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Alagille Syndrome: A Case Report
Prem G Nair1, Karukayil Sivadas Gayathri2
1Department of Speech Pathology and Audiology, Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham, Kochi, India.
Summary
Alagille Syndrome (ALGS), a genetic disorder affecting multiple organs, can also cause hearing loss. This case study highlights the audiological aspects of ALGS in a child, emphasizing the need for expert evaluation.
Area of Science:
- Genetics
- Otolaryngology
- Pediatrics
Background:
- Alagille Syndrome (ALGS) is a rare, autosomal dominant genetic disorder.
- It affects multiple organs including the liver, eyes, heart, and skeleton, with characteristic facial features.
- Hearing loss has been reported in ALGS patients, suggesting potential involvement of both middle and inner ear structures.
Purpose of the Study:
- To emphasize the audiological perspectives of Alagille Syndrome.
- To present a case study of a nine-year-old female child with ALGS and hearing loss.
- To raise awareness among audiologists regarding ALGS features and audiological evaluation.
Main Methods:
- Case study of a nine-year-old female child with Alagille Syndrome.
- Comprehensive audiological assessment was performed.
- Detailed interpretation of audiological findings in the context of ALGS.
Main Results:
- The case study focused on the audiological manifestations in a child with Alagille Syndrome.
- Findings underscore the potential for hearing impairment in ALGS patients.
- The study highlights the importance of thorough audiological evaluation.
Conclusions:
- Audiologists must be aware of the audiological implications of Alagille Syndrome.
- Expertise in selecting and interpreting audiological tests is crucial for ALGS patients.
- Early and accurate diagnosis of hearing loss in ALGS can facilitate timely intervention.
