Menkes' disease: case report
| Autor: | Paulo José Lorenzoni, Carlos Silvado, Ana Chrystina de Souza Crippa, Fabio Agertt, Rosana Herminia Scola, Isac Bruck, Lineu Cesar Werneck, Luciano de Paola |
|---|---|
| Rok vydání: | 2006 |
| Předmět: |
Male
Pathology medicine.medical_specialty White matter Atrophy medicine Humans Menkes Kinky Hair Syndrome Muscle biopsy medicine.diagnostic_test biology business.industry Electromyography Ceruloplasmin Infant Magnetic resonance imaging Electroencephalography medicine.disease Magnetic Resonance Imaging medicine.anatomical_structure Neurology biology.protein Menkes disease Neurology (clinical) Hypoactivity business Copper |
| Zdroj: | Arquivos de neuro-psiquiatria. 65(1) |
| ISSN: | 0004-282X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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