Iron overload in a teenager with xerocytosis: the importance of nuclear magnetic resonance imaging.

Abstract

To report a case of iron overload secondary to xerocytosis, a rare disease in a teenager, diagnosed, by T2* magnetic resonance imaging. We report the case of a symptomatic patient with xerocytosis, a ferritin level of 350ng/mL and a significant cardiac iron overload. She was diagnosed by T2* magnetic resonance imaging and received chelation therapy Ektacytometric analysis confirmed the diagnosis of hereditary xerocytosis. Subsequent T2* magnetic resonance imaging demonstrated complete resolution of the iron overload in various organs, as a new echocardiography revealed a complete resolution of previous cardiac alterations. The patient remains in chelation therapy. Xerocytosis is a rare autosomal dominant genetic disorder characterized by dehydrated stomatocytosis. The patient may present with intense fatigue and iron overload. We suggest the regular use of T2* magnetic resonance imaging for the diagnosis and control of the response to iron chelation in xerocytosis, and we believe it can be used also in other hemolytic anemia requiring transfusions.

• Authors: Reijâne Alves de Assis, Carolina Kassab, Fernanda Salles Seguro, Fernando Ferreira Costa, Paulo Augusto Achucarro Silveira, John Wood, Nelson Hamerschlak
• Journal: Einstein (Sao Paulo, Brazil) (Einstein (Sao Paulo)) Vol. 11 Issue 4 Pg. 528-32 (Dec 2013) ISSN: 2317-6385 [Electronic] Brazil
• PMID: 24488397 (Publication Type: Case Reports, Journal Article)

Chemical References

• Siderophores
• Deferoxamine

Topics

• Adolescent
• Anemia, Hemolytic, Congenital (complications, diagnosis, drug therapy)
• Chelation Therapy
• Deferoxamine (therapeutic use)
• Female
• Humans
• Hydrops Fetalis (diagnosis, drug therapy)
• Iron Overload (diagnosis, drug therapy, etiology)
• Magnetic Resonance Imaging
• Siderophores (therapeutic use)