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[Cerebral malformations associated with probable intrauterine infection]
M Minamitani1, J Tanaka, M Hasumura
1Division of Neuropathology, Jikei University School of Medicine, Tokyo.
Insights
This autopsy study investigated complex cerebral malformations in a patient with infantile spasms. Findings suggest a polyphasic, intrauterine infectious etiology for diverse brain abnormalities.
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.
Abstract:
An autopsy case with various cerebral malformations was studied and discussed on the pathogenesis. The patient was a 17-year-old female who developed tonic seizures around the age of 1 month and was treated under a diagnosis of infantile spasms. A CT scanning revealed agenesis of corpus callosum, subtentorial arachnoid cyst and brain atrophy. Neuropathologically multiple malformations were observed in the brain, polymicrogyria, pachygyria, cerebral gray matter heterotopia, partial agenesis of corpus callosum, hypoplasia of cerebellar vermis and arachnoid cyst. The most remarkable finding was chronic inflammation represented by infiltration of lymphocytes and foamy macrophages, fibrosis and vascular hyalinization in the arachnoid membrane as well as in the choroid plexus of the third ventricle. Proliferation of astrocytes with intracytoplasmic eosinophilic inclusions was also found in the areas of polymicrogyria and heterotopia. The infratentorial cyst was walled by scarring cerebellar tissue with a focal inflammation which was probably caused by an encephaloclastic process. The diversity in these cerebral malformations suggests that etiology might be polyphasic in time and infectious in nature during the intrauterine period of cerebral development.