Disclosures: Kristen Courtney, DO: No financial relationships or conflicts of interest

Case Diagnosis: 6-month-old term male with acute preferential left-handedness, right upper extremity weakness, and neglect suspected secondary to intrauterine or perinatal infarction from maternal embolic event due to MTHFR mutation.

Case Description or Program Description: Patient was without significant birth/medical history, hospitalizations, or prior developmental delay and demonstrated acute right-sided weakness, neglect, and dystonia. He was able to spontaneously move all four extremities with the right arm held in an elbow-flexed, pronated position, with ability to open hand, but not grasp. Overall tone was dystonic with mild right-sided spasticity and brisk reflexes. Anterior fontanelle was open and non-bulging. Diagnostic workup was ordered, including ultrasound of head, MRI brain, coagulation panel.

Setting: Outpatient

Assessment/Results: Ultrasound of the head to evaluate the anterior fontanelle demonstrated poorly characterized left lateral parietal lesion. Follow-up MRI brain showed left frontotemporoparietal encephalomalacia suspected secondary to intrauterine or perinatal ischemia/infarction. Coagulation panel demonstrated heterozygous mutation of MTHFR C677T. MTHFR panels were subsequently ordered for the biological parents. The mother demonstrated homozygosity of C677T, known as poor-metabolizer phenotype with highly debated risk of embolic events. Patient continued outpatient therapy with discussion of considering botulinum toxin injections for right upper extremity spasticity after 12 months of age.

Discussion (relevance): There is a well-known association between perinatal arterial stroke and development of hemiplegic cerebral palsy, however the association between homozygous MTHFR C677T polymorphism and embolic events remains unclear. Perinatal strokes are typically multifactorial in origin but workup was only suspicious for maternal embolic formation (placental origin). American College of Obstetricians and Gynecologists do not recommend assessing for MTHFR mutation due to inconclusive data between the polymorphism and perinatal stroke.

Conclusions: There is currently not clear evidence between MTHFR mutations and risk for perinatal stroke, even during pregnancy, although this poses a risk for stroke in neonates. Management of hemiplegic cerebral palsy during infancy includes motor and cognitive development with spasticity and postural control.

Level of Evidence: Level V

« Back to AAPM&R Annual Assembly 2022

PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/manifestations-of-arterial-presumed-perinatal-ischemic-stroke-appis-as-a-suspected-consequence-to-mthfr-mutations-in-pregnancy-a-pediatric-case-report/