Cockayne syndrome: an uncommon clinical entity

Meghana Bhupathi; C. S. N. Vittal; Anjali Mediboina; Sai T. Rachakonda; Ayesha Aijaz

doi:10.18203/2349-3291.ijcp20232599

Authors

Meghana Bhupathi Alluri Sita Ramaraju Academy of Medical Sciences, Eluru, Andhra Pradesh, India
C. S. N. Vittal Department of Pediatrics, Alluri Sita Ramaraju Academy of Medical Sciences, Eluru, Andhra Pradesh, India
Anjali Mediboina Alluri Sita Ramaraju Academy of Medical Sciences, Eluru, Andhra Pradesh, India
Sai T. Rachakonda Alluri Sita Ramaraju Academy of Medical Sciences, Eluru, Andhra Pradesh, India
Ayesha Aijaz Alluri Sita Ramaraju Academy of Medical Sciences, Eluru, Andhra Pradesh, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20232599

Keywords:

Cockayne syndrome, Neurological symptoms, Microcepahly, Cockayne facies

Abstract

Cockayne syndrome is a rare autosomal recessive genetic disorder characterized by microcephaly, failure to thrive, and delayed development. It is associated with an abnormally small head size, stunted growth, and a high incidence of <1 in 250,000 live births. The clinical presentation of Cockayne syndrome varies widely, making diagnosis challenging, particularly in Southern India where limited data is available on its neurological manifestations. This case report describes a 23-year-old male patient presenting with neurological symptoms, highlighting the need for increased awareness and early detection of Cockayne syndrome in this region.

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