Serial MRI findings in the Costa Rican variant of neuronal ceroid-lipofuscinosis

Pediatr Neurol. 2001 Jul;25(1):78-80. doi: 10.1016/s0887-8994(01)00284-3.

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.

Publication types

  • Case Reports

MeSH terms

  • Atrophy
  • Brain / pathology*
  • Child, Preschool
  • Chromosomes, Human, Pair 15
  • Diagnosis, Differential
  • Disease Progression
  • Female
  • Genetic Linkage
  • Gliosis
  • Humans
  • Magnetic Resonance Imaging*
  • Neuronal Ceroid-Lipofuscinoses / classification
  • Neuronal Ceroid-Lipofuscinoses / diagnosis*
  • Neuronal Ceroid-Lipofuscinoses / genetics
  • Neuronal Ceroid-Lipofuscinoses / pathology