Rare Disease Show Episode 23: Understanding Cockayne Syndrome Ft. Dr Pradeep Kumar Shetty

Cockayne Syndrome is a rare genetic disorder characterized by growth failure, premature aging, photosensitivity, and developmental delays. It is caused by mutations in the ERCC6 (CSB) or ERCC8 (CSA) genes, affecting DNA repair mechanisms.

Common symptoms include intellectual disability, hearing loss, vision problems, and a distinctive facial appearance with a sunken eye socket and thin nose. Types I, II, and III vary in severity, with Type II being the most severe.

Diagnosis is based on clinical features and genetic testing. There is no cure, and management focuses on supportive care to address symptoms and improve quality of life.

In this episode, Dr Pradeep Kumar Shetty, Consultant Neurologist at Fortis Hospital, Nagarbhavi shares his insights by addressing questions asked by the Medical Dialogues team-

1. Can you explain what Cockayne Syndrome is and how it affects the nervous system, why is it classified as a rare disease?

2. What are the primary signs and symptoms for Cockayne Syndrome?

3. Can you elaborate on the diagnostic criteria for Cockayne Syndrome?

4. How do you approach treatment and management of Cockayne Syndrome in your patients?

5. What are the latest advancements in the treatment of Cockayne Syndrome?

6. What are the biggest challenges you face when treating patients with Cockayne Syndrome?

7. What advice would you give to other neurosurgeons who are new to treating patients with Cockayne Syndrome?