Chidambaram AC, Vidhyasagar K, Dinesh Babu RM, Vijayagopalan DK, Manga HS and Sagayaraj B*
Department of Pediatrics, Saveetha Institute of Medical and Technical Sciences, Chennai, IndiaFulltext PDF
Cockayne Syndrome (CS) is a genetic disorder characterized by growth retardation, neuromotor disabilities, impaired vision, hearing, intellectual deficit and dermatological abnormalities. Its incidence is estimated to be 1 in 250,000 live births. It occurs due to defective DNA repair by nucleotide excision repair. There are four different types of CS - a) the classical form- CS type I characterized by progressive symptoms, apparent after one year of age; b) Congenital form- CS type II, symptoms apparent at birth; c) CS type III presents in later childhood; d) fourth type- Xeroderma Pigmentosa-Cockayne Syndrome (XP-CS) combining the manifestations of both diseases.
Cockayne syndrome; Neurological; Atypical; Failure to thrive; Growth retardation
Chidambaram AC, Vidhyasagar K, Dinesh Babu RM, Vijayagopalan DK, Manga HS, Sagayaraj B. A Unique Presentation of Cockayne Syndrome with a Pure Neurological Phenotype. Ann Pediatr Res. 2022; 6(2): 1069..