Autopsy case of thanatophoric dysplasia : Observations on the serial sections of the brain

摘要: The neuropathological findings in an autopsy case of thanatophoric dysplasia (TD) with serial sections the brain are described here. This patient was a female infant, born at 33 weeks gestation, who died on day 1. Skeletal anomalies, consisting short limbs, small thorax, ribs, thick cortical vertebral body substance and sternum substance, hypoplastic lungs, were compatible typical phenotypic features TD. weighed 370 g, showing cloverleaf megalencephaly. A computerized 3-D reconstruction technique visualized clearly abnormal deep sulci arranged perpendicular to neuraxis inferior surface temporal lobe, peculiar configurational changes lateral ventricle. In particular, horn showed unusual complex form. Dysgenetic largely located anterior lobe as follows: polymicrogyria; leptomeningeal heterotopia discontinuity subpial basement membrane; serpentine arrangement pyramidal cells cornu ammonis (CA)1 hippocampus; dentate gyrus; hyperplasia amygdaloid body; heterotopic nodules neuroblasts or glioblasts periventricular white matter. Apart from cerebral pia mater fusion two facing sheets sulcus ectopia nerve cells, cerebellar vermis small. observed here indicate that overgrowth lack growth can coexist TD brain, suggesting some interaction(s) between mesenchyme nervous tissue may play role normal differentiation these cell lines.