一名患有I型致死性发育异常且伴有FGFR3突变的婴儿出现乳糜性腹水，存活了五个月。
Chylous Ascites in an Infant with Thanatophoric Dysplasia Type I with FGFR3 Mutation Surviving Five Months.
作者信息
Soo-Kyeong Jeon, Lee Narae, Bae Mi Hye, Han Young Mi, Hee Park Kyung, Byun Shin Yun
机构信息
a Department of Pediatrics , Pusan National University Children's Hospital , Yangsan , Korea.
b Department of Pediatrics , Pusan National University School of Medicine , Busan , Korea.
出版信息
Fetal Pediatr Pathol. 2018 Oct;37(5):363-371. doi: 10.1080/15513815.2018.1504843. Epub 2018 Sep 25.
BACKGROUND
Thanatophoric dysplasia (TD) results from sporadic de novo mutations in the FGFR3 gene. Upon confirming intrauterine diagnosis of this perinatal disease, pregnancy termination is recommended. There is limited information on the natural history of longer-term survivors with type 1 TD.
CASE REPORT
A full-term neonate was confirmed via postnatal genetic testing to have type 1 TD. At 28 days, chylous ascites developed. Medium-chain triglyceride use improved the ascites. Cerebral ventriculomegaly worsened throughout life. Death due to respiratory failure occurred at age 5 months.
CONCLUSION
The chylous ascites in this child with type 1 TD and survival past the neonatal stage suggests that type 1 TD may be accompanied by abnormalities of the lymphatic channels. Moreover, ventriculomegaly can be progressive.
背景
致死性骨发育不全（TD）由FGFR3基因的散发性新生突变引起。在确诊这种围产期疾病的宫内诊断后，建议终止妊娠。关于1型TD长期存活者的自然病史信息有限。
病例报告
一名足月新生儿通过产后基因检测确诊为1型TD。28天时，出现乳糜性腹水。使用中链甘油三酯改善了腹水情况。脑室扩大在其一生中不断恶化。5个月时因呼吸衰竭死亡。
结论
这名患有1型TD且存活至新生儿期后的患儿出现乳糜性腹水，提示1型TD可能伴有淋巴管异常。此外，脑室扩大可能会进展。
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