University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Diabetes Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Arch Iran Med. 2024 Aug 1;27(8):447-451. doi: 10.34172/aim.28810.
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 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 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.
本病例报告介绍了一位 10 岁患者，被诊断为 1 型嗜铬细胞瘤/副神经节瘤综合征（PPGL1），其 基因中存在一个新的杂合致病性变异（c.154_161del，p.ser52Profster14）。最初，该患者表现出不同于嗜铬细胞瘤的症状，包括多尿和多饮；然而，进一步的诊断研究发现肾上腺有嗜铬细胞瘤（PCC）肿瘤。随后，外显子组测序（WES）检测发现 基因中的一个致病性移码变异，强烈提示为 PPGL1。本研究强调了在诊断罕见儿科嗜铬细胞瘤/副神经节瘤肿瘤时考虑不典型症状的重要性，并强调了基因检测在确定潜在遗传病因中的价值，从而有助于对该疾病进行个性化管理。
