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 language | English (US) |
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Pages (from-to) | 2375-2377 |
Number of pages | 3 |
Journal | Radiology Case Reports |
Volume | 15 |
Issue number | 11 |
DOIs | |
State | Published - Nov 2020 |
Keywords
- MRI
- Neuronal ceroid lipofuscinosis
ASJC Scopus subject areas
- Radiology Nuclear Medicine and imaging