1/170. 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 = encephalopathies (Clic here for more details about this article) |
2/170. Facial reflex myoclonus induced by language: a neuropsychological and neurophysiological study.We studied a 53 year old right-handed patient who presented isolated myoclonus of right facial muscles induced exclusively by language. Twitching significantly hindered speaking and reading performance. MRI and CT-scan revealed no brain lesion. Conventional EEG showed a few spike-waves predominantly in the left hemisphere. Spike-waves increased during drowsiness. An EEG-EMG polygraphic study was performed during stimulation tests which included linguistic tasks and non-verbal/non-linguistic tests. myoclonus was triggered by speaking and writing but not by non-linguistic tasks. The severity of myoclonus was dependent on the complexity of the language task. back-averaging of right facial EMG bursts failed to show a reliable EEG-EMG correlation. However, the facial reflex myoclonus might have originated from the left rolandicopercular cortex, as it was triggered by complex language activities. Findings in this case are compared with those reported for other forms of reflex seizure and myoclonus.- - - - - - - - - - ranking = 0.0066577615315339keywords = brain (Clic here for more details about this article) |
3/170. Palatal tremor, progressive multiple cranial nerve palsies, and cerebellar ataxia: a case report and review of literature of palatal tremors in neurodegenerative disease.We describe a patient with an unusual clinical presentation of progressive multiple cranial nerve palsies, cerebellar ataxia, and palatal tremor (PT) resulting from an unknown etiology. magnetic resonance imaging showed evidence of hypertrophy of the inferior olivary nuclei, brain stem atrophy, and marked cerebellar atrophy. This combination of progressive multiple cranial nerve palsies, cerebellar ataxia, and PT has never been reported in the literature. We have also reviewed the literature of PT secondary to neurodegenerative causes. In a total of 23 patients, the common causes are sporadic olivopontocerebellar atrophy (OPCA; 22%), Alexander's disease (22%), unknown etiology (43.4%), and occasionally progressive supranuclear palsy (4.3%) and spinocerebellar degeneration (4.3%). Most patients present with progressive cerebellar ataxia and approximately two thirds of them have rhythmic tremors elsewhere. ear clicks are observed in 13% and evidence of hypertrophy of the inferior olivary nucleus in 25% of the patients. The common neurodegenerative causes of PT are OPCA/multiple system atrophy, Alexander's disease, and, in most of them, the result of an unknown cause.- - - - - - - - - - ranking = 0.0066577615315339keywords = brain (Clic here for more details about this article) |
4/170. Palatal myoclonus--a case report.Palatal myoclonus is usually due to a brainstem or cerebellar lesion disrupting the dentato-rubro-olivary pathway. Rarely it may be caused by a cortical lesion. The precipitating factor in 70% of all cases is an infarct. We describe an unusual case of a patient with palatal myoclonus who had an old ipsilateral cerebellar infarct and a new contralateral subcortical (corona radiata) infarct. We postulate that the new infarct caused disinhibition of the old cerebellar infarct, resulting in palatal myoclonus. magnetic resonance imaging (MRI) of the brain did not show any hypertrophy of the inferior olivary nucleus. Her myoclonus proved refractory to clonazepam, valproate and phenytoin.- - - - - - - - - - ranking = 0.013315523063068keywords = brain (Clic here for more details about this article) |
5/170. Segmental facial myoclonus in moebius syndrome.Moebius syndrome is characterized by sixth and seventh nerve palsy and is usually the result of bilateral hypoplasia or aplasia of the respective brain stem nuclei. There have been no reports of involuntary facial movements associated with this malformative complex. We report on a 6-year-old boy affected by Moebius syndrome with asymmetric involvement and segmental facial myoclonus with onset at age 2 years, affecting the side with partially conserved motility. Clinical presentation included congenital peripheral palsy of the right seventh cranial nerve and left-sided rhythmic rising of the upper lip and eyebrow. Surface-electromyography (EMG) of the left levator labii and frontalis muscles showed rhythmic bursting (duration: 150-450 ms; frequency: 1-3 Hz). Electroencephalographic (EEG)-polygraphic recordings and burst-locked EEG averaging failed to show any consistent EEG activity preceding the EMG bursts. Study of the blink reflex, somatosensory and motor-evoked potentials showed findings consistent with pontine pathology. Segmental facial myoclonus, although extremely rare in children, must be differentiated from several other paroxysmal motor manifestations associated with structural lesions involving the brain stem. Segmental facial myoclonus stem-Structural lesion.- - - - - - - - - - ranking = 0.013315523063068keywords = brain (Clic here for more details about this article) |
