Your browser doesn't support javascript.
loading
A Case of Kinky Hair Disease / 대한소아신경학회지
Journal of the Korean Child Neurology Society ; (4): 164-170, 2001.
Artigo em Coreano | WPRIM | ID: wpr-112632
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.
Assuntos

Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Atrofia / Convulsões / Vasos Sanguíneos / Encéfalo / Ceruloplasmina / DNA / Microscopia Eletrônica / Éxons / Aberrações Cromossômicas / Mutação Puntual Limite: Humanos / Lactente / Masculino Idioma: Coreano Revista: Journal of the Korean Child Neurology Society Ano de publicação: 2001 Tipo de documento: Artigo

Similares

MEDLINE

...
LILACS

LIS

Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Atrofia / Convulsões / Vasos Sanguíneos / Encéfalo / Ceruloplasmina / DNA / Microscopia Eletrônica / Éxons / Aberrações Cromossômicas / Mutação Puntual Limite: Humanos / Lactente / Masculino Idioma: Coreano Revista: Journal of the Korean Child Neurology Society Ano de publicação: 2001 Tipo de documento: Artigo