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Findings that shed new light on the possible pathogenesis of a disease or an adverse effect
Roth spots in pyridoxine dependent epilepsy
  1. Levinus A Bok1,
  2. Feico Halbertsma1,
  3. Frank Kerkhoff2,
  4. Cornelis Jakobs3,
  5. Carola Duijsters1,
  6. Michèl Willemsen4
  1. 1Department of Pediatrics, Maxima Medisch Centrum Veldhoven, Veldhoven, Brabant, Netherlands.
  2. 2Department of Ophthalmology, Maxima Medisch Centrum Veldhoven, Veldhoven, Netherlands.
  3. 3Department of Clinical Chemistry, VU University Medical Centre Amsterdam, Amsterdam, Netherlands
  4. 4Department of Paediatric Neurology, Radboud University Nijmegen Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Donders Institute, Nijmegen, Netherlands
  1. Correspondence to Mr Levinus A Bok, l.bok{at}mmc.nl

Summary

Pyridoxine dependent epilepsy (PDE) is a rare metabolic defect in the degradation of lysine. The authors report a patient with metabolic and DNA confirmed PDE, on the fifth day of life ophthalmoscopy showed bilateral multiple white centred retinal haemorrhages, so called Roth spots. Roth spots are non-specific haemorrhagic signs that occur in a variety of conditions of acute systemic insults in homeostasis – most often infections- which relate to retinal capillary damage and the ensuing reparative process. No biochemical or microbiological signs of infection were present in blood and liquor. MRI of the brain showed an abnormal diffusion signal with increased apparent diffusion coefficient and little blood around the tentorium.

The knowledge of the pathogenesis of PDE is still limited. The presence of Roth spots is suggestive for a pathogenic mechanism of vasogenic damage in PDE.

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Footnotes

  • Competing interests None.

  • Patient consent Obtained.

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