Abstract
We report our case of a 15 months old male child, a product of nonconsanguineous marriage presented with increased seizure frequency more than 4 times a day with fever and upper respiratory tract infection for 1 month. He diagnosed with Menkes disease and his oldest brother died at age of 5 year due to the same disease. Menkes disease is a rare congenital disorder of copper metabolism with severe multisystemic manifestations that are primarily characterized by progressive neurodegeneration and connective tissue anomalies. He had almost the typical clinical finding but also, he had other complications which are non commonly found in such cases. As the Menkes disease is incurable disease, early diagnosis and parental counseling is very important for the mother in order to prevent getting a child with same disease.
Highlights
Menkes disease (MD) is a progressive rare copper metabolism multisystemic disease
The basis of MD is mutations that have been detected in ATP7A gene which is a transmembrane protein that is responsible for transport of copper and distribution through body cells. (2) (3) It is positioned in the q arm of chromosome X at Xq21.1
This excessive accumulation in enterocytes causes generalized Copper deficiency in body tissues. (4) (5) Copper is essential for many biochemical processes such as cytochrome C oxidase, lysyl oxidase, tyrosinase and dopamine betahydroxylase
Summary
Dr Salha Aljohani[1], Abdullah Saleh Alfayez[2], Abdullah Abdulaziz Khojah[2], Mohamad S.
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