title: [Gastroparesis in Noonan syndrome].
abstract: We present a case of a 26-year-old female patient with bloating, postprandial nausea and recurrent vomiting after solid food intake. A gastric emptying scintigraphy showed a delayed gastric emptying, defining gastroparesis. Because of her past medical history of short stature and pulmonary stenosis, we initiated genetic counseling where the diagnosis of Noonan syndrome was made. Dietary therapy and medication with domperidone quickly led to relief of the discomfort due to gastroparesis. However, prokinetics are not indicated for long-term therapy, as cardiac arrhythmia may occur. A risk-benefit assessment should be done. There are several novel approaches which need to be further investigated.
authors.affiliation: Klinik für Innere Medizin IV (Gastroenterologie, Hepatologie, Infektiologie), Universitätsklinikum Jena, Germany.
authors.forename: Konstantin G
authors.initials: KG
authors.lastname: Heimrich
authors.affiliation: Klinik für Nuklearmedizin, Universitätsklinikum Jena, Germany.
authors.forename: Falk
authors.initials: F
authors.lastname: Gühne
authors.affiliation: Praxis für Humangenetik, Zentrum für ambulante Medizin, Universitätsklinikum Jena, Germany.
authors.forename: Solveig
authors.initials: S
authors.lastname: Schulz
authors.affiliation: Klinik für Innere Medizin IV (Gastroenterologie, Hepatologie, Infektiologie), Universitätsklinikum Jena, Germany.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Mutschke
authors.affiliation: Klinik für Innere Medizin IV (Gastroenterologie, Hepatologie, Infektiologie), Universitätsklinikum Jena, Germany.
authors.forename: Andreas
authors.initials: A
authors.lastname: Stallmach
authors.affiliation: Klinik für Innere Medizin IV (Gastroenterologie, Hepatologie, Infektiologie), Universitätsklinikum Jena, Germany.
authors.forename: Jessica
authors.initials: J
authors.lastname: Rüddel
mesh_terms: D000328:Adult; D000932:Antiemetics / Q000627:therapeutic use; D003131:Combined Modality Therapy; D003937:Diagnosis, Differential; D004035:Diet Therapy; D004294:Domperidone / Q000627:therapeutic use*; D005260:Female; D018589:Gastroparesis / Q000175:diagnosis* / Q000628:therapy*; D006801:Humans; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000628:therapy*; D016896:Treatment Outcome
chemical_list: D000932:Antiemetics; D004294:Domperidone