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Clinical manifestations of Pacak‐Zhuang syndrome in a male pediatric patient
Author(s) -
Abdallah Adel,
Pappo Alberto,
Reiss Ulrike,
Shulkin Barry L.,
Zhuang Zhengping,
Pacak Karel,
Bahrami Armita
Publication year - 2020
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.28096
Subject(s) - medicine , germline mutation , germline , pediatrics , index case , mutation , pathology , genetics , disease , gene , biology
We report an index case of a male patient who presented with all clinical manifestations of Pacak‐Zhuang syndrome, including early‐age polycythemia, multiple pheochromocytomas/paragangliomas, duodenal somatostatinoma, and ocular findings. Sequencing analysis detected an EPAS1 mutation in all tumors tested, but not in the germline.