Werdnig-Hoffmann disease refers to the severe infantile form of anterior ho
rn cell degeneration. We report an association between Werdnig-Hoffmann dis
ease and agyria-pachygyria. Examples of anterior horn cell disease with les
ions in the central nervous system (notably thalamus and cerebellum) have b
een considered unusual "variants" of Werdnig-Hoffmann disease. This associa
tion between Werdnig-Hoffmann disease and agyria-pachygyria has, to our kno
wledge, never been described.