Table of Contents

HK J Paediatr (New Series)
Vol 28. No. 2, 2023

HK J Paediatr (New Series) 2023;28:125-129

Case Report

Characteristic Hypomyelination with Basal Ganglia Calcifications in a Chinese Girl: A Case of Cockayne Syndrome

SWY Lau, LY Tsung, WT Poon


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.

Keyword : Cockayne syndrome; Developmental delay; Growth failure


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