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
Herman MM, Huttenlocher PR, Bensch KG. Electron Microscopic Observations in Infantile Neuroaxonal Dystrophy: Report of a Cortical Biopsy and Review of the Recent Literature. Arch Neurol. 1969;20(1):19–34. doi:10.1001/archneur.1969.00480070029004
Coronavirus Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: