Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The combination of opsoclonus, myoclonus, and ataxia in small children suggests the presence of an occult neuroblastoma, and simple laboratory tests rather than sophisticated neuroradiological procedures may point directly to that diagnosis. We described an 18-month-old boy who presented with opsomyoclonus. A small neuroblastoma arising from the left adrenal gland was found by abdominal CT scan and I-131 M. I. B. G. (Metaiodobenzylguanidine) scan. Three and a half years after tumor removal, moderate mental retardation and ataxia persisted without tumor recurrence.
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PMID:[Occult neuroblastoma presenting with opsomyoclonus. A case report]. 193 30

We describe a boy, 3 years and 6 months old, who experienced a rolandic seizure accompanied by a cluster of atypical absence seizures, the EEGs for which corresponded to those of atypical benign partial epilepsy (ABPE). Of note, this patient suffered from developmental delay beginning in infancy and exhibited giant middle-latency somatosensory evoked potentials with action myoclonus. With the exceptions of ethosuximide, acetazolamide, and adrenocorticotropic hormone, which have been reported to be effective in ABPE, the atypical absence seizures were intractable despite extensive treatment with various anticonvulsants. The drugs that were effective led to a remarkable reduction in seizure frequency and EEG improvement, but the efficacy was temporary. The patient demonstrated moderate mental retardation without regression and could not walk with support or speak any meaningful words at the age of 3 years and 6 months. Based on thorough differential diagnosis, although further studies will be necessary, we propose that this boy may present a new phenotype of ABPE: ABPE with action myoclonus.
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PMID:A case of atypical benign partial epilepsy with action myoclonus. 2328 Feb 72