Cockayne Syndrome: A Rare neurodegenerative Disorder- A Case Report
Abstract:
Cockayne Syndrome (CS) is a rare autosomal recessive
disorder characterised by multi-systemic involvement,
including developmental delay, microcephaly, cachectic
dwarfism, hearing and visual impairment, cardiac, renal
and endocrine complications due to a defect in the DNA
repair mechanism. The striking feature of CS is bilateral
basal ganglia calcifications. We are presenting a 9-monthold
boy presenting with developmental delay, microcephaly,
multiple renal abnormalities and the brain CT scan showing
bilateral basal ganglia calcifications.