Lafora-body disease with optic atrophy, macular degeneration and cardiac failure
Date
1989
Authors
De Graaf A.S.
Ancker E.
Rutherfoord G.S.
Van der Walt J.J.
Rossouw D.J.
Journal Title
Journal ISSN
Volume Title
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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.
Description
Keywords
adolescent, case report, epilepsy, fatality, heart infarction, heart muscle, histology, human, human cell, male, muscle biopsy, myoclonus epilepsy, priority journal, retina macula degeneration, ultrastructure, Adolescent, Biopsy, Brain, Case Report, Epilepsies, Myoclonic, Heart Failure, Congestive, Human, Macular Degeneration, Male, Microscopy, Electron, Muscles, Optic Atrophy
Citation
Journal of the Neurological Sciences
93
1
93
1