title: Intestinal microvascular malformations and congenital asplenia in an adolescent possibly expanding the phenotype of Ivemark syndrome.
abstract: Intestinal vascular malformations in children and adolescents are rare but must be considered in the differential diagnosis of gastrointestinal bleeding and chronic anemia. We report a 16-year-old girl who developed chronic iron-deficiency anemia due to recurrent bleeding from multiple angiodysplastic lesions of the stomach, duodenum, and jejunum. The cause of blood loss remained unclear for several years while the girl received numerous blood transfusions. Diagnosis was finally established by capsule endoscopy and double-balloon enteroscopy. Treatment was effectively carried out by argon plasma coagulation. Many systemic vascular malformation syndromes are associated with gastrointestinal lesions. However, as no extraintestinal vascular lesions were present in our patient, diagnosis of a known vascular malformation syndrome seemed unlikely. In addition to the microvascular intestinal malformations, we found a familial congenital asplenia without apparent infectious complications. Thus, the reported case possibly constitutes a so far unpublished variant of the Ivemark syndrome without macrovascular malformations but instead with microvascular malformations. We therefore envison that in times of refined diagnostic techniques the phenotype of the Ivemark syndrome might be expanded by including microvascular malformations.
authors.affiliation: Departments of Pediatrics, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany. Christiane.Wuerfel@uniklinikum-dresden.de
authors.forename: Christiane
authors.initials: C
authors.lastname: Würfel
authors.forename: Stefan
authors.initials: S
authors.lastname: Brückner
authors.forename: Daniela E
authors.initials: DE
authors.lastname: Aust
authors.forename: Simon
authors.initials: S
authors.lastname: Straub
authors.forename: Fabian
authors.initials: F
authors.lastname: Hauck
authors.forename: Martin W
authors.initials: MW
authors.lastname: Laass
mesh_terms: D000293:Adolescent; D018798:Anemia, Iron-Deficiency / Q000209:etiology; D016888:Angiodysplasia / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D001706:Biopsy; D004384:Duodenoscopy; D005260:Female; D006471:Gastrointestinal Hemorrhage / Q000209:etiology; D005773:Gastroscopy; D059446:Heterotaxy Syndrome / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007422:Intestines / Q000098:blood supply*; D013270:Stomach / Q000473:pathology