MRI Of the Brain, EEG Sleep Spindles and SPECT in the Early Diagnosis of Infantile Neuronal Ceroid Lipofuscinosis
- 1 January 1992
- journal article
- case report
- Published by Wiley in Developmental Medicine and Child Neurology
- Vol. 34 (1) , 61-65
- https://doi.org/10.1111/j.1469-8749.1992.tb08564.x
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.Keywords
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