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Malignant paraganglioma associated with succinate dehydrogenase subunit B in an 8-year-old child: the age of first screening?

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Abstract

Several studies have shown that patients with succinate dehydrogenase subunit B (SDHB) mutations have a very high risk for developing malignant paragangliomas. However, there is no consensus of what age screening for paragangliomas should start. We report a case of an 8-year-old white girl with a 3-year history of catecholamine excess-related complaints who was diagnosed with a malignant SDHB-associated mediastinal paraganglioma. The patient presented with intermittent sweating, headache, nausea, vomiting, fatigue and weight loss that had been present since she was 5 years of age. A large posterior mediastinal mass measuring 6.4 cm × 3.1 cm × 4.6 cm was discovered on computed tomography (CT) and magnetic resonance imaging (MRI). Laboratory data included an elevated level of urine normetanephrine of 45,400 μg/g creatinine (upper reference limit 718 μg/g) and elevated level of plasma normetanephrine of 62.4 nmol/l (upper reference limit <0.90 nmol/l). She was diagnosed with a thoracic paraganglioma and subsequently underwent surgical removal of the tumor and two lymph nodes. Histopathologic examination confirmed metastatic paraganglioma. Postoperatively, her blood pressure normalized and plasma normetanephrine levels remained normal. Our patient first presented with paraganglioma-associated signs and symptoms at the young age of 5 years. This case clearly illustrates the need for increased vigilance and screening for paragangliomas in families with SDHB at a younger age than previously thought.

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The authors have nothing to disclose.

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Authors and Affiliations

  1. Reproductive and Adult Endocrinology Program, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA

    Tamara Prodanov, Bas Havekes, Karen T. Adams & Karel Pacak

  2. Department of Endocrinology and Metabolism, Leiden University Medical Center, Leiden, The Netherlands

    Bas Havekes

  3. Division of Medical Genetics, Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, USA

    Katherine L. Nathanson

  4. Section on Medical Neuroendocrinology, Reproductive and Adult Endocrinology Program, NICHD, NIH, Building 10, CRC, 1-East, Room 1-3140, 10 Center Drive, MSC-1109, Bethesda, MD, 20892-1109, USA

    Karel Pacak

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  1. Tamara Prodanov
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  2. Bas Havekes
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  3. Katherine L. Nathanson
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  4. Karen T. Adams
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  5. Karel Pacak
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Correspondence to Karel Pacak.

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Prodanov, T., Havekes, B., Nathanson, K.L. et al. Malignant paraganglioma associated with succinate dehydrogenase subunit B in an 8-year-old child: the age of first screening?. Pediatr Nephrol 24, 1239–1242 (2009). https://doi.org/10.1007/s00467-008-1111-8

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  • DOI: https://doi.org/10.1007/s00467-008-1111-8

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