Many patients with Krabbe disease present during infancy or in early childhood, However, some patients may present later, often with little reason to suspect the disorder.


Inheritance: autosomal recessive


Enzyme defect: galactocerebrosidase


Classification of the infantile form by age at onset:

(1) early infantile: before 6 months of age

(2) late infantile: from 6 to 48 months


Later onset forms:

(1) juvenile (between 3 years of age and adolescent)

(2) adolescent

(3) adult


Clinical findings may include any of the following:

(1) weakness

(2) loss of manual dexterity

(3) abnormal gait or ataxia

(4) hemiparesis

(5) muscle hypertonicity

(6) burning paresthesias or other sign of a peripheral neuropathy

(7) variable loss of vision

(8) variable intellectual deterioration

(9) variable progressive neurologic deterioration


The diagnosis if straightforward if there is a family history but can be challenging when presented with the proband,


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