Walsh & Hoyt: Diagnosis

The diagnosis of myelinoclastic diffuse sclerosis should be suspected when a child or young adult develops evidence of a subacute or chronic progressive neurologic disease with neuroimaging and laboratory evidence of focal hemispheric demyelinating disease but without adrenal dysfunction or abnormal long-chain fatty-acid components of serum cholesterol esters. Most patients do not have evidence of peripheral nerve damage; however, Szabo and Hegedus described a case of otherwise typical myelinoclastic diffuse sclerosis in which there was evidence of a mild peripheral neuropathy. The diagnosis may be confirmed by brain biopsy.