Sturla Álvarez Daniela Andrea, Sánchez Marcos Elena, de Lucas Collantes Carmen, Cantarín Extremera Verónica, Soto Insuga Víctor, Aparicio López Cristina
Department of Pediatrics, Hospital Universitario Niño Jesús, Madrid, Spain.
Department of Pediatrics, Hospital Universitario Niño Jesús, Madrid, Spain.
Pediatr Neurol. 2022 May;130:53-59. doi: 10.1016/j.pediatrneurol.2022.03.001. Epub 2022 Mar 12.
Fanconi syndrome (FS) can be of primary or secondary origin. Some cases of FS secondary to the use of sodium valproate (VPA) have been described, mostly in children with severe psychomotor retardation who are fed by feeding device. The objetive of this study was to describe patients treated for this entity in our center, comparing them against the published literature.
Descriptive study of our patients and those found in the literature. Epidemiologic and clinical data were collected.
We describe seven patients (three to 17 years old) with severe psychomotor retardation and undergoing treatment with VPA. Four presented pathologic fractures before the diagnosis of FS, and in three patients the diagnosis was reached due to abnormal laboratory findings. A review of the published cases was carried out and, including our sample, a total of 42 patients were studied: 51.3% were male, and the median age at diagnosis of FS was 6 years. Severe psychomotor retardation was found in 92.8% of patients, 78% carried a feeding device, and 77.5% received treatment with several antiepileptic drugs. The mean duration of VPA treatment was 5.7 years (range 2 to 7.5 years). Fifteen patients (37.5%) had bone complications. The resolution time of FS after discontinuation of drug therapy ranged from two to 19 months (median 4 months).
FS related to VPA is a rare complication, but it should be considered in patients with epilepsy, especially if they have severe psychomotor retardation, are users of feeding devices, and receive other antiepileptic treatments in addition to VPA.
范科尼综合征(FS)可原发或继发。已有一些继发于丙戊酸钠(VPA)使用的FS病例报道,大多发生在使用喂养设备的重度精神运动发育迟缓儿童中。本研究的目的是描述在我们中心接受该疾病治疗的患者,并与已发表的文献进行比较。
对我们的患者以及文献中找到的患者进行描述性研究。收集流行病学和临床数据。
我们描述了7例年龄在3至17岁之间、患有重度精神运动发育迟缓且正在接受VPA治疗的患者。4例在FS诊断前出现病理性骨折,3例因实验室检查结果异常而确诊。对已发表的病例进行了回顾,包括我们的样本,共研究了42例患者:51.3%为男性,FS诊断时的中位年龄为6岁。92.8%的患者存在重度精神运动发育迟缓;78%使用喂养设备;77.5%接受多种抗癫痫药物治疗。VPA治疗的平均时长为5.7年(范围2至7.5年)。15例患者(37.5%)出现骨骼并发症。停药后FS的缓解时间为2至19个月(中位时间4个月)。
与VPA相关的FS是一种罕见的并发症,但对于癫痫患者应予以考虑,尤其是那些有重度精神运动发育迟缓、使用喂养设备且除VPA外还接受其他抗癫痫治疗的患者。