European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
-
Eur. J. Paediatr. Neurol. · Nov 2015
Case ReportsDevastating recurrent brain ischemic infarctions and retinal disease in pediatric patients with CD59 deficiency.
Identification of CD59 p. Cys89Tyr mutation in 5 patients from North-African Jewish origin presenting with chronic inflammatory demyelinating polyradiculoneuropathy like disease and chronic hemolysis, led us to reinvestigate an unsolved disease in 2 siblings from the same origin who died 17 years ago. The two patients carried the same CD59 gene mutation previously described by our group. ⋯ Revising the brain autopsy of one of these patients confirmed the finding of multiple brain infarctions of different ages. CD59 protein expression was missing on brain endothelial cells by immunohistochemical staining. This new data expands the clinical spectrum of CD59 mutations and further emphasizes the need for its early detection and treatment.
-
Eur. J. Paediatr. Neurol. · Nov 2015
Case ReportsA rare cause of status epilepticus; alpha lipoic acid intoxication, case report and review of the literature.
Alpha lipoic acid is a powerful antioxidant widely used for the supplementary treatment of diabetic neuropathy. Intoxication with alpha lipoic acid is very rare. There is no reported dose of safety in children. ⋯ Alpha lipoic acid and derivatives cause side effects in children like refractory convulsions. They are frequently rendered as vitamins by diabetic patients and are left at places where children can easily access them. Therefore, when faced with refractory convulsions in children who have had no disease before, intoxication by medicaments with alpha lipoic acid should be taken into consideration.