Chylous Ascites in an Infant with Thanatophoric Dysplasia Type I with FGFR3 Mutation Surviving Five Months

Jeon Soo-kyeongDepartment of Pediatrics, Pusan National University Children’s Hospital, Yangsan,Korea; ;Department of Pediatrics, Pusan National University School of Medicine, Busan, Korea;

Narae LeeDepartment of Pediatrics, Pusan National University Children’s Hospital, Yangsan,Korea; ;Department of Pediatrics, Pusan National University School of Medicine, Busan, Korea;

Mi Hye BaeDepartment of Pediatrics, Pusan National University School of Medicine, Busan, Korea; ;Department of Pediatrics, Pusan National University School of Medicine, Yangsan,Korea

Young Mi HanDepartment of Pediatrics, Pusan National University Children’s Hospital, Yangsan,Korea; ;Department of Pediatrics, Pusan National University School of Medicine, Busan, Korea; Correspondence[email protected]

http://orcid.org/0000-0002-6120-0490

Kyung Hee ParkDepartment of Pediatrics, Pusan National University School of Medicine, Busan, Korea; ;Department of Pediatrics, Pusan National University School of Medicine, Yangsan,Korea

http://orcid.org/0000-0002-1028-4225

Shin Yun ByunDepartment of Pediatrics, Pusan National University Children’s Hospital, Yangsan,Korea; ;Department of Pediatrics, Pusan National University School of Medicine, Busan, Korea;

http://orcid.org/0000-0002-9034-5533

Abstract

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.

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Chylous Ascites in an Infant with Thanatophoric Dysplasia Type I with FGFR3 Mutation Surviving Five Months

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Chylous Ascites in an Infant with Thanatophoric Dysplasia Type I with FGFR3 Mutation Surviving Five Months

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