Menkes' disease: case report

Arquivos de Neuro-Psiquiatria

Fabio Agertt¹  Ana C.s. Crippa¹  Paulo J. Lorenzoni¹  Rosana H. Scola¹  Isac Bruck¹  Luciano De Paola¹  Carlos E. Silvado¹  Lineu C. Werneck¹ 

[1] ,Federal University of Paraná Hospital de Clínicas Neurology and Neuropediatrics ServicesCuritiba PR ,Brazil

关键词: Menkes’ disease;    copper;    ceruloplasmin;    doença de Menkes;    cobre;    ceruloplasmina;   

DOI  :  10.1590/S0004-282X2007000100032

来源: SciELO

【 摘 要 】

Menkes’ disease is a rare neurodegenerative disorder due to an intracellular defect of a copper transport protein. We describe a 7 months male patient who presented with seizures, hypoactivity and absence of visual contact. The investigation disclosed pilli torti and thrycorrexis nodosa in the hair, low serum levels of both copper and ceruloplasmin, brain magnetic resonance study showed atrophy and white matter hypointensities on T1-weighted images, electroencephalogram reveals moderate background activity disorganization and epileptiform activity, and muscle biopsy with type 2 fiber atrophy. The clinical, laboratorial, genetic, muscle biopsy and neurophysiological findings in Menkes’ disease are discussed.

【 授权许可】

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