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Isabelle Korn-Lubetzki, MD; Yoram Nevo, MD

Arch Neurol. 2003;60:1643-1644.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

INTRODUCTION

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.

FIRST DESCRIPTION

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:

When 5 months old he began to cry frequently and convulsively. At . . . [Full Text of this Article]