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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