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Early Parkinsonism in a Senegalese girl with Lafora disease
Author(s) -
Ragona Francesca,
Canafoglia Laura,
Castellotti Barbara,
Solazzi Roberta,
Gabbiadini Sara,
Freri Elena,
Scaioli Vidmer,
DiFrancesco Jacopo Cosimo,
Gellera Cinzia,
Granata Tiziana
Publication year - 2020
Publication title -
epileptic disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.673
H-Index - 53
eISSN - 1950-6945
pISSN - 1294-9361
DOI - 10.1684/epd.2020.1150
Subject(s) - myoclonic jerk , myoclonus , parkinsonism , electroencephalography , audiology , myoclonic epilepsy , psychology , lafora disease , somatosensory evoked potential , medicine , dystonia , epilepsy , neuroscience , pediatrics , disease , pathology , biochemistry , phosphorylation , phosphatase , chemistry
We report the atypical presentation of Lafora disease in a Senegalese girl carrying the homozygous variant, c.560A>C, in the NHLRC1 gene. At 13 years, the patient developed myoclonic and visual seizures, progressive psychomotor slowing, and cognitive decline. At 14 years, a neurological examination showed severe hypomimia, bradykinesia, rigidity and low‐amplitude myoclonic jerks. Flash‐visual and somatosensory evoked potentials showed an increased amplitude of the cortical components, while an electroretinogram showed attenuated responses. An EEG showed diffuse polyspikes associated with positive‐negative jerks as well as posterior slow waves and irregular spikes. The electroclinical picture suggested the diagnosis of Lafora disease regarding the association of visual seizures, cognitive deterioration, and action myoclonus, together with the EEG and evoked potential findings. Two uncommon findings were the prominence of extrapyramidal signs in the early stage of disease (which are rarely reported) and attenuation of electroretinal responses. We consider that Lafora disease should be included in the diagnostic work‐up for juvenile Parkinsonism, when associated with epilepsy.