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Abstract

Introduction: This case study presents a comprehensive neuroanatomical and histological analysis of the central nervous system from a 3-year-old donor with a rare complex neurological condition characterized by progressive encephalopathy, Lennox-Gastaut syndrome, micrencephaly, and infantile spasms. Method: This analysis was conducted using a combination of detailed gross dissection and histological examination to assess structural and neuronal abnormalities across multiple brain and spinal cord regions. External and internal analysis of the central nervous system revealed profound developmental and atrophic changes across various brain structures, including absent central sulci, abnormal gyration patterns, and severe cerebellar and cerebral atrophy. Key Findings: Key findings included multilobar polymicrogyria, severe ventriculomegaly, and gray matter nodular heterotopia. Histological examination confirmed these anomalies, revealing cortical dysplasia, neuronal malorientation, abnormal neuronal migration with the presence of multifocal nodular heterotopia, and reduced neuronal maturation, quantity, and density. The hippocampal formation exhibited incomplete rotation, with no signs of hippocampal sclerosis. The cerebellum and brainstem exhibited significant hypotrophy, including severe reduction of the basilar pons and medullary pyramids, consistent with impaired corticospinal tract development. Genetic testing is needed to confirm the molecular etiology underlying these migration defects and neuronal developmental disruptions. Conclusion: This case details the neuroanatomical and histological findings of a rare, complex neurological condition, highlighting structural abnormalities that may underlie conditions like Lennox-Gastaut syndrome and associated developmental defects.

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