ABSTRACT
The syndrome was first described by Krabbe in 1916 [1]. He reported five patients, of whom four represented two sets of siblings. All were normal at birth, but had rapidly progressive neurologic deterioration from an early onset at 4-6 months until death by age of 1.5-2 years. In addition to a detailed description of clinical features of the disease, he clearly documented the pathognomonic neuropathologic features of the disorder, including the accumulation of large multinucleated globoid cells in the white matter. Chemical analysis documented the accumulation of cerebroside in these cells [2,3] and the induction of globoid cells uniquely by the intracerebral administration of galactocerebroside [4,5]. The enzymatic
defect (Figure 97.1) was discovered in 1970 by Suzuki and colleagues [6,7], in galactosylceramidase (galactosylceramide--galactosidase) (EC 3.2.1.46). The cDNA has been cloned [8], and the gene was mapped to chromosome 24q24.3-32.1 [9,10]. A considerable number of mutations have been identified [11]. A single mutation, a 30 kb deletion (502Tdel) accounts for a large number of Northern European, US and Mexican patients [12,13].
