An Overlooked Manifestation of Hypercortisolism: Cerebral Cortical Atrophy and Challenges in Identifying the Etiology of Hypercortisolism - A Report of 2 Pediatric Cases.

IF 2.6 3区 医学 Q3 ENDOCRINOLOGY & METABOLISM
Hormone Research in Paediatrics Pub Date : 2024-01-01 Epub Date: 2023-03-27 DOI:10.1159/000530391
Elif Eviz, Gul Yesiltepe Mutlu, Ayfer Arduc Akcay, Fatih Erbey, Tulay Guran, Sukru Hatun
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Abstract

Introduction: Endogenous Cushing's syndrome (CS) is a rare, severe disease that can cause multiple systemic involvements and behavioral problems due to excessive cortisol production. Structural changes can be noted in the brain magnetic resonance imaging (MRI) scans of these cases.

Cases: A 9-year-old girl and a 13-year-old boy were admitted with hypercortisolism. In the female patient, altered consciousness was prominent along with cerebral and cerebellar brain atrophy, and findings indicating posterior reversible encephalopathy syndrome were detected in the brain MRI. Although the male patient's neurological examination was normal, significant cerebral atrophy was seen in the brain MRI. Case 1 was diagnosed as having ectopic ACTH syndrome (EAS) due to a thymic carcinoid tumor. Case 2 underwent a pulmonary lobectomy upon detection of a bronchial lesion in the Ga-68 DOTATATE PET/CT scan while being examined for EAS due to a lack of suppression in the high-dose dexamethasone suppression test. However, hypercortisolism persisted despite the removal of the bronchial lesion, and subsequently, a diagnosis of Cushing's disease was established following bilateral inferior petrosal sinus sampling.

Discussion: Endogenous hypercortisolism may cause brain atrophy of varying severity. The central nervous system findings can be overlooked in children with CS. More comprehensive studies are needed to better understand the behavioral changes caused by the effects on the brain and to evaluate whether these changes are reversible. In addition, identifying the source of hypercortisolism can be difficult due to a lack of experience related to the rarity of the disease in children.

被忽视的高皮质醇症表现:脑皮质萎缩和确定高皮质醇血症病因的挑战--两例儿科病例的报告。
简介内源性库欣综合征(CS)是一种罕见的严重疾病,由于皮质醇分泌过多,可导致多种系统性疾病和行为问题。这些病例的脑磁共振成像(MRI)扫描可发现结构性改变:一名 9 岁女孩和一名 13 岁男孩因皮质醇过多症入院。女患者突出表现为意识改变、大脑萎缩和小脑萎缩,脑部磁共振成像结果显示其患有后可逆性脑病综合征。虽然男性患者的神经系统检查正常,但在脑部核磁共振成像中却发现了明显的脑萎缩。病例 1 被诊断为胸腺类癌引起的异位 ACTH 综合征(EAS)。病例 2 在接受 EAS 检查时,由于大剂量地塞米松抑制试验缺乏抑制,在 Ga-68 DOTATATE PET/CT 扫描中发现支气管病变,因此接受了肺叶切除术。然而,尽管切除了支气管病变,但高皮质醇症仍然存在,随后,经过双侧下额窦取样,库欣病的诊断得以确立:讨论:内源性皮质醇分泌过多可能导致不同程度的脑萎缩。讨论:内源性皮质醇分泌过多可能会导致不同程度的脑萎缩,CS患儿的中枢神经系统表现可能会被忽视。需要进行更全面的研究,以更好地了解大脑受影响后引起的行为变化,并评估这些变化是否可逆。此外,由于这种疾病在儿童中非常罕见,缺乏经验,因此很难确定皮质醇过多症的来源。
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来源期刊
Hormone Research in Paediatrics
Hormone Research in Paediatrics ENDOCRINOLOGY & METABOLISM-PEDIATRICS
CiteScore
4.90
自引率
6.20%
发文量
88
审稿时长
4-8 weeks
期刊介绍: The mission of ''Hormone Research in Paediatrics'' is to improve the care of children with endocrine disorders by promoting basic and clinical knowledge. The journal facilitates the dissemination of information through original papers, mini reviews, clinical guidelines and papers on novel insights from clinical practice. Periodic editorials from outstanding paediatric endocrinologists address the main published novelties by critically reviewing the major strengths and weaknesses of the studies.
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