Electron Microscopic Observations in Infantile Neuroaxonal Dystrophy

IN 1952 and 1954, Seitelberger described four children with a degenerative disorder of the nervous system of early onset, characterized by the widespread distribution of axonal swellings in the central nervous system.1,2He pointed out the resemblance of this disorder to Hallervorden-Spatz disease, and in a later publication he proposed the name "neuroaxonal proteid dystrophy."3Cowen and Olmstead reported in 1963 two similar cases as "infantile neuroaxonal dystrophy," and emphasized the uniqueness of this clinical and pathologic entity.4Since then, there have been several additional descriptions of infantile neuroaxonal dystrophy (hereafter abbreviated as INAD).4-12A rather characteristic clinical picture has emerged, which is distinctive enough to allow for a presumptive diagnosis of this disorder during life.9Recently we have had the opportunity to study by cerebral biopsy another child with clinical findings strongly suggestive ofINAD. The present case has provided us with an opportunity