West Syndrome Associated with a CLTC Gene Variant: A Case Report on Auditory Perception and Language Development

Aim: To present a rare case of West syndrome (WS) carrying a heterozygous pathogenic CLTC variant and to evaluate the possible relationship between this genetic finding and the patient’s neurodevelopmental, auditory, and language profile.Materials and Methods: The patient, a 5-year-and-1-month-old child, was referred to our clinic for a hearing evaluation and underwent a comprehensive assessment. Brain development was examined using magnetic resonance imaging (MRI). Hearing was evaluated through acoustic immittance audiometry (including tympanometry and acoustic reflex measurements), transient otoacoustic emissions (TEOAE), and auditory brainstem response (ABR) testing. Receptive and expressive language abilities were assessed with the Test of Early Language Development–Third Edition (TELD-3), and auditory perception skills were evaluated using the Children’s Auditory Perception Test (CIAT). The Denver II Developmental Screening Test was also administered to assess the child’s overall developmental status.Results: The patient was diagnosed with West syndrome (WS) at the age of one year. Clinical findings included cerebellar atrophy, muscle weakness in both upper and lower extremities, epilepsy, facial anomalies, visual impairment, neurodevelopmental delay, and stereotypic movements. Genetic testing identified a heterozygous pathogenic CLTC variant (c.2669C>T, p.P890L), which is considered the primary variant associated with the patient’s clinical presentation. Additionally, three variants of uncertain significance (VUS) were detected, which may have contributed to the neurodevelopmental phenotype. Audiological evaluation revealed normal bilateral hearing; however, auditory perception as well as receptive and expressive language development were significantly delayed. The patient was referred for rehabilitation to support auditory and language acquisition.Conclusions: In this case, delayed auditory perception as well as speech and language development were evident despite normal hearing levels. In summary, detailed evaluation of auditory perception, speech, and language skills, alongside hearing thresholds, should be emphasized in patients with WS.