[Cerebral malformations associated with probable intrauterine infection]

Area of Science:

• Neuropathology
• Developmental Neuroscience
• Pediatric Neurology

Background:

• A 17-year-old female presented with a history of infantile spasms and tonic seizures since 1 month of age.
• CT imaging revealed agenesis of the corpus callosum, a subtentorial arachnoid cyst, and brain atrophy.

Observation:

• Neuropathological examination identified multiple cerebral malformations including polymicrogyria, pachygyria, gray matter heterotopia, partial agenesis of the corpus callosum, cerebellar vermis hypoplasia, and an arachnoid cyst.
• Chronic inflammation, characterized by lymphocyte and foamy macrophage infiltration, fibrosis, and vascular hyalinization, was noted in the arachnoid membrane and choroid plexus.
• Astrocyte proliferation with intracytoplasmic eosinophilic inclusions was observed in polymicrogyric and heterotopic areas.

Findings:

• The infratentorial cyst was bordered by scarred cerebellar tissue with focal inflammation, indicative of an encephaloclastic process.
• The diverse range of malformations points towards a complex, potentially polyphasic etiology.
• Evidence of chronic inflammation and specific cellular changes suggests an infectious or inflammatory insult during early cerebral development.

Implications:

• Understanding the pathogenesis of complex cerebral malformations is crucial for accurate diagnosis and prognosis.
• The findings support the hypothesis of intrauterine infectious or inflammatory events contributing to diverse neurodevelopmental disorders.
• Further research into polyphasic etiologies of congenital brain malformations is warranted.