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Roth spots in pyridoxine dependent epilepsy
Levinus A Bok1, Feico Halbertsma, Frank Kerkhoff
1Department of Pediatrics, Maxima Medisch Centrum Veldhoven, Veldhoven, Brabant, Netherlands. l.bok@mmc.nl
BMJ Case Reports
|June 13, 2012
Summary
Pyridoxine dependent epilepsy (PDE), a rare metabolic disorder, can manifest with Roth spots, indicating potential vasogenic damage. This finding suggests a novel pathogenic mechanism in PDE beyond typical infection-related causes.
Area of Science:
- Neurology
- Metabolic Disorders
- Ophthalmology
Background:
- Pyridoxine dependent epilepsy (PDE) is a rare inherited metabolic disorder affecting lysine degradation.
- The precise pathogenesis of PDE remains incompletely understood.
Observation:
- A neonate diagnosed with confirmed PDE presented with bilateral Roth spots on day five of life.
- Roth spots are retinal hemorrhages typically associated with systemic insults or infections.
Findings:
- No signs of infection were detected biochemically or microbiologically in the patient.
- Cerebral MRI revealed abnormal diffusion signals and minor subdural hemorrhage.
Implications:
- The presence of Roth spots in this PDE patient suggests a potential vasogenic mechanism contributing to the disease.
- This observation may offer new insights into the pathophysiology of pyridoxine dependent epilepsy.
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