𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Early detection of skin and muscular involvement in lafora disease

✍ Scribed by Sandro Iannaccone; Marco Zucconi; Angelo Quattrini; Raffaello Nemni; Mauro Comola; Luca Taccagni; Salvatore Smirne

Book ID
104718725
Publisher
Springer
Year
1991
Tongue
English
Weight
787 KB
Volume
238
Category
Article
ISSN
0340-5354

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✦ Synopsis

Two siblings with Lafora disease (LD) are described: one with epilepsy, myoclonus, EEG abnormalities, severe dementia and many Lafora bodies (LBs) in muscle and skin tissue; the other with myoclonus, epilepsy, EEG abnormalities and LBs in muscle and in skin tissue, without dementia. The findings suggest that the diagnosis of LD by skin and muscular biopsy is possible in the early stage of the disease, when there are myoclonic epilepsy and EEG abnormalities, before the onset of dementia.

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