Vogt Christina, Blaas Harm-Gerd K
Department of Pathology and Medical Genetics, St Olavs Hospital, Trondheim University Hospital, Trondheim, Norway.
Pediatr Dev Pathol. 2013 May-Jun;16(3):160-7. doi: 10.2350/12-09-1253-OA.1. Epub 2013 Jan 16.
The aim of our study was to retrospectively assess morphological findings in thanatophoric dysplasia, particularly, in how many cases were cerebral manifestations with temporal lobe dysplasia identified. We also wanted to register and analyze the proportions between lung, brain, and body weight. Criteria for inclusion were an autopsy performed during the period ranging from 1985 to 2009 with a diagnosis of thanatophoric dysplasia. During a 25-year period 25 cases of thanatophoric dysplasia were registered. Temporal lobe dysplasia was recognized in 52% of the cases, and after 1998 temporal lobe dysplasia was described in all cases. In 19 cases the brain/body weight ratio was increased, and in all cases the lung/body weight ratio was below the corresponding ratio calculated according to standard measurements. In all but one case the ratio of brain to lung weight was increased. This study focuses on morphological findings, stressing the importance of temporal lobe dysplasia in confirming a diagnosis of thanatophoric dysplasia. Lung/body, brain/body, and brain/lung weight ratios confirm macrocephaly and lung hypoplasia, which are constant findings in cases involving thanatophoric dysplasia. Femur and brain morphology inclusive histology remains the ultimate tool for confirmation of this lethal condition, although it has to be seen in a context inclusive of radiological examination.
我们研究的目的是回顾性评估致死性骨发育不全的形态学表现，特别是确定颞叶发育异常的脑表现出现的病例数。我们还希望记录并分析肺、脑与体重之间的比例。纳入标准为1985年至2009年期间进行的诊断为致死性骨发育不全的尸检。在25年期间，共记录了25例致死性骨发育不全病例。52%的病例存在颞叶发育异常，1998年以后的所有病例均有颞叶发育异常的描述。19例病例的脑/体重比升高，所有病例的肺/体重比均低于根据标准测量值计算出的相应比例。除1例病例外，其余所有病例的脑与肺重量之比均升高。本研究聚焦于形态学表现，强调颞叶发育异常在确诊致死性骨发育不全中的重要性。肺/体重、脑/体重和脑/肺重量比证实了巨头畸形和肺发育不全，这是致死性骨发育不全病例中的常见表现。股骨和脑的形态学包括组织学仍是确诊这种致命疾病的最终手段，尽管必须结合放射学检查来看待。
