Abstract
Abstract Recurrent stroke, though relatively rare, is a significant cause of neurological morbidity and mortality in childhood. Arteriopathy is the commonest cause of recurrent stroke in children. We report a case of a 4-year-old child, who presented with three events of stroke and hypertension with elevated inflammatory markers. Neuroimaging studies showed lacunar infarcts in the deep grey matter and brainstem. A systemic vasculitis syndrome such as polyarteritis nodosa was considered when the child developed painful skin nodules and joint symptoms later in the course of disease. Parental consanguinity and PAN like features in a young child with predominant neurological involvement in the form of recurrent lacunar stroke led us to the possibility of DADA2. Subsequent investigations revealed deficiency of ADA2 enzyme and a homozygous mutation at p.Gly47Arg of ADA2 gene. Anti TNF agents like etanarcept is the mainstay of treatment of DADA2 associated vasculitis and prevention of cerebrovascular events.
Published Version
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