Early Parkinsonism in a Senegalese girl with Lafora disease.
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Early Parkinsonism in a Senegalese girl with Lafora disease.
We report an atypical presentation LaFora disease in a Senegalese girl carrying homozygous variant, c.560A> C, in the gene NHLRC1. At 13 years, patients developed myoclonic seizures and visual, progressive psychomotor slowing, and cognitive decline. At 14 years old, showed severe neurological examination hypomimia, bradykinesia, rigidity and low-amplitude myoclonic jerks. Flash-visual and somatosensory potential arouse shows the amplitude increase of cortical component, while electroretinogram showed attenuated responses.
EEG showed diffuse polyspikes associated with positive-negative jerks and posterior slow waves and spikes irregularly. Figure electroclinical suggest the diagnosis of diseases of the association LaFora visual seizures, cognitive decline, and myoclonus action, together with the EEG and generate potential findings. Two rare findings were superiority extrapyramidal signs in the early stages of the disease (which is rarely reported) and damping responses electroretinal. We assume that LaFora disease diagnosis must be included in the work-up for teens Parkinsonism, when associated with epilepsy.
LaFora disease is a rare, genetic, metabolic disorder is inherited as an autosomal recessive glycogen which is characterized by inclusion bodies, known as LaFora body, in the cytoplasm of cells in the heart, liver, muscles, and skin. LaFora disease presents as a neurodegenerative disorder that causes disruption in the development of cerebral cortical neurons.
We present here the case of illness LaFora presented with progressive myoclonus epilepsy (PME) and investigated at our center. She was diagnosed as having the disease LaFora with typical histologic findings in the skin biopsy and found to be positive for pathogenic mutations in genetic testing.
Early Parkinsonism in a Senegalese girl with Lafora disease.
The 5th International LaFora Epilepsy Workshop: Science elucidating the basis of therapeutic options and prepare for therapy in the clinic.
LaFora disease (LD) is a fatal epilepsy in children and glycogen storage disease caused by recessive mutations in both the progressive myoclonus epilepsy 2A (EPM2A) or gene EPM2B.
The advantages of LD aberrant carbohydrate cytoplasmic aggregates called LaFora body (LBS) which is a driver of the disease. The LaFora Epilepsy 5th International Workshop recently held in Alcala de Henares, Spain. The workshop was attended by nearly 100 doctors, academic and industrial scientists, trainees, National Institutes of Health (NIH) representation, and friends and family members of patients with LD. The workshop covers aspects ranging from defining LD basic scientific mechanism for elucidating the LD or healing therapies and natural history studies recently launched LD.
LaFora disease is a rare, genetic, metabolic disorder is inherited as an autosomal recessive glycogen which is characterized by inclusion bodies, known as LaFora body, in the cytoplasm of cells in the heart, liver, muscles, and skin. LaFora disease presents as a neurodegenerative disorder that causes disruption in the development of cerebral cortical neurons.
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We present here the case of illness LaFora presented with progressive myoclonus epilepsy (PME) and investigated at our center. She was diagnosed as having the disease LaFora with typical histologic findings in the skin biopsy and found to be positive for pathogenic mutations in genetic testing.
