The initial diagnosis of Menkes disease (MD) and its milder variants such as<unk>  is based on the clinical symptoms. Low serum copper and ceruloplasmin levels support the clinical suspicion of<unk> , but biochemical confirmation in tissue culture is needed. The ultimate diagnostic proof is the demonstration of a molecular defect in ATP7A. Demonstration of the bony protuberances on the occiput will clinch the diagnosis, and these can be palpated in some patients.
Occipital horn syndrome
Lateral medullary syndrome
Medial medullary syndrome
Central cord syndrome
Posterior cord syndrome
Surfer's myelopathy
Lateral pontine syndrome
Medial pontine syndrome