History of seizures with global developmental delay, clinical features of Menkes disease present, low serum copper levels.
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- there is significant cerebral and cerebellar atrophy
- dysmyelination of frontal white matter is seen.
- tortuous intracranial vessels are noted with acute bilateral infarcts in centrum semiovale
Menkes disease or "kinky hair syndrome" is an X linked disorder, gene located on Xq13.3.
The abnormality is a defect of transmembrane transport of copper resulting in increased copper deposition in intestine and pancreas, with copper deficiency in the brain. The serum copper level is low, but measurement should be made after 2 months of life as copper levels only reach adult levels after that age. The hair shows corkscrew shaft called "pili torti" or "twisted hairs".
A paradox of the disease is that copper is high in cytosol of cells but cannot be delivered to mitochondria. As a result oral or IV copper therapy is ineffective. Diffuse cerebral and cerebellar atrophy is seen, with myelination disorder in the form of delayed or demyelination.
Intracranial vessels are elongated and tortuous, as seen on conventional images but better seen on MRA. Ischaemic strokes are a known complication.
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