Bok Levinus A, Halbertsma Feico, Kerkhoff Frank, Jakobs Cornelis, Duijsters Carola, Willemsen Michèl
Department of Pediatrics, Maxima Medisch Centrum Veldhoven, Veldhoven, Brabant, Netherlands.
BMJ Case Rep. 2011 Aug 17;2011:bcr0520114209. doi: 10.1136/bcr.05.2011.4209.
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.
维生素B6依赖型癫痫（PDE）是赖氨酸降解过程中一种罕见的代谢缺陷。作者报告了一名经代谢和DNA检测确诊为PDE的患者，出生后第5天进行眼底检查发现双侧多个以白色为中心的视网膜出血，即所谓的 Roth斑。Roth斑是一种非特异性出血体征，出现在各种急性全身内环境稳态受损的情况下——最常见于感染——这与视网膜毛细血管损伤及随后的修复过程有关。血液和脑脊液中未出现感染的生化或微生物学迹象。脑部MRI显示有异常扩散信号，表观扩散系数增加，小脑幕周围几乎无血液信号。目前对PDE发病机制的了解仍然有限。Roth斑的存在提示PDE存在血管源性损伤的致病机制。
