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

Cilt: 36 Sayı: 2026 5 Ağustos 2026
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West Syndrome Associated with a CLTC Gene Variant: A Case Report on Auditory Perception and Language Development

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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.

Anahtar Kelimeler

auditory perception, genetic, Infantile spasms, language development, mutation, West syndrome

Kaynakça

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Kaynak Göster

APA
Çağal Karabulut, E., Çağlar, Ö., Yılar, S., Çokyaman, T., Akti, B., Kablan, A., Çelik, K. M., Ozcan, O., & Sılan, F. (2026). West Syndrome Associated with a CLTC Gene Variant: A Case Report on Auditory Perception and Language Development. Genel Tıp Dergisi, 36(2026), 1-5. https://doi.org/10.54005/geneltip.1805086
AMA
1.Çağal Karabulut E, Çağlar Ö, Yılar S, vd. West Syndrome Associated with a CLTC Gene Variant: A Case Report on Auditory Perception and Language Development. Genel Tıp Derg. 2026;36(2026):1-5. doi:10.54005/geneltip.1805086
Chicago
Çağal Karabulut, Esma, Özge Çağlar, Selma Yılar, vd. 2026. “West Syndrome Associated with a CLTC Gene Variant: A Case Report on Auditory Perception and Language Development”. Genel Tıp Dergisi 36 (2026): 1-5. https://doi.org/10.54005/geneltip.1805086.
EndNote
Çağal Karabulut E, Çağlar Ö, Yılar S, Çokyaman T, Akti B, Kablan A, Çelik KM, Ozcan O, Sılan F (01 Ağustos 2026) West Syndrome Associated with a CLTC Gene Variant: A Case Report on Auditory Perception and Language Development. Genel Tıp Dergisi 36 2026 1–5.
IEEE
[1]E. Çağal Karabulut vd., “West Syndrome Associated with a CLTC Gene Variant: A Case Report on Auditory Perception and Language Development”, Genel Tıp Derg, c. 36, sy 2026, ss. 1–5, Ağu. 2026, doi: 10.54005/geneltip.1805086.
ISNAD
Çağal Karabulut, Esma - Çağlar, Özge - Yılar, Selma - Çokyaman, Turgay - Akti, Beyza - Kablan, Ahmet - Çelik, Kübra Müge - Ozcan, Ozge - Sılan, Fatma. “West Syndrome Associated with a CLTC Gene Variant: A Case Report on Auditory Perception and Language Development”. Genel Tıp Dergisi 36/2026 (01 Ağustos 2026): 1-5. https://doi.org/10.54005/geneltip.1805086.
JAMA
1.Çağal Karabulut E, Çağlar Ö, Yılar S, Çokyaman T, Akti B, Kablan A, Çelik KM, Ozcan O, Sılan F. West Syndrome Associated with a CLTC Gene Variant: A Case Report on Auditory Perception and Language Development. Genel Tıp Derg. 2026;36:1–5.
MLA
Çağal Karabulut, Esma, vd. “West Syndrome Associated with a CLTC Gene Variant: A Case Report on Auditory Perception and Language Development”. Genel Tıp Dergisi, c. 36, sy 2026, Ağustos 2026, ss. 1-5, doi:10.54005/geneltip.1805086.
Vancouver
1.Esma Çağal Karabulut, Özge Çağlar, Selma Yılar, Turgay Çokyaman, Beyza Akti, Ahmet Kablan, Kübra Müge Çelik, Ozge Ozcan, Fatma Sılan. West Syndrome Associated with a CLTC Gene Variant: A Case Report on Auditory Perception and Language Development. Genel Tıp Derg. 01 Ağustos 2026;36(2026):1-5. doi:10.54005/geneltip.1805086