Prenatal or Perinatal Injury? Diagnosing the Cortically Blind Infant

Mai-Lan Ho1, Sasha A Mansukhani2, Michael C Brodsky3

  • 1Department of Radiology, Nationwide Children's Hospital, Columbus, Ohio, USA.

Insights

Prenatal brain malformations, not perinatal distress, often cause cortical visual impairment (CVI). Neuroimaging is crucial for diagnosing CVI by identifying prenatal brain injury and guiding management.

Area of Science:

  • Neuroscience
  • Pediatric Ophthalmology
  • Developmental Neurology

Background:

  • Cortical visual impairment (CVI) is a leading cause of childhood visual impairment.
  • The etiology of CVI is often complex, with both prenatal and perinatal factors implicated.
  • Understanding the timing and nature of brain injury is critical for diagnosis and management.

Observation:

  • This study reviewed eight children with severe CVI and a history of perinatal events.
  • Neuroimaging (MR imaging) and clinical data were analyzed to determine the timing of central nervous system (CNS) injury.
  • Key outcome measures included perinatal history, visual and neurological findings, and MR imaging results.

Findings:

  • MR imaging revealed signs of cortical dysgenesis and congenital brain malformations, such as polymicrogyria, indicating prenatal CNS injury.
  • Subcortical white matter changes were frequently observed.
  • Absence of watershed injury in the visual cortex suggested a prenatal origin of visual loss, potentially with secondary birth complications.

Implications:

  • A history of perinatal distress in children with CVI may be nonspecific.
  • Prenatal brain dysgenesis can contribute to CVI, highlighting the importance of neuroimaging.
  • Identifying antecedent brain malformations and the timing of injury through neuroimaging is essential for accurate diagnosis and effective patient management.
Abstract