在一个 31 例结节性硬化症患者的历史队列中，婴儿痉挛的预防是否可行？

Could prevention of infantile spasms have been possible in a historical cohort of 31 tuberous sclerosis patients?

机构信息

University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland, Postal Address: Yliopistonranta 1, FI-70110, Kuopio, Finland.

出版信息

Eur J Paediatr Neurol. 2021 Nov;35:153-157. doi: 10.1016/j.ejpn.2021.10.010. Epub 2021 Oct 29.

DOI:10.1016/j.ejpn.2021.10.010

PMID:34731702

Abstract

UNLABELLED

Efforts to prevent epilepsy in infants with tuberous sclerosis complex (TSC) has been the focus of EPISTOP.

PURPOSE

The present study was carried out to evaluate whether prevention could have been realistic.

METHODS

A retrospective analysis by hospital chart review of 31 patients with TSC and infantile spasms (practically all patients) admitted to two tertiary hospitals, Children's Hospital, University of Helsinki and Kuopio in 1980-2000. Clinical history, early cognitive development, early clinical signs of TSC, clinical signs of suspicious seizures, first seizures and EEG, response to adrenocorticotropic hormone (ACTH) therapy, EEG and brain imaging were evaluated.

RESULTS

Early development prior the spasms was apparently normal in 25 (80%). The first EEG ever performed for a child showed hypsarrhythmia in 16 (51%) or modified hypsarrhythmia in 10 (32%). Treatment lag was short (0-4, mean 2 weeks) and the primary response to ACTH favorable in 19 (64%). Etiological diagnostic workup of IS revealed TSC. In one single case (3%) the diagnosis of TSC could be made at birth due to a congenital cardiac rhabdomyoma. Three other rhabomyomas were diagnosed later. In brain imaging, subependymal periventricular calcifications or hypodense areas were seen in every patient at onset of IS. Other organ manifestations of TSC were retinal phakomas (6), polycystic kidneys (2), and renal angiolipomatosis (1).

CONCLUSIONS

Preventive treatment of epileptic discharges could have been possible in a single case of neonatal rhabdomyoma suggesting that preventive treatment is challenging in everyday practice. The main obstacle is the delay of TSC diagnosis.

摘要

背景

预防结节性硬化症（TSC）婴儿癫痫一直是 EPISTOP 的研究重点。

目的

本研究旨在评估预防措施是否具有现实意义。

方法

对 1980 年至 2000 年期间在赫尔辛基大学儿童医院和库奥皮奥大学附属医院接受治疗的 31 例 TSC 合并婴儿痉挛症（几乎所有患者）的住院病历进行回顾性分析。评估内容包括临床病史、早期认知发育、TSC 早期临床特征、可疑癫痫发作的早期临床症状、首次癫痫发作和脑电图、促肾上腺皮质激素（ACTH）治疗反应、脑电图和脑影像学检查结果。

结果

25 例（80%）患儿痉挛发作前的早期发育明显正常。16 例（51%）患儿首次脑电图检查显示高度失律，10 例（32%）患儿显示改良高度失律。治疗延迟时间较短（0-4 周，平均 2 周），19 例（64%）患儿对 ACTH 治疗反应良好。病因诊断显示 IS 由 TSC 引起。1 例（3%）患儿因先天性心脏横纹肌瘤，出生时即确诊 TSC。另外 3 例患儿随后被诊断为横纹肌瘤。在脑影像学检查中，所有患儿在 IS 发作时均可见室管膜下室周钙化或低密度区。其他 TSC 的器官表现包括视网膜错构瘤（6 例）、多囊肾（2 例）和肾血管脂肪瘤（1 例）。