Gunes Sevinc Odabasi, Calisici Erhan, Arslan Mutluay, Akin Onur, Karagol Belma Saygili
Department of Pediatric Endocrinology, Gulhane Training and Research Hospital, University of Health Sciences, Ankara, Türkiye.
Department of Neonatology, Gulhane Training and Research Hospital, University of Health Sciences, Ankara, Türkiye.
J Pediatr Genet. 2021 Apr 14;12(3):242-245. doi: 10.1055/s-0041-1727175. eCollection 2023 Sep.
Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes, usually occurring in the first 6 months of life. Here, we present a newborn, which was admitted with epileptic seizure on the postnatal second day of life. Sepsis and meningitis were ruled out. Cranial imaging and electroencephalography revealed normal. She developed transient NDM on the follow-up and was diagnosed to carry an mutation. Although the neurological features are more common in patients with mutations, patients with mutations could also represent with subtle neurodevelopmental changes or even with epileptic seizures. The genetic testing and appropriate therapy is important in this patient group for predicting clinical course and possible additional features.
新生儿糖尿病（NDM）是一种单基因形式的糖尿病，通常发生在出生后的前6个月。在此，我们报告一名新生儿，其在出生后第二天因癫痫发作入院。排除了败血症和脑膜炎。头颅影像学检查和脑电图检查均显示正常。随访中她出现了短暂性NDM，并被诊断携带一种突变。虽然该突变的患者神经学特征更为常见，但该突变的患者也可能表现为轻微的神经发育变化甚至癫痫发作。基因检测和适当的治疗对于该患者群体预测临床病程和可能的其他特征很重要。
