Menkes' disease: case report.
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.
Agertt
Fabio
F
Neurology and Neuropediatrics Services, Hospital de Clínicas, Federal University of Paraná, Rua General Carneiro 181, 80060-900 Curitiba, PR, Brazil.
Crippa
Ana C S
AC
Lorenzoni
Paulo J
PJ
Scola
Rosana H
RH
Bruck
Isac
I
Paola
Luciano de
Ld
Silvado
Carlos E
CE
Werneck
Lineu C
LC
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*
D003300:Copper; D002570:Ceruloplasmin