Electron Microscopic Observations in Infantile Neuroaxonal Dystrophy

Abstract

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