| A Case of Kinky Hair Disease. |
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Young Sub Lee, Seok Won Park, Byung Ho Cha, Baek Keun Lim, Jong Soo Kim, Won Soo Lee, Dong Jin Kim, Myung Soon Kim, Kyou Nam Cho, Si Houn Hahn |
1Department of Pediatrics, Wonju College of Medicine, Yonsei University, Wonju.
2Department of Dermatology, Wonju College of Medicine, Yonsei University, Wonju.
3Department of Radiology, Wonju College of Medicine, Yonsei University, Wonju.
4Department of Pediatrics, Ajou University School of Medicine, Suwon, Korea. |
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| Abstract |
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Kinky hair disease is X-linked 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. |
| Key Words:
Kinky hair disease, ATP7ase |
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