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Epilepsy in patients with advanced Fukuyama congenital muscular dystrophy
Brain and Development ( IF 1.4 ) Pub Date : 2021-01-01 , DOI: 10.1016/j.braindev.2020.06.017
Ryoko Kuwayama 1 , Yasuhiro Suzuki 2 , Masanori Nishikawa 3 , Tomokazu Kimizu 2 , Ken Nakajima 2 , Tae Ikeda 2 , Yukiko Mogami 2 , Keiko Yanagihara 2
Affiliation  

BACKGROUND Recent advances in respiratory management have improved survival for patients with Fukuyama congenital muscular dystrophy (FCMD), characterized by congenital muscular dystrophy and brain malformation. Previous studies reported that more than half of patients exhibit seizures in childhood. However, little is known about epilepsy after childhood. METHODS To elucidate the long-term clinical course of epilepsy, we retrospectively reviewed all medical records in nine patients (6 males, mean age 20.7 years) with FCMD diagnosed between 1981 and 2019. RESULTS The follow-up periods ranged from 6 to 30 years (mean 18.4 years). A total of 75 EEG recordings were available from nine patients. In some patients, EEGs were normal during early childhood but tended to show paroxysmal discharges with age. Overall, epileptic seizures were observed in six patients. Except for one presenting with afebrile seizure at one year of age, the remaining five patients developed epilepsy between 13 and 22 years of age. The most common seizure type was focal impaired awareness seizure. After adolescence, four patients exhibited status epilepticus. Their convulsive movements of the seizures became less prominent with progression of the disease. At the last evaluation, most patients (5/6) had uncontrolled seizures. CONCLUSIONS Despite presence of distinct brain malformation, epileptic seizures may develop after childhood in FCMD patients. Our experience suggests that clinicians should be careful not to overlook epileptic seizures, especially in advanced-stage patients who had profound muscle weakness.

中文翻译:

福山先天性肌营养不良症晚期患者的癫痫

背景 呼吸管理的最新进展提高了福山先天性肌营养不良症 (FCMD) 患者的生存率,其特征是先天性肌营养不良症和脑畸形。先前的研究报告称,超过一半的患者在儿童时期表现出癫痫发作。然而,人们对儿童期后的癫痫知之甚少。方法 为了阐明癫痫的长期临床病程,我们回顾性地回顾了 1981 年至 2019 年间诊断为 FCMD 的 9 名患者(6 名男性,平均年龄 20.7 岁)的所有医疗记录。结果随访期为 6 至 30 年(平均 18.4 岁)。共有 9 名患者的 75 个 EEG 记录可用。在一些患者中,脑电图在儿童早期是正常的,但随着年龄的增长往往会出现阵发性放电。总体,在 6 名患者中观察到癫痫发作。除了一名在一岁时出现无热性惊厥外,其余 5 名患者在 13 至 22 岁之间发展为癫痫。最常见的癫痫发作类型是局灶性意识障碍癫痫发作。青春期后,四名患者表现出癫痫持续状态。随着疾病的进展,他们癫痫发作的抽搐运动变得不那么明显。在最后一次评估时,大多数患者 (5/6) 的癫痫发作不受控制。结论 尽管存在明显的脑畸形,但 FCMD 患者在儿童期后可能会出现癫痫发作。我们的经验表明,临床医生应注意不要忽视癫痫发作,尤其是对于有严重肌肉无力的晚期患者。除了一名在一岁时出现无热性惊厥外,其余 5 名患者在 13 至 22 岁之间发展为癫痫。最常见的癫痫发作类型是局灶性意识障碍癫痫发作。青春期后,四名患者表现出癫痫持续状态。随着疾病的进展,他们癫痫发作的抽搐运动变得不那么明显。在最后一次评估时,大多数患者 (5/6) 的癫痫发作不受控制。结论 尽管存在明显的脑畸形,但 FCMD 患者在儿童期后可能会出现癫痫发作。我们的经验表明,临床医生应注意不要忽视癫痫发作,尤其是对于有严重肌肉无力的晚期患者。除了一名在一岁时出现无热性惊厥外,其余 5 名患者在 13 至 22 岁之间发展为癫痫。最常见的癫痫发作类型是局灶性意识障碍癫痫发作。青春期后,四名患者表现出癫痫持续状态。随着疾病的进展,他们癫痫发作的抽搐运动变得不那么明显。在最后一次评估时,大多数患者 (5/6) 的癫痫发作不受控制。结论 尽管存在明显的脑畸形,但 FCMD 患者在儿童期后可能会出现癫痫发作。我们的经验表明,临床医生应注意不要忽视癫痫发作,尤其是对于有严重肌肉无力的晚期患者。最常见的癫痫发作类型是局灶性意识障碍癫痫发作。青春期后,四名患者表现出癫痫持续状态。随着疾病的进展,他们癫痫发作的抽搐运动变得不那么明显。在最后一次评估时,大多数患者 (5/6) 的癫痫发作不受控制。结论 尽管存在明显的脑畸形,但 FCMD 患者在儿童期后可能会出现癫痫发作。我们的经验表明,临床医生应注意不要忽视癫痫发作,尤其是对于有严重肌肉无力的晚期患者。最常见的癫痫发作类型是局灶性意识障碍癫痫发作。青春期后,四名患者表现出癫痫持续状态。随着疾病的进展,他们癫痫发作的抽搐运动变得不那么明显。在最后一次评估时,大多数患者 (5/6) 的癫痫发作不受控制。结论 尽管存在明显的脑畸形,但 FCMD 患者在儿童期后可能会出现癫痫发作。我们的经验表明,临床医生应注意不要忽视癫痫发作,尤其是对于有严重肌肉无力的晚期患者。结论 尽管存在明显的脑畸形,但 FCMD 患者在儿童期后可能会出现癫痫发作。我们的经验表明,临床医生应注意不要忽视癫痫发作,尤其是对于有严重肌肉无力的晚期患者。结论 尽管存在明显的脑畸形,但 FCMD 患者在儿童期后可能会出现癫痫发作。我们的经验表明,临床医生应注意不要忽视癫痫发作,尤其是对于有严重肌肉无力的晚期患者。
更新日期:2021-01-01
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