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患有结节性硬化症的兄弟姐妹面临各种表现和严重并发症的挑战。

Challenges of siblings with tuberous sclerosis showing various manifestations and severe complications.

作者信息

Purbasari Utami, Prihartono Nurhayati Adnan, Helda N, Audita Fatira Ratri, Dharmawan Bobby S

机构信息

Department of Radiology, Fatmawati General Hospital, Jl. RS. Fatmawati Raya, Num4, RT.4/RW.9, West Cilandak, District Cilandak, South Jakarta, Special Capital District of Jakarta. Postal Code: 12430.

Faculty of Public Health, University of Indonesia, Jl. Lingkar Kampus Raya Universitas Indonesia, Depok, West Java Postal Code: 16424.

出版信息

Radiol Case Rep. 2024 Apr 5;19(6):2566-2573. doi: 10.1016/j.radcr.2024.03.002. eCollection 2024 Jun.

DOI:10.1016/j.radcr.2024.03.002
PMID:38596180
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11001616/
Abstract

Tuberous Sclerosis Complex (TSC) is a rare genetic disorder that primarily affects the central nervous system and various body organs. This case series describes the case history of 2 siblings from the same parents who were diagnosed with TSC. Case 1 is a 13-year-old girl with bilateral renal AML (angiomyolipoma), multiple fat nodules in the liver, and subependymal nodules with tubers revealed in the brain magnetic resonance imaging (MRI). Case 2 is her brother, a 6-year-old boy, who presented with manifestations of subependymal giant cell astrocytoma (SEGA) and renal AML. TSC must be managed with early diagnosis and intervention due to the risk of hamartoma enlargement. These 2 cases found in siblings underline the varied clinical presentations of TSC and the complexities faced by families with TSC. Early diagnosis is important to avoid TSC-related complications because, as time goes by, the disease will impact the patient's quality of life and increase morbidity and mortality. This case series also highlights the advantages of dermatological screening for the early detection of TSC, family screening, the need for multiple imaging modalities and counseling of family members with TSC, as well as the need for ongoing follow-up of this rare disorder.

摘要

结节性硬化症(TSC)是一种罕见的遗传性疾病,主要影响中枢神经系统和身体各个器官。本病例系列描述了来自同一对父母的2名兄弟姐妹被诊断为TSC的病史。病例1是一名13岁女孩,患有双侧肾血管平滑肌脂肪瘤(AML)、肝脏多发脂肪结节,脑部磁共振成像(MRI)显示室管膜下结节伴结节。病例2是她的弟弟,一名6岁男孩,表现为室管膜下巨细胞星形细胞瘤(SEGA)和肾AML。由于错构瘤增大的风险,TSC必须通过早期诊断和干预进行管理。在兄弟姐妹中发现的这2例病例突显了TSC多样的临床表现以及TSC家庭所面临的复杂性。早期诊断对于避免TSC相关并发症很重要,因为随着时间的推移,该疾病会影响患者的生活质量并增加发病率和死亡率。本病例系列还强调了皮肤筛查对于早期发现TSC的优势、家庭筛查、使用多种成像方式的必要性以及对TSC家庭成员的咨询,以及对这种罕见疾病进行持续随访的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b87/11001616/de64baaa0565/gr9.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b87/11001616/1ac7a57f35fa/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b87/11001616/89a8777ceee2/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b87/11001616/c32c8fd65482/gr3.jpg
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本文引用的文献

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Prenatal diagnosis of tuberous sclerosis complex: Echocardiography, cranial magnetic resonance, and genetic testing of 40 cases with fetal cardiac tumors.结节性硬化症复合体的产前诊断:40例胎儿心脏肿瘤病例的超声心动图、头颅磁共振成像及基因检测
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