title: Menkes' disease: case report.
abstract: 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.
authors.affiliation: Neurology and Neuropediatrics Services, Hospital de Clínicas, Federal University of Paraná, Rua General Carneiro 181, 80060-900 Curitiba, PR, Brazil.
authors.forename: Fabio
authors.initials: F
authors.lastname: Agertt
authors.forename: Ana C S
authors.initials: AC
authors.lastname: Crippa
authors.forename: Paulo J
authors.initials: PJ
authors.lastname: Lorenzoni
authors.forename: Rosana H
authors.initials: RH
authors.lastname: Scola
authors.forename: Isac
authors.initials: I
authors.lastname: Bruck
authors.forename: Luciano de
authors.initials: Ld
authors.lastname: Paola
authors.forename: Carlos E
authors.initials: CE
authors.lastname: Silvado
authors.forename: Lineu C
authors.initials: LC
authors.lastname: Werneck
mesh_terms: D002570:Ceruloplasmin / Q000032:analysis*; D003300:Copper / Q000097:blood*; D004569:Electroencephalography; D004576:Electromyography; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000097:blood / Q000175:diagnosis*
chemical_list: D003300:Copper; D002570:Ceruloplasmin