Iron overload in a teenager with xerocytosis: the importance of nuclear magnetic resonance imaging.
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.
Reijâne Alves de
RA
Assis
Carolina
C
Kassab
Fernanda Salles
FS
Seguro
Fernando Ferreira
FF
Costa
Paulo Augusto Achucarro
PA
Silveira
John
J
Wood
Nelson
N
Hamerschlak
D000293:Adolescent; D000745:Anemia, Hemolytic, Congenital / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D015913:Chelation Therapy; D003676:Deferoxamine / Q000627:therapeutic use; D005260:Female; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis* / Q000188:drug therapy; D019190:Iron Overload / Q000175:diagnosis* / Q000188:drug therapy / Q000209:etiology; D008279:Magnetic Resonance Imaging; D017262:Siderophores / Q000627:therapeutic use
D017262:Siderophores; D003676:Deferoxamine