SWY Lau, LY Tsung, WT Poon

Abstract

Cockayne syndrome (CS) is a rare autosomal recessive disorder with severe growth failure and developmental delay. There are multisystem manifestations including premature aging, microcephaly, cataract, pigmentary retinopathy, sensorineural deafness, photosensitivity, peripheral neuropathy and dysmorphic facial features. Characteristic neuroimaging findings include hypomyelination, basal ganglion calcifications and brain atrophy. This is the first local case report of CS in Hong Kong.