Hippocampal volumes in juvenile neuronal ceroid lipofuscinosis: a longitudinal magnetic resonance imaging study

Pediatr Neurol. 2014 Feb;50(2):158-63. doi: 10.1016/j.pediatrneurol.2013.10.013. Epub 2013 Oct 30.


Background: Juvenile neuronal ceroid lipofuscinosis is an inherited, autosomal recessive, progressive, neurodegenerative disorder of childhood. It belongs to the lysosomal storage diseases, which manifest with loss of vision, seizures, and loss of cognitive and motor functions, and lead to premature death. Imaging studies have shown cerebral and cerebellar atrophy, yet no previous studies evaluating particularly hippocampal atrophy have been published. This study evaluates the hippocampal volumes in adolescent juvenile neuronal ceroid lipofuscinosis patients in a controlled 5-year follow-up magnetic resonance imaging study.

Methods: Hippocampal volumes of eight patients (three female, five male) and 10 healthy age- and sex-matched control subjects were measured from two repeated magnetic resonance imaging examinations. Three male patients did not have controls and were excluded from the statistics. In the patient group, the first examination was performed at the mean age of 12.2 years and the second examination at the mean age of 17.3 years. In the control group, the mean ages at the time of examinations were 12.5 years and 19.3 years.

Results: Progressive hippocampal atrophy was found in the patient group. The mean total hippocampal volume decreased by 0.85 cm³ during the 5-year follow-up in the patient group, which corresponds to a 3.3% annual rate of volume loss. The whole brain volume decreased by 2.9% per year. The observed annual rate of hippocampal atrophy also exceeded the previously reported 2.4% annual loss of total gray matter volume in juvenile neuronal ceroid lipofuscinosis patients.

Conclusions: These data suggest that progressive hippocampal atrophy is one of the characteristic features of brain atrophy in juvenile neuronal ceroid lipofuscinosis in adolescence.

Keywords: Batten disease; CLN3; JNCL; MRI volumetry; NCL; hippocampus; juvenile neuronal ceroid lipofuscinosis; lysosomal storage disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Anticonvulsants / therapeutic use
  • Atrophy / pathology
  • Brain / growth & development
  • Brain / pathology
  • Case-Control Studies
  • Child
  • Female
  • Follow-Up Studies
  • Hippocampus / growth & development
  • Hippocampus / pathology*
  • Humans
  • Longitudinal Studies
  • Magnetic Resonance Imaging
  • Male
  • Neuronal Ceroid-Lipofuscinoses / drug therapy
  • Neuronal Ceroid-Lipofuscinoses / genetics
  • Neuronal Ceroid-Lipofuscinoses / pathology*
  • Organ Size
  • Young Adult


  • Anticonvulsants