Intractable Epilepsy and Progressive Cognitive Decline in a Young Man

A young man with normal neurodevelopment presented with 3 years of medically refractory, progressive epilepsy and myoclonus. Initial examination included neuroimaging, electroencephalography, and biochemical analyses, all of which were unremarkable except for mildly enlarged ventricles. Over the following year, the patient experienced rapid cognitive decline with new-onset recurrent visual hallucinations and progressive lethargy. Results of subsequent electroencephalography and brain imaging were unchanged, and a fluorodeoxyglucose F 18 positron emission tomographic scan was normal.

[1]  P. Striano,et al.  Progressive myoclonic epilepsies , 2014, Neurology.

[2]  H. Goebel,et al.  Human pathology in NCL. , 2013, Biochimica et biophysica acta.

[3]  S. Grossi,et al.  Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients , 2009, Journal of Neurology.

[4]  R. Vanninen,et al.  Clinical picture of EPM1‐Unverricht‐Lundborg disease , 2008, Epilepsia.

[5]  A. Delgado-Escueta.  Advances in Lafora progressive myoclonus epilepsy , 2007, Current neurology and neuroscience reports.

[6]  N. Delanty,et al.  Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects , 2005, The Lancet Neurology.

[7]  R. Michelucci,et al.  Lafora disease due to EPM2B mutations , 2005, Neurology.

[8]  S. Scherer,et al.  Progressive myoclonus epilepsy with polyglucosans (Lafora disease) , 2004, Neurology.

[9]  S. Scherer,et al.  Skin biopsy in Lafora disease , 2003, Neurology.

[10]  R. Michelucci,et al.  A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2). , 1999, Human molecular genetics.

[11]  E. Shoubridge,et al.  Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study. , 1989, Brain : a journal of neurology.

[12]  Gonzalo R. Lafora,et al.  Beitrag zur Histopathologie der myoklonischen Epilepsie , 1911 .

[13]  O. Onodera,et al.  Unstable expansion of CAG repeat in hereditary dentatorubral–pallidoluysian atrophy (DRPLA) , 1994, Nature Genetics.