21/34. myoclonus, cerebellar disorder, neuropathy, mitochondrial myopathy, and ACTH deficiency.A 50-year-old Japanese woman with action myoclonus, cerebellar signs, neuropathy with axonal degeneration and onion-bulb formation, muscle atrophy with mitochondrial abnormalities, and isolated ACTH deficiency was reported. Her daughter had myoclonus epilepsy and cerebellar ataxia. Neuropathologic findings included atrophy of the dentate and inferior olivary nuclei, Purkinje's cell loss, and demyelination of the posterior columns and spinocerebellar and pyramidal tracts of the spinal cord, besides severe respirator changes. Lafora's bodies were absent. The present case should be included in the entity "myoclonus epilepsy associated with mitochondrial myopathy."- - - - - - - - - - ranking = 1keywords = atrophy (Clic here for more details about this article) |
22/34. Menzel's hereditary ataxia with slow eye movements and myoclonus. A clinico-pathological study.The patient we describe had cerebellar ataxia, slow eye movements, myoclonus, facial dystonia and signs of spinal cord and peripheral nerve involvement. The patient's mother, brother and sister died from the same disease. Neuropathological examination revealed lesions of olivo-ponto-cerebellar atrophy (OPCA) associated with spinal cord degenerative changes characteristic of Menzel's hereditary ataxia. Although myoclonus was similar to Hunt's dyssynergia cerebellaris myonica, pathological findings did not show significant involvement of the dentate nucleus or superior cerebellar peduncle and physiopathological hypotheses for myoclonus are discussed. Slow eye movement is emphasized in the propositus and we suggest that it could be specific of one type of OPCA. Its pathological significance is discussed, but a primitive and unique involvement of the paramedian pontine reticular formation is unlikely.- - - - - - - - - - ranking = 0.5keywords = atrophy (Clic here for more details about this article) |
23/34. Cerebellar lesion in myoclonic encephalopathy of infants.The syndrome of opsoclonus and polymyoclonus developed in an infant who had acute meningoencephalitis with ataxia. A low-density cerebellar lesion was noted by computed tomography, subsequently resolving with residual cerebellar atrophy. The infant recovered completely, except for a mild intention tremor. This was the first documentation, to our knowledge, of an acute cerebellar lesion in this syndrome.- - - - - - - - - - ranking = 0.5keywords = atrophy (Clic here for more details about this article) |
24/34. Progressive myoclonic ataxia associated with coeliac disease. The myoclonus is of cortical origin, but the pathology is in the cerebellum.We report four patients with a progressive myoclonic ataxic syndrome and associated coeliac disease. The onset of the neurological syndrome followed the gastrointestinal and other manifestations of coeliac disease while on a gluten-free diet, in the absence of overt features of malabsorption or nutritional deficiency. The condition progressed despite strict adherence to diet. The neurological syndrome was dominated by action and stimulus sensitive myoclonus of cortical origin with mild ataxia and infrequent seizures. Plasmapharesis and immunosuppressive treatment were tried in two patients but were not beneficial. Post-mortem examination of the brain in one case showed selective symmetrical atrophy of the cerebellar hemispheres with Purkinje cell loss and Bergmann astrocytosis, and with preservation of the cerebral hemispheres and brainstem. Coeliac disease should be considered in the differential diagnosis of all patients presenting with a progressive myoclonic ataxic syndrome.- - - - - - - - - - ranking = 0.5keywords = atrophy (Clic here for more details about this article) |
25/34. Monozygotic twin patients with congenital ichthyosis, microcephalus, spastic quadriplegia, myoclonus, and EEG abnormalities.A pair of monozygotic twins manifested widespread ichthyosis on the trunk and extremities, mainly on the extensor surface of the lower legs. Both patients had severe developmental retardation, microcephalus, spastic quadriplegia, myoclonus, and hearing impairment. Cranial computed tomography and magnetic resonance imaging revealed diffuse cortical atrophy. electroencephalography documented diffuse slow wave dysrhythmia and marked epileptic discharges, namely bilateral occipital dominant, and low-voltage multifocal spikes which appeared asynchronously as a burst, mainly during sleep. Skin biopsy revealed hyperkeratosis with parakeratosis. Granular cell layer was not thickened and diminished. Papillomatosis was absent. Electron microscopy did not reveal any distinctive abnormalities. sjogren-larsson syndrome and other known ichthyosis syndromes were excluded because of the difference in localization of skin lesions, skin manifestations, lack of papillomatosis, the nature and severity of neurologic symptoms and marked electroencephalographic abnormalities.- - - - - - - - - - ranking = 0.5keywords = atrophy (Clic here for more details about this article) |
