早发性甲状腺髓样癌、晚期嗜铬细胞瘤和非特异性内分泌外特征（活动过度和持续性便秘）是 2B 型多发性内分泌肿瘤 (MEN2B) 临床表型的一部分。通常会鉴定转染原癌基因期间重排的从头致病性 M918T 变异。在考虑诊断 MEN2B 之前，受影响的儿童通常会经过很长一段时间接受多名临床医生的诊治，而转移性甲状腺髓样癌往往是诱因。我们描述了 1989 年至 2021 年间在澳大利亚新南威尔士州和澳大利亚首都地区最终诊断出患有 MEN2B 的 5 名儿童的临床表现和病程。所有病例均患有肠神经节神经瘤病，这可能有助于早期诊断。针对罕见疾病的全人群新生儿基因组筛查即将到来。我们建议将 MEN2B 基因组筛查纳入新生儿筛查计划，并仔细排除肠神经节神经瘤病，以便更早识别，从而改善临床结果。版权所有 © 2024 美国儿科学会。

Early onset medullary thyroid carcinoma, later pheochromocytomas, and nonspecific extra-endocrine features (hypermobility and persistent constipation) are part of the clinical phenotype of Multiple Endocrine Neoplasia type 2B (MEN2B). A de novo pathogenic M918T variant in the rearranged during transfection proto-oncogene is usually identified. Affected children are often seen by multiple clinicians over a long period before consideration of a diagnosis of MEN2B, with metastatic medullary thyroid carcinoma often the precipitator. We describe the clinical presentation and course of 5 children ultimately diagnosed with MEN2B in New South Wales and the Australian Capital Territory, Australia between 1989 and 2021. All cases had intestinal ganglioneuromatosis that could have prompted an earlier diagnosis. Population wide newborn genomic screening for rare diseases is on the horizon. We propose that MEN2B genomic screening should be included in newborn screening programs and that careful exclusion of intestinal ganglioneuromatosis would allow earlier identification leading to improved clinical outcomes.Copyright © 2024 by the American Academy of Pediatrics.