病例报告：患有枫糖浆尿病的蹒跚学步儿童的格雷夫斯病：治疗挑战和手术解决方案
Case Report: Graves' disease in a toddler with maple syrup urine disease: therapeutic challenges and surgical resolution.
摘要(中文译文)
一名已知诊断为枫糖尿病（MSUD）的两年半女童，在进行肝移植评估以实现MSUD的根治性管理期间，出现了难以控制的Graves病。初始低剂量甲巯咪唑未能控制甲状腺功能亢进；逐渐增加剂量后控制改善，但患者出现了肝毒性。减量后甲状腺功能亢进控制不佳，并进一步并发严重中性粒细胞减少，被迫停药。此外，多次MSUD分解代谢危象进一步增加了医疗管理的复杂性。在代谢稳定和术前准备后，计划行甲状腺全切除术。围手术期管理包括卢戈氏碘、氢化可的松和普萘洛尔，但由于碘效应，甲状腺功能亢进在24小时内反常性加重。大剂量氢化可的松使中性粒细胞计数改善；谨慎重新引入低剂量甲巯咪唑并密切监测中性粒细胞绝对计数（ANC），使甲状腺功能亢进得到较好控制。另一个围手术期挑战包括严格限制支链氨基酸和大剂量胰岛素输注以对抗氢化可的松的代谢风险，并在代谢专科医生指导下进行细致的特殊“生病日”管理，以预防神经系统后遗症和代谢危象。经多学科优化后，甲状腺全切除术顺利进行。术后短暂性低钙血症经保守治疗得到控制，并开始左甲状腺素替代治疗。患者数月后成功接受了肝移植。
Abstract
A two-and-a-half-year-old girl with a known diagnosis of Maple Syrup Urine Disease (MSUD) developed challenging Graves' disease while undergoing liver transplant workup for definitive MSUD management. Initial low-dose methimazole failed to control hyperthyroidism; gradual dose escalation resulted in better control; however, the patient developed hepatotoxicity. Dose reduction caused poorly controlled hyperthyroidism, further complicated by severe neutropenia, necessitating discontinuation. In addition, multiple MSUD catabolic crises further complicated the medical management. A total thyroidectomy was planned after metabolic stabilization and preoperative preparation. Perioperative management included Lugol's iodine, hydrocortisone, and propranolol, but hyperthyroidism paradoxically worsened within 24 h due to the iodine effect. Neutrophil count improved with high-dose hydrocortisone; careful reintroduction of low-dose methimazole, with close monitoring of the ANC, resulted in better control of hyperthyroidism. Another perioperative challenge included strict branched-chain amino acid restriction and high-dose insulin infusion to counter hydrocortisone metabolic risk, with careful special "sick days" management guided by a metabolic specialist to prevent neurological sequelae and metabolic crisis. Total thyroidectomy proceeded uneventfully after multidisciplinary optimization. Postoperative transient hypocalcemia was managed conservatively, and levothyroxine replacement was initiated. The patient successfully underwent liver transplantation several months later.
如何引用
AMA
Hebah Ghandora, Mays Khader Alzahrani, Rewa Lutfi Alsharif, Haifa Al Zahrani, Mohammed Al Garni, Hadeel Jambi. Case Report: Graves' disease in a toddler with maple syrup urine disease: therapeutic challenges and surgical resolution.. Frontiers in pediatrics. 2026; doi:10.3389/fped.2026.1803842.
APA
Hebah Ghandora, Mays Khader Alzahrani, Rewa Lutfi Alsharif, Haifa Al Zahrani, Mohammed Al Garni, Hadeel Jambi (2026). Case Report: Graves' disease in a toddler with maple syrup urine disease: therapeutic challenges and surgical resolution.. Frontiers in pediatrics. https://doi.org/10.3389/fped.2026.1803842
GB/T 7714
Hebah Ghandora, Mays Khader Alzahrani, Rewa Lutfi Alsharif, Haifa Al Zahrani, Mohammed Al Garni, Hadeel Jambi. Case Report: Graves' disease in a toddler with maple syrup urine disease: therapeutic challenges and surgical resolution.[J]. Frontiers in pediatrics, 2026 doi:10.3389/fped.2026.1803842.
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