A RARE CASE OF KCTD7 MUTATION

Abstract

Progressive myoclonus epilepsy (PME) is a rare condition caused by numerous genetic diseases. Pathogenic variants in KCTD7 have been reported in association with rare form of infantile neuronal ceroid-lipofuscinosis, autosomal recessive progressive myoclonic epilepsy-3 with or without intracellular inclusions. We report about a 4 years old girl with focal epilepsy, mild intellectual disability, developmental delay, muscle weakness, walking difficulties, dysphagia, nystagmus, episodic ataxia, dystonia, and hypotonia. The first symptoms began at 18 months with focal epileptic seizure. Genetic testing reveals homozygous KCTD7 c.295C>T, p.(Arg99*) mutation.