Title : Subacute brainstem infarction in an infant with incidental ectopic lymphoid tissue: A case report
Abstract:
Background: Cerebral vascular accidents are rare in infants but represent a critical concern in pediatric orthopedics, particularly when they result in significant musculoskeletal dysfunction or deformities. Brainstem infarctions, contributing to neurovascular injury, account for approximately 10% of all strokes, and these lesions are atypical in neonates. Additionally, ectopic lymphoid tissue in the central nervous system has been linked with autoimmune diseases, but its presence in infants remains uncommon.
Case Presentation: A 2-month-old male infant was found unresponsive in his car seat, requiring resuscitation. Despite intensive care, he passed away four days later. His medical history was significant for neonatal respiratory distress, necessitating two NICU admissions. Metabolic screening suggested a possible carnitine deficiency, although no conclusive metabolic disorder was identified. Imaging studies were unremarkable, and cardiac function was normal on echocardiography. A post-mortem examination revealed hypoxic-ischemic injury to the brainstem, gliosis, and the presence of ectopic lymphoid tissue in the brainstem and medulla. Systemic findings included acute infarction of the spleen, transmural colonic inflammation, focal bronchiolitis, and thymic involution, suggesting an underlying inflammatory process. Genetic testing revealed a heterozygous SLC4A3 gene missense variant of uncertain significance, which was not considered contributory to the cause of death.
Discussion: The presence of ectopic lymphoid tissue in the brainstem, along with inflammation, metabolic irregularities, and vascular compromise, points to a multifactorial etiology. Although the exact pathophysiological mechanisms remain unclear, this case highlights the complexity of neonatal morbidity and mortality, specifically in the context of orthopedic and vascular pathology. This case underscores the importance of thorough post-mortem investigations to determine any contributory factors that may have led to vascular injury or musculoskeletal deformities.
Conclusion: The findings highlight the challenges of diagnosing neonatal stroke and unexplained infant mortality, urging further exploration of multifactorial factors that may contribute to vascular and inflammatory conditions with consequences in neonates.
