Adreno-leukodystrophy: a personal historical note

Excerpt

Siemerling and Creutzfeldt have been considered to be the first to document the simultaneous occurrence of adrenal failure and diffuse cerebral sclerosis in a child (a 7-year-old boy); but, in retrospect, Haberfeld and Spieler probably described the first clinical case in 1910. The brain from the same patient was studied by Paul Schilder in 1913, who designated this as a case of “encephalitis periaxialis diffusa”. Schilder’s name was linked to the disease until 1970, when Michael Blaw suggested the far more appropriate and current appellation of adreno-leukodystrophy (ALD). It had become apparent in the time period between the publications of Siemerling and Creutzfeldt and that of Blaw that this was a rare disease found in boys and probably due to an X-linked (previously sex-linked) genetic defect. The pathologic exposition of ALD, however, took place during the early 1970s and largely at Albert Einstein College of Medicine. The group there was spearheaded by Herb Schaumburg, an experienced neurologist and fledgling neuropathologist. Herb had been stimulated to study this perplexing disease by the legendary Ray Adams and Pierson Richardson, while he was a neuropathology fellow at Massachusetts General Hospital. Our neuropathology group at Einstein included Cedric Raine, Anne Johnson, Peter Spencer, Kinuko Suzuki, and the author (then a neuropathology trainee who had acquired some knowledge of human and experimental adrenal lesions from Gordon K. Hennigar, Jr., during his residency training in Anatomic Pathology). Herb and I also collaborated with E. P. Richardson, Jr. and Richard Cohen from Massachusetts General Hospital and Beth Israel Hospital, respectively, Jack Griffin of Johns Hopkins University and John Prineas of the New Jersey Medical School. At the same time Harry Powell and Peter Lambert at the University of California, San Diego described in detail many of the ultrastructural findings in ALD, while Herbert Budka and his colleagues at the University of Vienna published morphologic findings in an adult form of ALD. …