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

Published On 2025-01-28T12:15:06+05:30  |  Updated On 28 Jan 2025 12:15 PM IST
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Overview

Medical Dialogues presents a rare disease series, delving into the realm of uncommon medical conditions. Rare diseases are medical conditions that affect only a small percentage of the population.

Throughout this series, we'll discuss these rare diseases in various episodes, with medical experts providing clear explanations and insights.

Rare Disease Show Episode 23: In today's show we will cover Cockayne Syndrome.

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?

Speakers

Dr. Nandita Mohan

Dr. Nandita Mohan is a practicing pediatric dentist with more than 5 years of clinical work experience. Along with this, she is equally interested in keeping herself up to date about the latest developments in the field of medicine and dentistry which is the driving force for her to be in association with Medical Dialogues. She also has her name attached with many publications; both national and international. She has pursued her BDS from Rajiv Gandhi University of Health Sciences, Bangalore and later went to enter her dream specialty (MDS) in the Department of Pedodontics and Preventive Dentistry from Pt. B.D. Sharma University of Health Sciences. Through all the years of experience, her core interest in learning something new has never stopped. She can be contacted at editorial@medicaldialogues.in. Contact no. 011-43720751

Dr Pradeep Kumar Shetty

Dr Pradeep Kumar Shetty (MBBS, MD (Medicine), DM (Neurology)) is a Consultant Neurologist at Fortis Hospital, Nagrabhavi. He has a medical experience of 9 years. Dr Shetty completed his MBBS from Kasturba Medical College (KMC), Mangalore, Karnataka and further pursued MD in General Medicine from VMGMC, Solapur, Maharashtra, followed by a DM in Neurology from NIMHANS (National Institute of Mental Health and Neurosciences), Bengaluru. He specialises in Neurology and Medicine for both Outpatient and Inpatient Cases. His are of expertise include handling Stroke/Migraine and headaches, Movement disorders, Epilepsy, Demyelinating disease, Neuromuscular disorders, Cognitive disorders, Botox administration, NCS/EMG/EEG/Lumbar Puncture, Scalp and Video, Intrathecal drug administration, Nerve, skin and muscle Biopsy.
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