Kinky Hair 질환 1례

A Case of Kinky Hair Disease

저자들은 전신성 강직경련 및 발육지경, 호흡곤란으로 입원하여 추적관찰 중이던 15개월 남아에서 낮은 혈청 구리농도와 ceruloplasmin 농도를 보이며 전형적인 임상증상과 ATP7A의 Exon 19에서 점돌연변이를 보인 특징적인 Kinky hair 질환 1례를 경험하였기에 보고하는 바이다.

Kinky hair disease is X-lined recessive neurodegenerative disorder produced by defects in a gene(ATP7A) that encodes an intracellular copper-transporting ATPase. About 90-95% of the patients have a severe clinical course leading to death in early childhood. ATP7A mutations associated with Menkes disease show great variety from cytogenetic abnormalities to partial gene deletions to single base-pair changes. We experienced a 15 month old boy with loss of developmental milestones, hypotonia, seizures and failure to thrive. On laboratory findings, the levels of serum copper and ceruloplasmin were low. Electron microscopy of hair illustrated pathognomic pili torti and other abnormalities such as trichorrhexis nodosa and trichoptilosis(longitudinal splitting of the shaft). Brain magnetic resonance image showed diffuse cerebral and cerebellar atrophy with tortousity of cerebral blood vessels. Genetic defect was evaluated. Our sequencing data on the amplified exon 19 of ATP7ase genomic DNA confirmed point mutation, G1255A, resulting in a glycine-to-arginine conversion. So, we report a brief view with the related literatures.