To describe an atypical presentation of pure word deafness in a patient with epileptic encephalopathy associated with a SCAF4 variant.

Pure word deafness is a rare auditory agnosia characterized by impaired comprehension of spoken language despite preserved hearing, reading, and speech. While most cases result from bilateral superior temporal lobe lesions, it may also occur in epileptic encephalopathies, though genetic causes are rarely identified. SCAF4 variants have recently been associated with developmental delay, epilepsy, and multisystem disorders.

We describe a 43-year-old man with a history of premature birth, neonatal hydrocephalus, and mild childhood speech delay who developed abrupt-onset aphasia with pure word deafness at age 19. He was initially misdiagnosed with primary progressive aphasia due to rapid early decline. Seizure onset occurred at age 27, characterized by focal motor seizures progressing to generalized convulsions. Serial neuroimaging, EEG, and neuropsychological evaluations were performed, and whole-exome sequencing was obtained.

MRI demonstrated left temporal and hippocampal atrophy that remained stable over a decade, supported by unchanged FDG-PET findings. EEG revealed intermittent left frontotemporal IEDs, without continuous spike-and-wave activity during sleep or centrotemporal spikes typical of Landau-Kleffner or CECTS syndrome. Neuropsychological testing confirmed selective auditory-verbal comprehension deficits with preserved speech production, reading, and writing. Genetic testing identified a heterozygous SCAF4 c.2020C>G (p.Pro674Ala) variant. The absence childhood epileptic-aphasia EEG features, adult onset of symptoms, and long-term clinical and imaging stability support classification as a static epileptic encephalopathy with aphasia syndrome, phenotypically consistent with SCAF4 mutation rather than a neurodegenerative or Landau-Kleffner–type process.

This case represents the first report of persistent pure word deafness in epileptic encephalopathy associated with a SCAF4 variant. It highlights the diagnostic challenge of distinguishing static aphasia syndromes from neurodegenerative aphasia such as PPA and underscores the role of genetic testing in atypical epilepsy-related language disorders.