A Novel Variant of Lafora’s Disease: A Case Report of an Afro-Colombian Adolescent

Progressive myoclonic epilepsies represent a heterogeneous group of neurodegenerative pathologies with a low incidence, one of the most important being Lafora’s disease.

Herein, we describe the case of a 16-year-old female from Quibdó-Colombia, with a history of juvenile myoclonic epilepsy, cognitive deficit, sickle cell trait and poor academic performance, diagnosed at 14 years of age. Seizure semiology: awake, ocular and cephalic version to the right, increased tone and extension of the four extremities followed by clonic phase. Sometimes, associated with a sudden loss of tone. Other events could manifest with a sudden loss of postural tone without altered consciousness or daily presentation of segmental myoclonus. After discontinuation of anticonvulsant medication, she had a deterioration in language, inability to perform basic activities, and increased seizure frequency, over a period of 2 month.

During hospitalization, the patient had myoclonus and encephalopathy, EEG with diffuse encephalopathy and epilepsy of multifocal onset but irritative activity predominated in the left posterior quadrant.

A multigenic panel analysis for epilepsy and ataxia was performed, identifying a homozygous pathogenic variant in the gene EPM2A, localized in chr6:145.686.297 C>G (alternatively c.302-1G>C - ENST00000367519).

CONCLUSION: We report a case of Lafora’s disease in an Afro-Colombian adolescent. The gene panel proved useful in the diagnosis, in addition to sweat gland biopsy which showed Lafora body inclusions. The presence of sickle cell trait is striking in this case, however, no association is found between these two pathologies in the literature. The genetic variant of Lafora’s disease in this patient had not been previously reported.