An autopsy case presenting repetitive hypoglycemia and unique cortical dysplasia

Abstract

In epileptic patients, focal cortical dysplasia (FCD) is pathologically characterized by irregular cortical lamination, blurring of the grey and white matter border and the occurrence of dysplastic cells in the cerebral cortex. Here, we report the case of a 42-year-old male showing developmental delay, transient repetition of hypoglycemic attack and cortical dysplasia, partly mimicking FCD. He had no family history of neurological disorders. He had never been able to stand independently and had always been unable to speak. He developed generalized convulsion in infancy, and then, in the absence of predisposing factors, suffered from repetitive hypoglycemic attacks between the ages of 27 and 38. Various endocrine tests, abdominal CT and brain MRI failed to demonstrate abnormalities. He died of peritonitis. At autopsy, no changes were observed in the pancreas, liver, kidneys, endocrine organs or hypothalamus. In the insular and frontal cortices, many large bizarre cells in the deep layer were observed and perivascular oligodendrocyte satellitosis was present in the adjacent white matter. Unlike FCD, the cortical lamination and the grey-white matter interface were preserved. A well-demarcated pilocytic astrocytoma was present in the brainstem. The cortical dysplasia, consisting of the diffuse occurrence of bizarre cells and the preservation of cortical lamination, is unique and has not been previously reported. Repetition of hypoglycemic attacks within a certain period is also noteworthy, although the relationship of this with the cortical dysplasia is unknown.