the last three decades as a result of heightened awareness of the disease. Various studies have reported annual incidence of 0.5-1.5 cases of CJD per million of general population. In india, the disease is still under reported. Over the period spanning from 1968-1997, National Institute of mental health and neurosciences (NIMHANS), Bangalore recorded 69 cases of CJD from different parts of india in the CJD registry. This paper describes the clinical experience with cases of CJD managed at the Department of neurology, G.B. Pant Hospital, New Delhi from 1990-1998. In this series, the mean age of the patients was 53.80 ( /- 7.32) years and there were 5 females and 5 males. myoclonus was present in all the cases and abnormal behaviour with or without other features was the presenting complaint in 7 of the 10 patients, while one patient of CJD had cerebellar ataxia as the presenting feature. One patient with occipital variant of CJD presented with acute onset cortical blindness and myoclonic jerks. One of the patients had acute psychosis precipitated by emotional stress at the onset. Extrapyramidal features were noted in 7 of the 10 patients before death. The mean duration of symptoms from the onset of disease to death was 6.6 ( /- 6.11) months. Classical EEG changes were observed in all the patients, except in one possible case of occipital variant of CJD, where we did not have access to EEG record. brain biopsy could be undertaken in 3 patients, and in 2 patients the features of subacute spongiform encephalopathy (SSE) were noted.- - - - - - - - - - ranking = 0.39265549747312keywords = encephalopathy, spongiform, variant (Clic here for more details about this article) |
7/78. Progressive myoclonic ataxia and jc virus encephalitis in an AIDS patient.A case of progressive myoclonic ataxia in an AIDS patient is described, which evolved over a 13 month period. The ataxia persisted as the only clinical finding for several months before the appearance of a severe tetraparesis and cachexia. Throughout the clinical progression, magnetic resonance imaging (MRI) revealed the presence of bilateral, progressive, isolated, and symmetrical lesions involving the red nuclei, subthalami, thalami, lenticular nuclei, and primary motor cortices. Neuropathological examination, supplemented by in situ hybridisation for jc virus dna, confirmed that the lesions were those of progressive multifocal leucoencephalopathy (PML). The exceptional clinical presentation of PML in this case is the first report of progressive myoclonic ataxia caused by PML. The selective nature of the lesions confirms the role of the dentato-rubral-thalamo-cortical tract in the pathogenesis of progressive myoclonic ataxia. The atypical MRI findings further emphasise the need for expanded diagnostic criteria for PML in AIDS patients and support the use of more aggressive diagnostic methods as new treatments become available.- - - - - - - - - - ranking = 0.2keywords = encephalopathy (Clic here for more details about this article) |
8/78. ifosfamide encephalopathy presenting with asterixis.CNS toxic effects of the antineoplastic agent ifosfamide (IFX) are frequent and include a variety of neurological symptoms that can limit drug use. We report a case of a 51-year-old man who developed severe, disabling negative myoclonus of the upper and lower extremities after the infusion of ifosfamide for plasmacytoma. He was awake, revealed no changes of mental status and at rest there were no further motor symptoms. Cranial magnetic resonance imaging and extensive laboratory studies failed to reveal structural lesions of the brain and metabolic abnormalities. An electroencephalogram showed continuous, generalized irregular slowing with admixed periodic triphasic waves indicating symptomatic encephalopathy. The administration of ifosfamide was discontinued and within 12 h the asterixis resolved completely. In the patient described, the presence of asterixis during infusion of ifosfamide, normal laboratory findings and imaging studies and the resolution of symptoms following the discontinuation of the drug suggest that negative myoclonus is associated with the use of IFX.- - - - - - - - - - ranking = 1keywords = encephalopathy (Clic here for more details about this article) |
9/78. Atypical myoclonus body epilepsy (adult variant).A young woman, with negative family history, committed suicide after 6 years of myoclonus and mental deterioration. The neurons contained atypical myoclonus bodies which differed from the classical type in distribution, histochemistry and light and electron microscopic appearance.- - - - - - - - - - ranking = 0.0029445058773586keywords = variant (Clic here for more details about this article) |
10/78. Steroid-dependent form of Kinsbourne syndrome: successful treatment with trazodone.We report the case of a 19 month old girl with myoclonic encephalopathy of infants (MEI) (Kinsbourne syndrome), on long-term therapy with ACTH for the occurrence of frequent relapses (steroid-dependent form). The administration of trazodone per os at low doses as an alternative to the previous treatment ensured complete remission, also on the occasion of a subsequent relapse. No rebound effects were observed after trazodone withdrawal (10 months). At present, 3 years after withdrawal of the therapy, the child is well and free from symptoms. The hypothesis that trazodone may be effective in treating MEI, at least in cases that are steroid-dependent or resistant to ACTH, appears highly interesting. trazodone is proposed as a possible alternative to treatment with ACTH.- - - - - - - - - - ranking = 0.2keywords = encephalopathy (Clic here for more details about this article) |
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