26/34. Facial action myoclonus in patients with olivopontocerebellar atrophy.We studied four patients with familial olivopontocerebellar atrophy (OPCA) who had abnormal twitching of the cheeks and perioral muscles induced by facial movements. With the muscles at rest, electromyographic (EMG) recordings of the orbicularis oris and risorius muscles revealed myokymic discharges in the absence of visible movements. With voluntary contraction, the EMG showed synchronous discharges in the orbicularis oris and risorius muscles ipsilaterally associated with visible twitching. The duration of the EMG bursts was 10 to 75 ms with a frequency of 8 to 25 Hz, which suggested that the abnormal twitching was most consistent with a myoclonic disorder. Because it was induced by activation of the facial muscles, this movement disorder represents a form of action myoclonus.- - - - - - - - - - ranking = 9862.627947114keywords = olivopontocerebellar atrophy, olivopontocerebellar, atrophy (Clic here for more details about this article) |
27/34. sleep apnea and palatal myoclonus in a patient with neuro-behcet syndrome.A 50-year-old man with neuro-behcet syndrome showed truncal imbalance, dementia, palatal myoclonus, snoring and rhythmic inspiration synchronized with palatal myoclonus. magnetic resonance imaging showed hypertrophy of the bilateral inferior olivary nuclei with slight pontine atrophy. A polysomnographic recording disclosed sleep apnea during non-REM sleep: 6% central type, 46% mixed type, and 48% obstructive type. We speculate that lesions of the respiratory center or related structures in the brainstem resulted in sleep apnea and that laryngeal myoclonus also affected the apnea.- - - - - - - - - - ranking = 0.5keywords = atrophy (Clic here for more details about this article) |
28/34. A familial disorder associated with palatal myoclonus, other brainstem signs, tetraparesis, ataxia and Rosenthal fibre formation.Three siblings presented with a progressive neurological disorder beginning in the third decade of life and characterised by palatal myoclonus, nystagmus, bulbar weakness and spastic tetraparesis. There was no evidence of intellectual deterioration or seizures. CT scan showed marked brainstem atrophy in two patients and basal ganglia calcification in one. MRI scan in one showed high signal in the brainstem and periventricular region and cerebral biopsy in this patient showed myelin loss and the presence of Rosenthal fibres. A similar disease affected the siblings' mother, maternal aunt and two of the aunt's daughters, suggesting an autosomal dominant mode of transmission of what appears to be a unique genetic disorder.- - - - - - - - - - ranking = 0.5keywords = atrophy (Clic here for more details about this article) |
29/34. Fatal infantile encephalopathy with olivopontocerebellar hypoplasia and micrencephaly. Report of three siblings.We report three siblings born with severe neonatal encephalopathy, manifested clinically by microcephaly, myoclonus, and muscular hypertonus. Karyotypic analyses and all biochemical investigations were unrevealing. All three patients died during infancy. Postmortem examination of the brain in one child disclosed severe neuronal loss in the inferior olives and the pontine nuclei. There was also severe hypoplasia of the cerebellum and micrencephaly. There was diffuse gliosis of the white matter in all areas of the brain. We believe this may represent a previously undescribed form of familial infantile encephalopathy with olivopontocerebellar hypoplasia.- - - - - - - - - - ranking = 3019.8166517441keywords = olivopontocerebellar (Clic here for more details about this article) |
30/34. Hashimoto's myoclonic encephalopathy: an underdiagnosed treatable condition?We report two patients with subacute diffuse encephalopathy characterized by confusion, myoclonic encephalopathy, and mild akineto-rigid extrapyramidal signs in one case and by apathy, memory deficit, and partial complex seizures in the other. Hashimoto's thyroiditis with high titers of anti-thyroglobulin antibodies was diagnosed in both patients, who were unresponsive to anticonvulsant medication, but showed rapid neurological improvement following steroid treatment. On neuropsychological examination, predominant frontotemporal dysfunction was noted. Electroencephalographic activity was remarkable for its rhythmical delta activity, unresponsive to, or even paradoxically increased by, anticonvulsant treatment. On magnetic resonance imaging, atrophy with temporal predominance was found. These observations support the idea that this potentially treatable dementia and movement disorder should be classified as a separate clinical entity.- - - - - - - - - - ranking = 0.5keywords = atrophy (Clic here for more details about this article) |
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