Mitochondrial 12S Ribosomal RNA A1555G Mutation Associated with Cardiomyopathy and Hearing Loss following High-Dose Chemotherapy and Repeated Aminoglycoside Exposure - 22/01/14
Doi : 10.1016/j.jpeds.2013.10.024
Anne-Sofie Skou, MD 1, Lisbeth Tranebjærg, MD, PhD 2, 3, Tim Jensen, MD 4, Henrik Hasle, MD, PhD 1, ⁎ 
1 Department of Pediatrics, Aarhus University Hospital Skejby, Aarhus, Denmark
2 Department of Audiology, HS Bispebjerg Hospital, Copenhagen, Denmark
3 Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen, Denmark
4 Department of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen, Denmark
∗Reprint requests: Henrik Hasle, MD, PhD, Professor, Department of Pediatrics, Aarhus University Hospital Skejby, Brendstrupgaardsvej 100, 8200 Aarhus N, Denmark.
Abstract |
A 19-month-old girl with the A1555G mitochondrial mutation in the 12S ribosomal RNA gene and acute myelogenous leukemia developed dilated cardiomyopathy and bilateral sensorineural hearing loss before undergoing allogeneic stem cell transplantation. She had received gentamicin during episodes of febrile neutropenia. Testing for the A1555G mutation is recommended in patients frequently treated with aminoglycosides.
Le texte complet de cet article est disponible en PDF.Keyword : AML, FS, SCT, SNHL
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| The authors declare no conflicts of interest. |
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Vol 164 - N° 2
P. 413-415 - février 2014 Retour au numéro
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