Saifullah Khalid M, Samanta Snigdha, Ranjan Ankit, Kumar Rajesh
Pediatrics and Neonatology, Rani Hospital and Research Centre, Ranchi, IND.
Neonatology, Postgraduate Institute of Medical Education and Research, Chandigarh, IND.
Cureus. 2024 Nov 25;16(11):e74405. doi: 10.7759/cureus.74405. eCollection 2024 Nov.
Early neonatal seizures have myriad causes and variable prognoses. While acute symptomatic seizures are the most common events, a significant number of cases have a genetic background for such seizures, and a timely diagnosis can help in appropriate management and prognostication. We present a case of a neonate referred to our center with multi-focal clonic seizure starting from the first day of life. Routine metabolic, radiological, and electrographic studies failed to unravel the cause, necessitating whole exome sequencing (WES), which revealed a homozygous deletion of the SLC13A5 gene on chromosome 17. The patient's parents' Sanger sequencing confirmed heterozygous mutation at the same loci, consistent with an autosomal recessive inheritance. This is perhaps among the few case reports of neonatal epilepsy associated with such mutation reported from India; however, the literature on this topic is growing worldwide.
早期新生儿惊厥病因众多，预后各异。虽然急性症状性惊厥是最常见的情况，但相当一部分病例的惊厥有遗传背景，及时诊断有助于进行适当的管理和预后评估。我们报告一例自出生第一天起就出现多灶性阵挛性惊厥的新生儿转诊至我院的病例。常规代谢、影像学和脑电图检查未能明确病因，因此需要进行全外显子组测序（WES），结果显示17号染色体上的SLC13A5基因纯合缺失。患者父母的桑格测序证实了同一基因座的杂合突变，符合常染色体隐性遗传。这可能是印度报道的少数与这种突变相关的新生儿癫痫病例报告之一；然而，全球范围内关于这一主题的文献正在不断增加。
