Juvenile-onset Hereditary Pheochromocytoma-paraganglioma Syndrome

Chiho Sugisawa; Yosuke Okada; Tadashi Arao; Hiroko Mori; Keiko Nishida; Kazumasa Isobe; Kazuhiro Takekoshi; Yoshiya Tanaka

doi:10.2169/internalmedicine.52.8223

CASE REPORTS

Juvenile-onset Hereditary Pheochromocytoma-paraganglioma Syndrome

Chiho Sugisawa, Yosuke Okada, Tadashi Arao, Hiroko Mori, Keiko Nishida, Kazumasa Isobe, Kazuhiro Takekoshi, Yoshiya Tanaka

Author information

Chiho Sugisawa
The First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
Yosuke Okada
The First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
Tadashi Arao
The First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
Hiroko Mori
The First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
Keiko Nishida
The First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
Kazumasa Isobe
Molecular Clinical Pathology, Graduate School of Comprehensive Human Sciences (Institute of Clinical Medicine), University of Tsukuba, Japan
Kazuhiro Takekoshi
Molecular Clinical Pathology, Graduate School of Comprehensive Human Sciences (Institute of Clinical Medicine), University of Tsukuba, Japan
Yoshiya Tanaka
The First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan

Keywords: hereditary pheochromocytoma-paraganglioma syndrome, SDHB, secondary hypertension, malignant pheochromocytoma

JOURNAL OPEN ACCESS

2013 Volume 52 Issue 2 Pages 281-284

DOI https://doi.org/10.2169/internalmedicine.52.8223

Details

Abstract

It is insufficient to distinguish benign tumors from malignant pheochromocytoma using histological analyses of resected tissue alone. We experienced an 18-year-old woman who complained of severe headaches in whom hypertension was revealed. She was suspected of having a malignant tumor based on her clinical characteristics, despite showing no evidence of metastatic lesions. The patient was diagnosed with an aggressive form of hereditary pheochromocytoma-paraganglioma syndrome (HPPS) based on immunohistochemical analyses and genetic testing. The present case indicates that conducting genetic testing, including SDHB mutation analyses, is required to determine the prognosis in patients highly suspected of having HPPS.

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