Serial MRI findings in the Costa Rican variant of neuronal ceroid-lipofuscinosis.
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.
Peña
J A
JA
Department of Neuropediatrics, University Hospital, Maracaibo, Venezuela.
Cardozo
J J
JJ
Montiel
C M
CM
Molina
O M
OM
Boustany
R
R
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