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Cri-Du-Chat Syndrome - A Rare Case Report.
Balaji Dhanasekaran1, Rajasekaran Srinivasan1, Priya Kanagamuthu1
1Dept. of ENT, Chettinad Hospital and Research Institute, Kelambakkam, India.
Summary
Cri-du-chat syndrome (CdCs), a genetic disorder from chromosome 5p deletion, presents with developmental delays and physical abnormalities. Early identification of hearing loss and speech rehabilitation are crucial for managing associated otological issues.
Area of Science:
- Genetics
- Pediatrics
- Otolaryngology
Background:
- Cri-du-chat syndrome (CdCs) is a rare genetic disorder caused by a deletion on the short arm of chromosome 5 (5p-).
- It is characterized by a distinctive cat-like cry in infancy, developmental delays, and various physical anomalies.
- Autistic behaviors have been increasingly recognized in genetic disorders, including CdCs.
Purpose of the Study:
- To highlight the otological manifestations and management of Cri-du-chat syndrome.
- To emphasize the importance of a multidisciplinary approach in diagnosing and managing patients with CdCs.
- To stress the need for increased awareness of antenatal screening and genetic counseling.
Main Methods:
- Case report of a patient with Cri-du-chat syndrome presenting with external auditory canal atresia, hearing loss, and speech delay.
- Review of recent literature on Cri-du-chat syndrome, autistic features, and otological manifestations.
- Discussion of the multidisciplinary approach for diagnosis and management.
Main Results:
- The case presented with external auditory canal atresia, hearing loss, and speech delay, common in CdCs.
- Autistic behaviors are frequently associated with Cri-du-chat syndrome, with fatigue levels correlating with autistic features.
- A multidisciplinary approach is essential for comprehensive patient care.
Conclusions:
- Early identification and management of hearing loss and speech delay are critical in Cri-du-chat syndrome patients.
- Genetic counseling and antenatal screening awareness are vital for the general population.
- Integrated care involving various specialists improves outcomes for individuals with Cri-du-chat syndrome.
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