Summary
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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Bernsen RAJAM, Busard HLSM, Ter Laak HJ, Gabreëls FJM, Renier WO, Joosten EMG, Theeuwes AGM (1989) Polyglucosan bodies in intramuscular motor nerves. Acta Neuropathol (Berl) 77:629–633
Busard HLSM, Renier WO, Gabreëls FJM, Jaspar HHJ, Haelst UJG van, Slooff JL (1986) Lafora's disease. Comparison of inclusion bodies in skin and in brain. Arch Neurol 43:296–299
Busard HLSM, Gabreëls-Festen AAWM, Renier WO, Gabreëls FJM, Stadhoulders AM (1987) Axilla skin biopsy: a reliable test for the diagnosis of Lafora's disease. Ann Neurol 21:599–601
Carpenter S, Karpati G (1981) Sweat gland duct cells in Lafora's disease: diagnosis by skin biopsy. Neurology 31:1564–1568
Carpenter S, Karpati G, Andermann F, Jacob JC, Andermann E (1974) Lafora's disease: peroxisomal storage in skeletal muscle. Neurology 24:531–538
Coleman DL, Gambetti P, Di Mauro S, Blume RE (1974) Muscle in Lafora disease. Arch Neurol 31:396–406
Declerck A (1968) Diagnostic et traitment de l'épilepsie myoclonique progressive type Unverricht-Lundborg. Acta Neurol Psychiatr Belg 68:471–482
Dubowitz V, Brooke MH (1973) Muscle biopsy. A modern approach. Saunders, London, pp 20–33
Genton P, Borg M, Villiano P, Pellissier JF, Roger J (1989) Semilate onset and rapidly progressive case of Lafora's disease with predominant cognitive symptoms. Eur Neurol 29:333–338
Kobayashi K, Iyoda K, Ohtsuka Y, Ohtahara S, Yamada M (1990) Longitudinal clinicoelectrophysiologic study of a case of Lafora disease proven by skin biopsy. Epilepsia 31:194–201
Kraus-Ruppert R, Ostertag B, Häfner H (1970) A study of the late form (type Lundborg) of progressive myoclonic epilepsy. J Neurol Sci 11:1–15
Nishimura RN, Ishak KG, Reddick R, Porter R, James S, Barranger AJ (1980) Lafora disease; diagnosis by liver biopsy. Ann Neurol 8:409–415
Roger S (1985) Progressive myoclonic epilepsy in childhood and adolescence. In: Roger S, Dravet C, Bureau M, Dreifuss FE, Wolf P (eds) Epileptic syndromes in infancy, childhood and adolescence. Libbey Eurotext, London Paris, pp 302–310
Roger S, Pellisier JF, Bureau M, Dravet C, Revol M, Tinuper P (1983) Le diagnostic précoce de la maladie de Lafora. Rev Neurol (Paris) 139:115–124
Tassinari CA, Bureau M, Dalla Bernardina B, Picornell-Darder I, Mouren MC, Dravet C, Roger S (1978) La maladie de Lafora. Rev EEG Neurophysiol 8:107–122
Tinuper P, Aguglia U, Pellissier JF, Gastaut H (1983) Visual ictal phenomena in a case of Lafora disease proven by skin biopsy. Epilepsia 24:214–218
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Iannaccone, S., Zucconi, M., Quattrini, A. et al. Early detection of skin and muscular involvement in lafora disease. J Neurol 238, 217–220 (1991). https://doi.org/10.1007/BF00314784
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DOI: https://doi.org/10.1007/BF00314784