Dados do Trabalho

Título

Posterior Cortical Atrophy: Variant of Alzheimer's Disease related to PSEN1 mutation manifesting as rapidly progressive dementia.

RESUMO

Case Presentation: A 44yo right-handed female artisan, with university degree, was brought to emergency care due to a history of approximately 1 year of progressive memory deficit (losing objects, messages and appointments), which rapidly evolved in 6 months to prominent visuospatial impairment preventing her to drive her car, and dyspraxia hindering her to paint or performing manual tasks and to carry on her work, significant global dysphasia, and urinary incontinence, leading to severe functional limitation. In the month before admission, she no longer handled money or was able to cook. On neurological examination, she scored 5 out of 30 points on the MMSE. Insight and social adequacy were preserved. The patient was disoriented in time and space, ideomotor apraxia was observed, as lack of verbal fluency with anomia, and inability to repeat complex sentences. Also, an ocular apraxia was noticed. Tendon reflexes were symmetric and no frontal releasing signs were observed. Gait was normal. Magnetic Resonance Imaging (MRI) of the brain showed diffuse brain reduction, with marked bilateral parietal atrophy. Genetic testing detected a pathogenic variant in the PSEN1 gene. She was treated with donepezil up to 10mg daily. Her deceased mother had a history of early-onset dementia without a confirmed diagnosis.

Discussion: The patient's clinical manifestation, with accelerated evolution and dramatic impairment of functionality, draws attention to a rapidly progressive dementia, whose main causes include prion diseases (Creutzfeldt-Jakob), infectious, inflammatory and neurodegenerative diseases, such as corticobasal degeneration, dementia with Lewy bodies and atypical Alzheimer's disease. The proposed diagnosis was posterior cortical atrophy (PCA), an uncommon type of dementia that is often neglected or subdiagnosed.

Final Comments: Posterior cortical atrophy (PCA) or progressive posterior cortical dysfunction syndrome (PPCD) is a rare but disabling dementia syndrome. This progressive dementia initially presents with visual disturbances and is characterized by visuospatial and visual perceptual impairment, visual agnosia, with a later onset of cognitive decline generally associated with typical Alzheimer's disease. Furthermore, PPCD can sometimes be mistakenly attributed to ophthalmological disorders. Its diagnosis remains challenging, with differential diagnoses including rapidly progressive dementias.

Palavras Chave

Posterior Cortical Atrophy; Variant ; Alzheimer's Disease; PSEN1