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J Pediatr Genet 2023; 12(03): 242-245
DOI: 10.1055/s-0041-1727175
Case Based Review

Transient Neonatal Diabetes Mellitus and Seizure with an Unknown Etiology

Sevinc Odabasi Gunes
1   Department of Pediatric Endocrinology, Gulhane Training and Research Hospital, University of Health Sciences, Ankara, Türkiye
,
Erhan Calisici
2   Department of Neonatology, Gulhane Training and Research Hospital, University of Health Sciences, Ankara, Türkiye
,
Mutluay Arslan
3   Department of Pediatric Neurology, Gulhane Training and Research Hospital, University of Health Sciences, Ankara, Türkiye
,
Onur Akin
1   Department of Pediatric Endocrinology, Gulhane Training and Research Hospital, University of Health Sciences, Ankara, Türkiye
,
Belma Saygili Karagol
2   Department of Neonatology, Gulhane Training and Research Hospital, University of Health Sciences, Ankara, Türkiye
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Abstract

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.

Keywords

neonatal diabetes mellitus - ABCC8 - seizure


Publikationsverlauf

Eingereicht: 21. Dezember 2020

Angenommen: 11. Februar 2021

Artikel online veröffentlicht:
14. April 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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