Serial MRI and neurophysiological studies in late-infantile Krabbe disease.
We report serial clinical, radiological, and neurophysiological findings 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 readmitted because of further psychomotor deterioration; neurologically, he manifested severe spastic tetraplegia with optic atrophy. MRI disclosed diffuse high intensity in the cerebral white matter on T2-weighted images. Nerve conduction velocity and evoked potential studies were markedly abnormal, as were the EEG and the EMG. Assay of galactocerebroside beta-galactosidase activity in leukocyte culture disclosed a marked deficiency of the enzyme, confirmatory of the diagnosis of late-infantile Krabbe disease. Serial MRI and neurophysiological studies performed every 6 months for 18 months demonstrated the progressive nature of the disorder, correlating with the clinical deterioration.
Zafeiriou
D I
DI
1st Pediatric Clinic, Aristotelian University of Thessaloniki, Greece.
Michelakaki
E M
EM
Anastasiou
A L
AL
Gombakis
N P
NP
Kontopoulos
E E
EE
D001921:Brain / Q000473:pathology*; D002478:Cells, Cultured; D004569:Electroencephalography; D004576:Electromyography; D019054:Evoked Potentials, Motor; D005698:Galactosylceramidase / Q000302:isolation & purification; D006801:Humans; D007223:Infant; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000201:enzymology; D008279:Magnetic Resonance Imaging; D008297:Male; D009431:Neural Conduction; D011596:Psychomotor Disorders / Q000209:etiology; D011859:Radiography
D005698:Galactosylceramidase