Unique Neurodevelopmental Profile—Severe Expressive Language Deficits with Intact Social Skills: A Potential Case of Bachmann–Bupp Syndrome

This report details a pediatric patient who initially exhibited behaviors resembling autism spectrum disorder (ASD) during early childhood.However, as the child matured, the clinical picture shifted toward a specific neurodevelopmental phenotype.The primary challenges now include profound expressive language impairment, difficulties with speech articulation, and short-term memory deficits.Notably, the patient maintains strong social reciprocity and emotional engagement, which is atypical for classic ASD.While neurophysiological tests [electroencephalography (EEG) and brainstem evoked response audiometry (BERA)] returned normal results, neuroimaging provided further data for review.The unique combination of symptoms suggests a rare genetic condition, specifically Bachmann-Bupp syndrome.