Discussion in 'Spot Diagnosis' started by Egyptian Doctor, Aug 15, 2011.
t i think it's rare disorder called Menkes disease (MNK) ..it affects copper in the body that lead to it's deficency ..some of it's symptoms is steel sparse hair..fair complexion, The chubby cheeks, irritable baby,(seizures) which i can feel it in this baby,pale, pigmented skin colour.
Menkes – Is an inborn error of metabolism transmitted via X-linked recessive trait.
Absorption insufficiency leads to poor distribution in different parts of the body.
Enzymes majorly require copper transporters for synthesis of bone, aid in nerve conduction, skin, blood vessels etc.
Feeding Problemos (according to the SPOT diagnosis order, the NG tube enlightens)
Kinky Hair (the disease is otherwise known as Menkes kinky Hair Syndrome, very evident. Thought it could be just a response towards strong emotion and excitement while taking the photograph)
Hypotonia (loss of muscle tone)
Low body temperature
Rosy cheeks etc
Answer : Menkes disease
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