Interplay of Genetic Factors Leading to Stroke in a Child with Down’s Syndrome - A Rare Case Report

Stroke has emerged as an important cause of acquired brain injury in newborns and children. Genetic factors contribute significantly for stroke in young. We report a 2 year old female child with Down’s syndrome with left sided hemiparesis. On investigating MTHFR gene mutation (homozygous wild status at 677 and 1298 positions of MTHFR gene) and Protein S deficiency both were detected in the child. As plasma homocysteine levels were normal, so cause of stroke of being a protein S deficiency or MTHFR gene, as an isolated risk factor for stroke or interplay both of genetic factors was considered. Conclusion: This case marks the importance of coexistence of one or more risk factor in the occurrence of stroke in young and also identification of those risk factors at the earliest may help in improving overall outcome.

Author(s): Shiv Shankar D, Febna A.R, Gangadhar B. and Soumya K.K

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