Ann Pediatr Res | Volume 6, Issue 2 | Case Report | Open Access

A Unique Presentation of Cockayne Syndrome with a Pure Neurological Phenotype

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, India

^*Correspondance to: Benjamin Sagayaraj 

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Abstract

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.

Keywords:

Cockayne syndrome; Neurological; Atypical; Failure to thrive; Growth retardation

Citation:

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..