SERIAL MRI AND NEUROPHYSIOLOGICAL STUDIES IN LATE-INFANTILE KRABBE DISEASE

We report serial clinical, radiological, and neurophysiological findin gs of a patient with late-infantile Krabbe disease. At age 13 months, the patient was hospitalized for sudden stiffness and irritability and a diagnosis of spastic diplegia was made. At age 24 months, he was re admitted because of further psychomotor deterioration; neurologically, he manifested severe spastic tetraplegia with optic atrophy, MRT disc losed diffuse high intensity in the cerebral white matter on T-2-weigh ted images, Nerve conduction velocity and evoked potential studies wer e markedly abnormal, as were the EEG and the EMG, Assay of galactocere broside beta-galactosidase activity in leukocyte culture disclosed a m arked deficiency of the enzyme, confirmatory of the diagnosis of late- infantile Krabbe disease, Serial MRI and neurophysiological studies pe rformed every 6 months for 18 months demonstrated the progressive natu re of the disorder, correlating with the clinical deterioration. (C) 1 996 by Elsevier Science Inc. All rights reserved.