病因不明的新生儿短暂性糖尿病和癫痫发作。

IF 0.4 Q4 PEDIATRICS
Sevinc Odabasi Gunes, Erhan Calisici, Mutluay Arslan, Onur Akin, Belma Saygili Karagol
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引用次数: 2

摘要

新生儿糖尿病(NDM)是一种单基因型糖尿病,通常发生在生命的前6个月。在这里,我们提出一个新生儿,这是入院与癫痫发作在出生后的第二天的生活。败血症和脑膜炎已被排除。颅脑显像及脑电图显示正常。她在随访中出现了短暂性NDM,并被诊断为携带ABCC8突变。尽管这些神经学特征在kcnn11突变患者中更为常见,但ABCC8突变患者也可能表现为微妙的神经发育变化,甚至癫痫发作。基因检测和适当的治疗对于预测临床过程和可能的其他特征是重要的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Transient Neonatal Diabetes Mellitus and Seizure with an Unknown Etiology.

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 ABCC8 mutation. Although the neurological features are more common in patients with KCJN11 mutations, patients with ABCC8 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.

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来源期刊
自引率
0.00%
发文量
32
期刊介绍: The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.
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