Lafora-body disease with optic atrophy, macular degeneration and cardiac failure

Journal of the Neurological Sciences
A S de GraafD J Rossouw

Abstract

A 17-year-old boy was admitted to hospital in acute cardiac failure and psychosis. The clinical course, EEG records and tissue diagnosis, including biopsies of brain, skin, skeletal muscle, peripheral nerve and liver were compatible with Lafora-body disease (LBD). Unusual features were those of optic atrophy and macular degeneration, signs generally regarded as negative criteria for the diagnosis of this disease. We also present the findings on endomyocardial biopsy which was performed because cardiac failure as an early symptom of LBD has not been previously described. The patient died in status epilepticus a few months after discharge from hospital.

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Citations

Mar 4, 1999·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·R G Corkill, R J Hardie
Jun 10, 2010·CNS Drugs·Thomas S Monaghan, Norman Delanty
Feb 17, 2007·Revue neurologique·P Genton
Dec 6, 2005·Forensic Science International : Synergy·Regula Wick, Roger W Byard
Dec 11, 1999·Journal of Child Neurology·F OkselS Tütütüncüoğlu
Jul 30, 2019·Cell Metabolism·M Kathryn BrewerMatthew S Gentry

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