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.
Mohit Sahni (Tue,) studied this question.