RT Journal Article
SR Electronic
T1 Roth spots in pyridoxine dependent epilepsy
JF BMJ Case Reports
FD BMJ Publishing Group Ltd
SP bcr0520114209
DO 10.1136/bcr.05.2011.4209
VO 2011
A1 Levinus A Bok
A1 Feico Halbertsma
A1 Frank Kerkhoff
A1 Cornelis Jakobs
A1 Carola Duijsters
A1 Michèl Willemsen
YR 2011
UL http://casereports.bmj.com/content/2011/bcr.05.2011.4209.abstract
AB 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.