Perinatal ischemic stroke in an infant with factor VII deficiency: A CARE-compliant case report.

Rationale: Hemophilia, an inherited bleeding disorder, is rarely caused by congenital factor VII (FVII) deficiency, occurring in 1 in 500,000 patients. Oftentimes, the presenting symptom of newborns with congenital FVII deficiency is intracranial hemorrhage, which can lead to adverse neurological outcomes.

Patient Concerns: A 2-day-old male infant, born late preterm, presented with symptoms of coffee-ground emesis, lethargy, and feeding difficulties.

Diagnoses: Computed tomography revealed acute ischemic stroke with hemorrhagic transformation in the territory of the left middle cerebral artery, along with acute subdural hematoma and intraventricular hemorrhage. A few days later, magnetic resonance imaging showed an additional hemorrhagic infarction in the left parietal-occipital lobes. Hematologic testing confirmed FVII deficiency.

Interventions: The patient underwent treatment with recombinant FVII. On the 15th day, following the correction of the bleeding tendency, a ventriculoperitoneal shunt was inserted. An early and comprehensive rehabilitation program was initiated.

Outcomes: The patient exhibits right-sided hemiplegia, visual deficits, and global developmental delays. However, gradual progress has been noted through rehabilitative interventions. Currently, at the age of 44 months, the patient can stand with minimal assistance for 10 minutes, cruise over extended distances, articulate brief phrases, and comply with simple instructions.

Lessons: This case report describes the first documented neonatal case of congenital FVII deficiency associated with simultaneous cerebral infarction and hemorrhage, indicating that FVII deficiency does not protect against thrombosis. Early, comprehensive rehabilitation capitalizes on neuroplasticity, potentially enhancing motor, cognitive, and communicative skills and supporting functional independence in patients with perinatal stroke.