Cockayne syndrome is a rare autosomal recessive genetic disorder resulting from a DNA repair defect, leading to heightened sensitivity of cells in affected individuals to the lethal effects of UV light. Individuals with this disorder display unique facial characteristics, including sunken eyes, a beaked nose, and prominent ears, and also experience progressive dementia. In addition to these characteristics, individuals with Cockayne syndrome frequently exhibit cachectic dwarfism, intellectual disabilities, skin and hair thinning, failure to thrive, short stature with a stooped standing posture, microcephaly, progressive neurological dysfunction resulting from demyelination, retinal degeneration accompanied by pigmented retinopathy and optic atrophy, kyphoscoliosis, gait defects, neuromotor abnormalities, compromised vision and hearing, and sun sensitivity.Cockayne syndrome manifests as a spectrum that can be divided into 3 types—I, II, and III. The condition is specifically associated with 2 defective genes—the ERCC8 (Cockayne syndrome A or CSA) gene for Cockayne syndrome type I and the ERCC6 (Cockayne syndrome B or CSB) gene for Cockayne syndrome type II. An additional variant—the xeroderma pigmentosum–Cockayne syndrome overlap complex—stems from mutations in different ERCC genes such as ERCC2, ERCC3, and XPD. The treatment for CS is mainly supportive and focuses on managing and preventing the associated complications. This activity reviews the etiology, pathophysiology, diagnosis, and management of Cockayne syndrome types 1 and 2 while emphasizing the importance of the early involvement of a multidisciplinary healthcare team to improve patient care for this complex and rare condition.
- Provider:StatPearls, LLC
- Activity Link: https://www.statpearls.com/ArticleLibrary/viewarticle/19676
- Start Date: 2023-09-01 05:00:00
- End Date: 2023-09-01 05:00:00
- Credit Details: AMA PRA Category 1 Credit™️: 1.0 hours
Nursing: 1.0 hours
Pharmacy: 1.0 hours - MOC Credit Details: ABS - 1.0 Point; Credit Type(s): Accredited CME (ABS)
ABOS - 1.0 Point; Credit Type(s): Accredited CME (ABOS)
ABPATH - 1.0 Point; Credit Type(s): Lifelong Learning (ABPATH)
ABIM - 1.0 Point; Credit Type(s): Medical Knowledge (ABIM)
ABS - 1.0 Point; Credit Type(s): Self-Assessment (ABS)
ABP - 1.0 Point; Credit Type(s): Lifelong Learning and Self-Assessment (ABP)
ABOHNS - 1.0 Point; Credit Type(s): Self-Assessment (ABOHNS) - Commercial Support: No
- Activity Type: Enduring Material
- CME Finder Type: Online Learning
- Fee to Participate: Variable
- Measured Outcome: Learner Knowledge, Learner/Team Competence
- Provider Ship: Directly Provided
- Registration: Open to all
- Specialty: Adolescent Medicine, General Otolaryngology, General Pediatrics, General Surgery, Internal Medicine, Molecular Genetic Pathology, Neonatal-Perinatal Medicine, Neuropathology (incl. Neuromuscular), Pediatric Endocrinology, Pediatric Gastroenterology, Pediatric Nephrology, Pediatric Neurology, Pediatric Orthopaedic Surgery, Pediatric Otolaryngology, Surgery of the Spine