EARLY INFANTILE KRABBE-DISEASE - DECEPTIVELY NORMAL MAGNETIC-RESONANCE-IMAGING AND SERIAL NEUROPHYSIOLOGICAL STUDIES

Early infantile Krabbe disease is a progressive neurodegenerative dise ase caused by deficiency of lysosomal enzyme galactocerebroside P-gala ctosidase, with onset before the age of 6 months. We present serial cl inical, radiological and neurophysiological findings of a patient with early infantile Krabbe disease, presenting at the third day of life w ith hypotonia, macrocephaly and neonatal seizures. The patient had a d eceptively normal initial magnetic resonance imaging examination at th e age of 3 months, with progression of the white matter disease over t he following 9 months, showing a clinical picture of profound hypotoni a with pyramidal and pseudobulbar signs, as well as mild optic atrophy . Assay of galactocerebroside beta-galactosidase activity in leukocyte culture disclosed a marked deficiency of the enzyme (0.00 nmol/ mg pr otein per h with normal values >0.7 nmol/mg protein per h), thus confi rming the diagnosis of Krabbe disease. Nerve conduction velocity and e voked potential studies, as well as the electroencephalogram, were abn ormal al the age of 6 months, while serial neurophysiological studies at the ape of 12 and 18 months demonstrated the progressive nature of the disease. (C) 1997 Elsevier Science B.V.