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- Jeroen van Hoorn, Arno Brouwers, Matthias Griese, and Boris Kramer.
- Department of Pediatrics, VieCuri Medical Centre, Venlo, The Netherlands.
- BMJ Case Rep. 2014 Mar 19; 2014.
AbstractThe clinical course and treatment in the first 2.5 years of life of a term-born girl with a severe onset of respiratory symptoms in the neonatal period caused by a p.Cys121Phe/C121F mutation in the gene of surfactant protein C (SFTPC) is described. During the first 9 months of life, she was mechanically ventilated. With methylprednisolone pulse therapy and oral prednisolone, she could eventually gradually be weaned from mechanical ventilation. At the age of 2.5 years, she is in a good clinical condition without any respiratory support and has a normal nutritional status and neurodevelopment. This clinical course with neonatal onset of respiratory insufficiency is remarkable since most patients with SFTPC mutations present with milder respiratory symptoms in the first years of life.
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