Infantile Krabbe disease is an autosomal recessive leukodystrophy involving both the central and peripheral nervous systems. Its diagnosis can now be established by modern laboratory methods, but effective treatment remains to be elucidated. It is important to recognize the typical and less common clinical manifestations to enable genetic counseling and prevention of the disease in high-risk populations.
In 1916, Danish neurologist Knud Krabbe, MD, described 5 infants with what he called "a new familial, infantile form of diffuse brain sclerosis."1(p74) Although his description of this new syndrome had much in common with the 1908 description by Beneke2 of a 21-month-old boy, it was Krabbe who emphasized the familial occurrence (the first 2 patients in his series were siblings). He described the initial symptoms and signs as pointing to central nervous system involvement:
Korn-Lubetzki I, Nevo Y. Infantile Krabbe Disease. Arch Neurol. 2003;60(11):1643-1644. doi:10.1001/archneur.60.11.1643