Krabbe leukodystrophy. Globoid cell leukodystrophy. Neonatal variant. Galactosylceramidase (galactocerebrosidase beta-galactosidase) deficiency.
Incidence
It is an autosomal recessive disorder. Very rare.
Clinical Characteristics
The disease may manifest itself in the neonatal period and even at birth. Feeding difficulties, vomiting and irritability are ususally prominent. Body stiffness and rigidity as well as myoclonic jerks become apparent especially when the child is touched. Deep tendon reflexes are usually present but nerve conduction velocity is already slow. Protein is elevated but is difficult to differentiate from normal in the newborn period.
Precipitants
Body stiffness and rigidity as well as myoclonic jerks become apparent especially when the child is touched.
Provocation Tests
no
Diagnostic Procedures
EB-W, EB-F. Diagnosis is made by examining the spinal fluid showing marked elevation of protein, slow nerve conduction velocity and abnormal MRI which shows central white matter demyelination starting usually in the periventricular region of the posterior part of the brain. Measurement of the enzyme galactosylceramidasa (galactocerebroside beta-galactosidase is done in leukocytes or cultured fibroblasts.