Neurodegenerative disease caused by the TRAPPC4 gene

Case presentation: Female, 5 years old, daughter of a non-consanguineous couple, with pregnancy history toxoplasmosis seroconversion but no perinatal complications and negative newborn screening tests. She had adequate neuropsychomotor development up to three months age, when she began experience milestones regression acquired microcephaly, accompanied by hearing loss movement disorders. At first evaluation, poor eye fixation, axial hypotonia appendicular hypertonia, global hyperreflexia, myoclonus generalized dystonias. No dysmorphisms were noted. has undergone extensive diagnostic investigation, metabolic acidosis, hyperlactatemia, plasma amino acid chromatography increased glycine. Toxoplasmosis serology was non-reactive the results ammonia, urinary organic acids mucopolysaccharides, enzyme assays (arylsulfatase A, β-galactosidase palmitoyl-protein thioesterase 1), lymphocytes inclusions research molecular panel for epilepsies all normal. Electroneuromyography normal electroencephalogram showed low-amplitude tracing. Cranial MRI (2018) presented important diffuse reduction brain parenchyma, hypersignal on T2 FLAIR in remaining parenchyma thinning corpus callosum; (2021) progressive worsening cerebral atrophy bilateral subcapsular thalamic region, trunk cerebellum. The diagnosis confirmed exome sequencing homozygous pathogenic variant TRAPPC4 c.454+3A>G;p(?) gene. Our patient improvement abnormal movements after using levetiracetam.