Summary

Stroke has been recognised more frequently in children and represents a major cause of morbidity and mortality. It usually has an acute presentation, characterised by focal neurological signs, headache, altered state of consciousness or seizures. We report the case of an 18-month-male child with motor development disturbance, gait difficulty and preferential use of the left arm with right hemiparesis at clinical exam. Brain MRI showed an extensive damage involving corona radiata, thalamus, posterior arm of the internal capsule and left lenticular nucleus with atrophic retraction of the adjacent cerebrospinal fluid pathways, suggesting old ischaemic injury of the middle cerebral artery territory. Causal research pointed out at methyltetrahydrofolate reductase (MTHFR) C677T heterozygosity. He was referenced to physiotherapy and paediatric neurology consultation with favourable evolution and no recurrence of ischaemic events. Stroke is a relatively rare phenomenon in children; however, we have to consider it as a diagnosis in the presence of focal neurological deficits. MTHFR C677T mutation is considered a prothrombotic factor; however, in the absence of hyperhomocysteinaemia, no direct therapeutic approach is necessary.