A rare case of hyperhomocysteinemia-associated thrombotic stroke in the pediatric age group


Rheumatology, Advocate Aurora Healthcare


Association between hyperhomocysteinemia and stroke has been well documented in the literature. However, there are limited reports revealing stroke events in the pediatric population affected by hyperhomocysteinemia. Herein, we present a case which shows genetically inherited hyperhomocysteinemia leading to a stroke event in a 14-year-old child. The patient presented to the outpatient clinic with dizziness and nonprojectile vomiting since the previous day without any history of weakness in the extremities or unconsciousness. The preliminary neurologic examination showed positive right-sided cerebellar signs like ataxia on physical examination and the final diagnostic workup confirmed acute non-hemorrhagic bilateral cerebellar and medullary infarction with hyperhomocysteinemia. We discuss the case presentation, diagnostic workup, and management strategies.

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