6/170. Interstitial deletion of 14q, 46, XY, del (14) (q24.3q32.1) associated with status nonepileptic myoclonia and delayed myelination.A Japanese boy with interstitial deletion of the long arm of chromosome 14, including band 14q31, is described. The characteristic dysmorphic facial features, such as dolichocephaly, bushy eyebrows, horizontal narrow palpebral fissures, long philtrum, etc, and mental and motor developmental delay were observed. Other characteristic clinical manifestations were anuresis and status nonepileptic myoclonia The finding of delayed myelination of the cerebral white matter was observed on magnetic resonance examination, suggesting that an unknown factor related to myelination in the central nervous system might be localized in band 14q31.- - - - - - - - - - ranking = 0.0068711208054018keywords = central nervous system, nervous system (Clic here for more details about this article) |
7/170. Hypertrophic olivary degeneration following surgical excision of brainstem cavernous hemangioma: a case report.Hypertrophic olivary degeneration (HOD) is a rare type of neuronal degeneration involving the dento-rubo-olivary pathway. It is distinguished from other types of neuronal degeneration in that hypertrophy, rather than atrophy, takes place in the neurons in the inferior olivary nucleus. Prior to the invention of magnetic resonance imaging (MRI), HOD was difficult to be detected, and a firm diagnosis could only be made at autopsy. We present a case of bilateral HOD following surgical excision of a cavernous hemangioma in the brainstem. The literature and imaging findings of this uncommon condition are reviewed.- - - - - - - - - - ranking = 0.033288807657669keywords = brain (Clic here for more details about this article) |
8/170. syndrome of progressive ataxia and palatal myoclonus: a case report.A 46-year old man presented with progressive cerebellar ataxia for 5 years. physical examination revealed palatal and tongue myoclonus, cerebellar gait, limb ataxia and spasticity of the lower extremities. The imaging studies including CT-scan and MRI of the brain revealed progressive pancerebellar atrophy and bilateral hypertrophic degeneration of inferior olives. The clinical course was slowly progressive. Various medications included anticonvulsants, benzodiazepines and antispasticity failed to abolish the abnormal palatal movement and ataxic syndrome. The syndrome of progressive ataxia and palatal myoclonus is a rare and unique neurodegenerative syndrome. The pathogenesis and treatment are still unknown.- - - - - - - - - - ranking = 0.0066577615315339keywords = brain (Clic here for more details about this article) |
9/170. 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 = 0.0066577615315339keywords = brain (Clic here for more details about this article) |
10/170. Creutzfelt-Jakob disease presenting hyperparathyroidism.We reported a 68-year-old female with Creutzfelt-Jakob disease (CJD) presenting hyperparathyroidism. She was suspected as Creutzfelt-Jakob like syndrome at her initial visit to our hospital because of progressive dementia and high level of serum calcium. Finally she was diagnosed as having CJD by the clinical symptoms including progressive dementia and myoclonus and the characteristic patterns of brain CT and electroencephalogram (EEG). CJD presents a variety of symptoms including progressive dementia, apathy and myoclonus. hyperparathyroidism and toxicity of lithium, delirium and bismuth have been reported to induce similar symptoms of CJD, which are called Creutzfelt-Jakob like syndrome. Therefore, the diagnosis of CJD would be difficult in cases with CJD accompanied with Creutzfelt-Jakob like syndrome. It is rare for otolaryngologists to examine patients with dementia like CJD. However, we have to keep CJD in mind in the diagnosis of hyperparathyroidism.- - - - - - - - - - ranking = 0.0066577615315339keywords = brain (Clic here for more details about this article) |
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