J Korean Child Neurol Soc.  2001 May;9(1):164-170.

A Case of Kinky Hair Disease

• Lee YS
• Park SW
• Cha BH
• Lim BK
• Kim JS
• Lee WS
• Kim DJ
• Kim MS
• Cho KN
• Hahn SH

Abstract

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.

Keyword

Kinky hair disease; ATP7ase

MeSH Terms

Adenosine Triphosphatases
Atrophy
Blood Vessels
Brain
Ceruloplasmin
Chromosome Aberrations
Copper
DNA
Exons
Failure to Thrive
Gene Deletion
Hair
Humans
Infant
Male
Menkes Kinky Hair Syndrome*
Microscopy, Electron
Muscle Hypotonia
Neurodegenerative Diseases
Point Mutation
Seizures
Adenosine Triphosphatases
Ceruloplasmin
Copper
DNA