Elham Zohrehvand
1 
, Nastaran Injinari
2, Maryam Kiani Feyzabadi
3, Kazem Aghili
4, Farahnaz Ghaemi
5, Reyhaneh Azizi
2* 1 University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
2 Diabetes Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
3 Cellular and Molecular Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran
4 Department of Radiology, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
5 Department of Biology, Kerman Branch, Islamic Azad University, Kerman, Iran
Abstract
This case report presents a 10-year-old patient diagnosed with pheochromocytoma/paraganglioma syndrome type 1 (PPGL1), underlined by a novel heterozygous pathogenic variant (c.154_161del, p.ser52Profster14) in the SDHD gene. Initially, the patient manifested symptoms unusual for pheochromocytoma, including polyuria and polydipsia; however, further diagnostic investigations revealed a pheochromocytoma (PCC) tumor in the adrenal gland. Subsequently, whole exome sequencing (WES) test identified a pathogenic frameshift variant in the SDHD gene, strongly suggestive of PPGL1. This study highlights the importance of considering atypical symptoms in diagnosing rare pediatric pheochromocytoma/paraganglioma tumors and underscores the value of genetic testing in identifying underlying genetic causes, thereby facilitating personalized management of the condition.