MRI findings in neuronal ceroid lipofuscinosis

Anna M. Crain, Deanna L. Kitchen, Nikhil Godiyal, Cory M. Pfeifer

Research output: Contribution to journalArticlepeer-review

Abstract

Neuronal ceroid lipofuscinosis is a rare cause for developmental delay and seizures that results in neurodegeneration. Presented here is a case of a 5-year-old male who presented for MRI following a delay in achieving developmental milestones and epilepsy. MRI was performed demonstrating a thinned corpus callosum and generalized low parenchymal volume with periventricular gliosis. Magnetic resonance spectroscopy showed glutamate/glutamine accumulation and diminished N-acetylaspartate. The diagnosis of neuronal ceroid lipofusciosis was revealed following genetic testing. This case is useful in showing findings of this rare disorder.

Original languageEnglish (US)
Pages (from-to)2375-2377
Number of pages3
JournalRadiology Case Reports
Volume15
Issue number11
DOIs
StatePublished - Nov 2020

Keywords

  • MRI
  • Neuronal ceroid lipofuscinosis

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

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