title: Serial MRI findings in the Costa Rican variant of neuronal ceroid-lipofuscinosis.
abstract: Widespread cerebral atrophy and basal ganglia involvement are highly suggestive imaging features of the variants of late infantile type neuronal ceroid-lipofuscinosis. In the presence of clinical findings indicative of neuronal ceroid-lipofuscinosis, neuroimaging procedures are highly recommended to differentiate the variants from classic late infantile neuronal ceroid-lipofuscinosis. The clinical features and follow-up magnetic resonance imaging studies in a patient with the Costa Rican variant of late infantile neuronal ceroid-lipofuscinosis is presented. These procedures were of the utmost importance to observe the progression of the neurologic ailment and the extent of the cerebral and cerebellar abnormalities.
authors.affiliation: Department of Neuropediatrics, University Hospital, Maracaibo, Venezuela.
authors.forename: J A
authors.initials: JA
authors.lastname: Peña
authors.forename: J J
authors.initials: JJ
authors.lastname: Cardozo
authors.forename: C M
authors.initials: CM
authors.lastname: Montiel
authors.forename: O M
authors.initials: OM
authors.lastname: Molina
authors.forename: R
authors.initials: R
authors.lastname: Boustany
mesh_terms: D001284:Atrophy; D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15; D003937:Diagnosis, Differential; D018450:Disease Progression; D005260:Female; D008040:Genetic Linkage; D005911:Gliosis; D006801:Humans; D008279:Magnetic Resonance Imaging; D009472:Neuronal Ceroid-Lipofuscinoses / Q000145:classification / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology