Pacak-Zhuang syndrome with EPAS1 p.Pro531Leu somatic variant: one case report and literature review.
Xiazhe Li, Shan Song, Le Wang et al.
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Case in brief
A 4-year-old girl presented with recurrent hypertension, polycythemia and renal hilar masses. Imaging, biochemical testing and genetic analysis of paraffin-embedded tissue confirmed Pacak-Zhuang syndrome with a somatic EPAS1 p.Pro531Leu variant. She underwent three operations for paragangliomas; pathology was positive for CgA, Syn and NSE, with Ki-67 ≤5%. Tumors recurred during follow-up, and her condition improved with oral temozolomide.
What made this case unusual
The syndrome presented in a young child with the combination of recurrent hypertension, polycythemia and renal hilar masses; tumor recurrence followed three operations.
Diagnostic / clinical pearl
In a child with unexplained hypertension and polycythemia, consider Pacak-Zhuang syndrome; imaging, biochemical assessment and genetic testing can help establish the diagnosis.