Elnaggar Ahmed Mahmoud, Dattani Mehul, Gan Hoong-Wei, Storr Helen L, Drake William M, Dorward Neil, Grieve Joan, Aquilina Kristian
Department of Neurosurgery, Great Ormond Street Hospital, London, UK.
Department of Endocrinology, Great Ormond Street Hospital, London, UK.
Childs Nerv Syst. 2025 Sep 25;41(1):293. doi: 10.1007/s00381-025-06952-9.
To review our institutional experience of paediatric Cushing's disease (CD) over the last 15 years to determine outcomes and complications.
We reviewed clinical details, neuroradiology and outcomes of all children who underwent surgery for CD in our institution between 2006 and 2023.
25 children (14F) age 5-16 years (mean 11.8) underwent surgery for CD. 18 were pre-pubertal at diagnosis. Duration of symptoms to diagnosis was 2 months - 9 years (2.1 years). 70% percent had growth failure. Mean morning, sleeping midnight and 24-h urinary cortisol concentrations were 593, 476 and 652 nmol/L respectively. Inferior petrosal sinus sampling confirmed central ACTH secretion in all cases. MRI revealed an adenoma in 18 children (2.6 - 7 mm diameter). Microscopic and endoscopic transsphenoidal surgery (TSS) was performed in 14 and 11 respectively. Biochemical remission was achieved in 19 patients (76%) after TSS. There was no difference between the two operative approaches. Six failures were treated with revisional surgery (3), radiotherapy (2) or metyrapone / ketoconazole (1). Six children had transient diabetes insipidus post-operatively. CSF rhinorrhoea occurred in three cases and was managed successfully by a lumbar drain.
CD in children is almost always diagnosed late despite established signs and symptoms, including weight gain and growth failure. TSS is as effective as in adults. A multidisciplinary team is crucial to the safe and effective management of these children.
回顾我院过去15年小儿库欣病（CD）的诊疗经验，以确定治疗结果及并发症情况。
我们回顾了2006年至2023年间在我院接受CD手术治疗的所有儿童的临床细节、神经放射学检查结果及治疗结果。
25名年龄在5至16岁（平均11.8岁）的儿童（14名女性）接受了CD手术。18名在诊断时为青春期前。从出现症状到确诊的时间为2个月至9年（平均2.1年）。70%的患儿存在生长发育迟缓。平均清晨、午夜睡眠及24小时尿皮质醇浓度分别为593、476和652nmol/L。岩下窦采血证实所有病例均为中枢性促肾上腺皮质激素分泌。MRI显示18名儿童有腺瘤（直径2.6至7mm）。分别有14名和11名儿童接受了显微镜下和内镜下经蝶窦手术（TSS）。TSS术后19例（76%）实现了生化缓解。两种手术方式之间无差异。6例治疗失败的患儿接受了翻修手术（3例）、放疗（2例）或甲吡酮/酮康唑治疗（1例）。6名儿童术后出现短暂性尿崩症。3例发生脑脊液鼻漏，通过腰大池引流成功处理。
尽管有体重增加和生长发育迟缓等既定的体征和症状，但儿童CD几乎总是在晚期才被诊断出来。TSS在儿童中的效果与成人相同。多学科团队对于这些儿童的安全有效管理至关重要。
