Neonatal Diagnosis and Treatment of Menkes Disease
نویسندگان
چکیده
منابع مشابه
Menkes disease: importance of diagnosis with molecular analysis in the neonatal period.
Menkes disease is a congenital disorder caused by changes in copper metabolism derived from mutations in the ATP7A gene. It is characterized by physical and neurological alterations. In the neonatal period, these alterations can be nonspecific, which makes early diagnosis a challenge. Diagnosis can be suspected when there are low levels of ceruloplasmin and serum copper. Molecular analysis conf...
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Menkes disease is an X-linked recessive lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration, connective tissue disturbances, and peculiar kinky hair are the main manifestations. The low serum copper and ceruloplasmin suggests the diagnosis, which is confirmed by mutation analysis of the ATP7A gene. We report an exceptional presentation of classic Menkes disease wit...
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We report the case of a male patient with a normal development in the first three months of life, presenting for global regression, central axial hypotonic syndrome, pyramidal syndrome, focal epileptic seizures, and a particular aspect of the hair - almost absent, short, sparse, lightly colored, at age of five months, becoming coarse, twisted (kinky hair) by the age of 21 months. Different dise...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2008
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-22-2-9