title: MRI of the brain, EEG sleep spindles and SPECT in the early diagnosis of infantile neuronal ceroid lipofuscinosis.
abstract: Two patients with infantile neuronal ceroid lipofuscinosis are presented whose clinical diagnosis was based on the typical clinical picture, together with absent sleep spindles and MRI findings (hypointense thalami and hyperintense periventricular white matter) as early as 18 months in one girl. In addition to a flat cortical SEP, these abnormalities appeared earlier than the typical ERG and VEP findings used previously for clinical diagnosis of this condition. MRI of the other patient showed the same changes and EEG sleep spindles were absent by two years.
authors.affiliation: Department of Child Neurology, University of Helsinki, Finland.
authors.forename: P
authors.initials: P
authors.lastname: Santavuori
authors.forename: R
authors.initials: R
authors.lastname: Raininko
authors.forename: S L
authors.initials: SL
authors.lastname: Vanhanen
authors.forename: J
authors.initials: J
authors.lastname: Launes
authors.forename: K
authors.initials: K
authors.lastname: Sainio
mesh_terms: D001921:Brain / Q000098:blood supply / Q000473:pathology / Q000503:physiopathology; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004569:Electroencephalography; D005071:Evoked Potentials / Q000502:physiology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008279:Magnetic Resonance Imaging; D009460:Neurologic Examination; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000503:physiopathology; D012039:Regional Blood Flow / Q000502:physiology; D012894:Sleep Stages / Q000502:physiology*; D015899:Tomography, Emission-Computed, Single-Photon