Update Emphasizes Early Diagnosis of Inherited Metabolic Polyneuropathies

Although few polyneuropathies are caused by inborn errors of metabolism, early identification is important, because therapies are becoming available that are particularly effective when used early in the disease process and because exact diagnosis is critical for genetic counseling. Burns and associates reviewed metabolic disorders that cause polyneuropathies. The authors describe the case of a two-and-a-half-year-old boy whose earlier development was slightly delayed but within normal limits, but who developed increasing gait difficulty at two years and had a polyneuropathy, positive Babinski signs, increased CSF protein level, and severe, uniform slowing …