Pediatric Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand 249203, India.
Department of Neurology, IQRAA International Hospital and Research Centre, Kozhikode, Kerala 673009, India.
Seizure. 2023 Aug;110:93-98. doi: 10.1016/j.seizure.2023.06.003. Epub 2023 Jun 5.
Nutritional vitamin B12 deficiency has been shown to cause Infantile epileptic spasms syndrome (IESS) in infants in anecdotal studies.
In this retrospective cohort study, we intended to study the clinical presentation, neurophysiological, laboratory abnormalities, treatment, and neurodevelopmental outcome at 6-months in infants presenting with IESS secondary to nutritional vitamin B12 deficiency (NVBD) and to compare these variables from the rest of the infants with IESS without vitamin B12 deficiency. We included only spasm-free cases or those who showed at least a 50% reduction in spasm frequency on D7 after starting oral/parenteral vitamin B12. We used well-validated measurement tools like the Developmental Assessment Scale for Indian Infants (DASII), Child Feeding Index (CFI), Burden of amplitudes and epileptiform discharges (BASED) score, countable Hypsarrhythmia paroxysm index (cHPI), durational Hypsarrhythmia paroxysm index (dHPI), and Early childhood epilepsy severity scale (E-CHESS) score for documenting these variables.
Data from 162 infants with IESS (21 caused by NVBD) were included in our study. The NVBD group had more patients residing in the rural region, with lower socioeconomic status, vegetarian mothers and poor complementary feeding index (p<0.001 for all). The NVBD group also had less number of patients requiring antiseizure medications (ASMs) and hormonal therapy(p<0.001), remained seizure free at six months (p=0.008), lower number of clusters per day (p=0.02) and the number of spasms per clusters at presentation (p=0.03), lower BASED score (p=0.03) and cHPI, dHPI at presentation (p<0.001). All of them remained spasm-free, with normal electroencephalogram at 6-months. Development quotient at baseline, at 6-months, and improvement in development quotient between these two-time points were more in the vitamin B12 deficiency group (p<0.001). All of them had clinical features of pre-ITS (infantile tremor syndrome) or ITS and it was found to be the only independent predictor of NVBD in infants with IESS. Mothers of all these infants had low serum vitamin B12 levels (<200 pg/ml).
Nutritional vitamin B12 deficiency may cause IESS in infants. Hence, vitamin B12 deficiency needs to be ruled out in patients with IESS without any definite etiology.
在一些个案研究中，营养性维生素 B12 缺乏已被证明可导致婴儿癫痫性痉挛综合征（IESS）。
在这项回顾性队列研究中，我们旨在研究因营养性维生素 B12 缺乏（NVBD）而导致的 IESS 婴儿的临床表现、神经生理学、实验室异常、治疗和 6 个月时的神经发育结局，并将这些变量与其他无维生素 B12 缺乏的 IESS 婴儿进行比较。我们仅纳入痉挛缓解的病例或在开始口服/肠外维生素 B12 后第 7 天痉挛频率至少降低 50%的病例。我们使用了经过充分验证的测量工具，如印度婴儿发育评估量表（DASII）、儿童喂养指数（CFI）、振幅和癫痫样放电负担（BASED）评分、可计数的高度失律性发作指数（cHPI）、持续时间高度失律性发作指数（dHPI）和儿童期癫痫严重程度量表（E-CHESS）评分，以记录这些变量。
本研究纳入了 162 例 IESS 婴儿（21 例由 NVBD 引起）的数据。NVBD 组中更多的患者居住在农村地区，社会经济地位较低，母亲为素食者，补充喂养指数较差（均<0.001）。NVBD 组中需要抗癫痫药物（ASM）和激素治疗的患者较少（均<0.001），6 个月时无癫痫发作（p=0.008），每日发作次数较少（p=0.02），发作簇内发作次数较少（p=0.03），BASED 评分较低（p=0.03），发作簇内的 cHPI 和 dHPI 较低（均<0.001）。所有患儿均保持无痉挛状态，6 个月时脑电图正常。在基线、6 个月时的发育商以及这两个时间点之间的发育商改善方面，维生素 B12 缺乏组更多（均<0.001）。所有患儿均有婴儿震颤综合征（ITS）或婴儿震颤前综合征（ITS）的临床特征，这是 IESS 婴儿中 NVBD 的唯一独立预测因素。所有患儿的母亲均有低血清维生素 B12 水平（<200 pg/ml）。
营养性维生素 B12 缺乏可能导致婴儿发生 IESS。因此，对于无明确病因的 IESS 患者，需要排除维生素 B12 缺乏。
