title: Early infantile Krabbe disease: deceptively normal magnetic resonance imaging and serial neurophysiological studies.
abstract: Early infantile Krabbe disease is a progressive neurodegenerative disease caused by deficiency of lysosomal enzyme galactocerebroside beta-galactosidase, with onset before the age of 6 months. We present serial clinical, radiological and neurophysiological findings of a patient with early infantile Krabbe disease, presenting at the third day of life with hypotonia, macrocephaly and neonatal seizures. The patient had a deceptively normal initial magnetic resonance imaging examination at the age of 3 months, with progression of the white matter disease over the following 9 months, showing a clinical picture of profound hypotonia 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 protein per h with normal values > 0.7 nmol/mg protein per h), thus confirming the diagnosis of Krabbe disease. Nerve conduction velocity and evoked potential studies, as well as the electroencephalogram, were abnormal at the age of 6 months, while serial neurophysiological studies at the age of 12 and 18 months demonstrated the progressive nature of the disease.
authors.affiliation: 1st Pediatric Clinic, Aristotelian University of Thessaloniki, Greece.
authors.forename: D I
authors.initials: DI
authors.lastname: Zafeiriou
authors.forename: A L
authors.initials: AL
authors.lastname: Anastasiou
authors.forename: E M
authors.initials: EM
authors.lastname: Michelakaki
authors.forename: P A
authors.initials: PA
authors.lastname: Augoustidou-Savvopoulou
authors.forename: G S
authors.initials: GS
authors.lastname: Katzos
authors.forename: E E
authors.initials: EE
authors.lastname: Kontopoulos
mesh_terms: D000375:Aging / Q000502:physiology; D004569:Electroencephalography; D005071:Evoked Potentials / Q000502:physiology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007965:Leukodystrophy, Globoid Cell / Q000473:pathology* / Q000503:physiopathology*; D008279:Magnetic Resonance Imaging; D009046:Motor Neurons / Q000502:physiology; D009431:Neural Conduction / Q000502:physiology; D014057:Tomography, X-Ray Computed; D001616:beta-Galactosidase / Q000097:blood / Q000172:deficiency
chemical_list: D001616:beta-Galactosidase