Intractable Rare Dis Res. 2012;1(2):92-94. (DOI: 10.5582/irdr.2012.v1.2.92)

Asperger's syndrome with unusual cerebral pathology: Case report and literature review.

Liu L, Vo V, Ware M, Xiong Z


A case of Asperger's syndrome with unusual cerebral pathological changes is reported. A 22-year-old male had been having diagnostic Asperger's syndrome since the age of eight and had epilepsy during the past two years. Radiological studies revealed a focal intra-axial cortical and subcortical cerebral lesion with hyper-intensity and non-enhancing contrast in the left frontal lobe. Histological and immunohistochemical studies demonstrated that the lesion consisted of cortical laminar disorganization, neuronal dysmorphism and increased heterotopic neurons in sub-cortical white matter. To our knowledge, this is the first case of Asperger's syndrome with focal cerebral pathological abnormalities rather than minicolumnar changes and the gyrial malformation reported in the literature.

KEYWORDS: Asperger's syndrome, brain, neuropathology

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