Measuring HC on the third day is more clinically valuable because much of the effects of molding and birth injuries will have subsided in most newborns.
commenced on hydroxychloroquine and requires 3-4LO2 during day and Opti flow 6L/min at night. She gets blue with slightest agitation, precipitous desaturations and accompanying hypoxic attacks. She has marked finger clubbing and tachypnoea but no obvious increased work of breathing/chest deformity.Of note her fist cousin (maternal side) has suspected interstitial lung disease along with Bardet-Biedl, she has CT-changes but no surfactant gene abnormalities. Her maternal grandfather died at 45years with pulmonary fibrosis, also her maternal great grandmother died young with pulmonary fibrosis. Her two half siblings are healthy. Conclusion We report a child with SFTPC mutation with interstitial lung disease.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.