Mystery Case: Lafora periodic acid–Schiff inclusion bodies
نویسندگان
چکیده
منابع مشابه
Mystery Case: Lafora periodic acid-Schiff inclusion bodies.
A 16-year-old boy presented with a 5-year history of progressive cognitive decline and behavioral change followed by generalized tonic-clonic and myoclonic seizures refractory to many anticonvulsants (valproic acid, phenobarbital, clonazepam, and topiramate) and cerebellar ataxia a year later. The son of consanguineous parents, he had a family history of 2 cousins who both had epilepsy and died...
متن کاملMyoclonus epilepsy with cerebellar Lafora bodies. Report of a case.
A case is reported of an 18 year old man with progressive myoclonus epilepsy. Histopathological examination revealed the presence of numerous Lafora bodies in the cerebellar granular layer, without other significant changes in the central nervous system or in other organs.
متن کاملProgressive myoclonus epilepsy without Lafora bodies.
Many attempts have been made to define consistent clinical and pathological entities within the syndrome of progressive myoclonus epilepsy. The existence of a specific metabolic defect underlying one form of the disease is suggested by the presence of characteristic cerebral inclusion bodies (Lafora and Glueck, 1911) and of material with similar staining properties in liver and muscle (Harriman...
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Lafora disease is the most common teenage-onset neurodegenerative disease, the main teenage-onset form of progressive myoclonus epilepsy (PME), and one of the severest epilepsies. Pathologically, a starch-like compound, polyglucosan, accumulates in neuronal cell bodies and overtakes neuronal small processes, mainly dendrites. Polyglucosan formation is catalyzed by glycogen synthase, which is ac...
متن کاملInclusion bodies in trachoma.
THE epithelial-cell inclusion, which is characteristically found in the early stages of trachoma was first described by Halberstaedter and Prowazek (1907). Since that time, a considerable literature concerning the nature of these bodies has accumulated. It is generally conceded that they consist of virus particles together with material elaborated by the virus and/or produced by the parasitized...
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ژورنال
عنوان ژورنال: Neurology
سال: 2015
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0000000000002054