Menkes' disease: case report
نویسندگان
چکیده
منابع مشابه
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 ...
متن کاملMenkes kinky hair disease (Menkes syndrome). A case report.
Menkes disease (MD) is a rare genetic neurodegenerative disorder. It is caused by a mutation in the ATP7A gene, which codes for the copper-transporting ATPase in the cell organelles. Dysfunction of many copper-dependent enzymes results in low concentrations of copper in some tissues and accumulation of copper in others. We report on a boy that at the age of 2 months presented with encephalopath...
متن کاملMenkes kinky hair disease: A case report
An eight month old male infant with protein energy malnutrition was admitted in the hospital with the history of repeated attacks of convulsion since four months of age. He was also suffering from frequent attacks of cough and cold since 6 months of age which was marked prior to admission. The infant had fair complexion, sparse fuzzy wooly hair with marked trunkal hypotonia. He had also mental ...
متن کاملMENKES\' SYNDROME: REPORT OF A CASE
An 8 month old boy is presented with clinical and laboratory features of Menkes' kinky hair syndrome. A brief discussion ensues.
متن کاملMenkes kinky hair disease : A case report Asok
An eight month old male infant with protein energy malnutrition was admitted in the hospital with the history of repeated attacks of convulsion since four months of age. He was also suffering from frequent attacks of cough and cold since 6 months of age which was marked prior to admission. The infant had fair complexion, sparse fuzzy wooly hair with marked trunkal hypotonia. He had also mental ...
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ژورنال
عنوان ژورنال: Arquivos de Neuro-Psiquiatria
سال: 2007
ISSN: 0004-282X
DOI: 10.1590/s0004-282x2007000100032