"T1: can show hyperintensity of the basal ganglia similar to that of chronic hepatic encephalopathy"
"MRA: cerebral vessels usually are tortuous and elongated on MR angiograms 4-6"
"Menkes disease is named after the American physician John H Menkes (1928-2008) 7."
"Menkes disease is a multisystem disorder with an X-linked recessive inheritance, caused by mutation of the gene ATP7A located on Xq13.3. This gene encodes a copper-transporting ATPase (ATP7A) that transports copper into cells, and different mutations result in different levels of residual ATP7A functioning 9."
"Wormian bones"
Expected headings
"Musculoskeletal manifestations"
"CNS manifestations"
"MRI"
"Brain manifestations of Menkes syndrome are progressive cerebral and cerebellar atrophy, elongated and tortuous intracranial vessels as well as bilateral subdural collections or bleeds."