Pheochromocytomas and paragangliomas (PHEO/PGL) are rare neuroendocrine tumors in children, yet critical to recognize due to advancements in understanding their underlying causes. These tumors originate from sympathetic and parasympathetic paraganglia and, while uncommon in the pediatric population, necessitate prompt identification and management.
Diagnosis of PHEO/PGL in children often presents unique challenges. Many tumors are functional, leading to symptoms related to excessive catecholamine secretion, such as hypertension, headaches, sweating, and palpitations. Additionally, the physical presence of the tumor can cause mass effects depending on its location. Significantly, an increasing number of pediatric PHEO/PGL cases are now detected through screening programs for genetic syndromes. These syndromes, including multiple endocrine neoplasia type 2 (MEN2), von Hippel-Lindau (VHL) disease, and various paraganglioma syndromes, are strongly associated with an increased risk of developing PHEO/PGL. Therefore, in children with these known genetic predispositions, proactive screening is essential for early detection.
The cornerstone of diagnosing functional PHEO/PGL lies in biochemical testing. Plasma and urine metanephrines are highly sensitive and specific markers for these tumors and represent the best initial diagnostic tests. Elevated levels of metanephrines strongly suggest the presence of a catecholamine-secreting tumor. Once biochemical confirmation is established, imaging studies are crucial to localize the tumor. Furthermore, given the significant association with genetic syndromes, genetic counseling and testing are paramount in all pediatric cases of PHEO/PGL. Identifying an underlying genetic mutation not only has implications for the child’s management but also for family screening and risk assessment.
Management strategies for pediatric PHEO/PGL largely mirror those in adult patients. A multidisciplinary approach is crucial, involving pediatric endocrinologists, surgeons, oncologists, and geneticists, ideally within centers with expertise in managing these rare endocrine neoplasms. While most pediatric PHEO/PGL are benign, the potential for metastasis exists, underscoring the need for long-term surveillance. Unfortunately, curative treatments for metastatic disease are lacking, highlighting the importance of early diagnosis and complete surgical resection when possible.
In conclusion, although PHEO/PGL are infrequent in children, pediatric healthcare providers must maintain vigilance and be equipped to recognize and screen for these tumors, especially in children with predisposing genetic conditions. Optimal care requires a collaborative, multidisciplinary team approach at specialized centers to ensure accurate diagnosis, appropriate treatment, and long-term follow-up for these unique and complex endocrine neoplasms.
