Presentation
History of seizures with global developmental delay, clinical features of Menkes disease present, low serum copper levels.
Patient Data
- there is significant cerebral and cerebellar atrophy
- dysmyelination of frontal white matter
- tortuous intracranial vessels are noted with acute bilateral infarcts in centrum semiovale
Case Discussion
Menkes disease or "kinky hair syndrome" is a multi-systemic disorder with an X-linked inheritance, and mutation of the gene ATP7A 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 progressive 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. Ischemic strokes are a known complication.