Early‐onset Lewy body dementia associated with PRKN gene mutation

Abstract

AbstractBackgroundA 42‐year‐old woman presented with a 1‐year history of head tremors, visual hallucinations, and concentration difficulty. On initial evaluation by a neurologist, she was told that her symptoms were due to anxiety, and no further workup was done. After seeking a second opinion, further workup was pursued.MethodThe patient underwent cognitive testing, with Montreal Cognitive Assessment revealing a normal score of 29/30. MRI Brain revealed a midline frontal meningioma without mass effect. Routine EEG revealed no evidence of seizure tendency. Due to persistent head tremors and visual hallucinations, further testing was considered.ResultPET‐FDG CT Brain revealed bilateral parietotemporal and occipital hypometabolism with preserved cingulate gyrus metabolism, consistent with Lewy body dementia. Another PET‐FDG MRI Brain performed 13 months later revealed a similar hypometabolism pattern. Genetic testing revealed a heterozygous mutation for the PRKN gene.ConclusionIn this case, a patient showing clinical signs of a potential neurodegenerative disorder was initially dismissed as having anxiety, but further workup with appropriate neurological studies revealed a genetic basis for early‐onset Lewy body dementia. This case demonstrates a unique association with the PRKN gene mutation with Lewy body dementia even though it is typically associated with Parkinson’s disease. This case also highlights the underrepresentation of young patients with neurodegenerative diseases, which is reinforced by biases against pursuing appropriate workup for young patients showing relevant clinical signs.