Jeon Soo-Kyeong1,2, Narae Lee1,2, Mi Hye Bae2,3, Young Mi Han1,2, Kyung Hee Park2,3, Shin Yun Byun1,2. 1. a Department of Pediatrics , Pusan National University Children's Hospital , Yangsan , Korea. 2. b Department of Pediatrics , Pusan National University School of Medicine , Busan , Korea. 3. c Department of Pediatrics , Pusan National University School of Medicine , Yangsan , Korea.
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.
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.
Authors: Ricki S Carroll; Angela L Duker; Andrea J Schelhaas; Mary Ellen Little; Elissa G Miller; Michael B Bober Journal: Palliat Med Rep Date: 2020-05-14