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Case report: Neonatal diabetes mellitus caused by KCNJ11 mutation presenting with intracranial hemorrhage

Neonatal diabetes mellitus (NDM) is a rare type of monogenic diabetes. At present, most published studies have focused on the types of gene mutations associated with NDM and the therapeutic effect of sulfonylureas (SUs) on the disease; few studies on NDM-associated intracranial hemorrhage (ICH) exis...

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Autores principales: Wu, Bo, Xu, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10022729/
https://www.ncbi.nlm.nih.gov/pubmed/36937531
http://dx.doi.org/10.3389/fneur.2023.1072078
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author Wu, Bo
Xu, Wei
author_facet Wu, Bo
Xu, Wei
author_sort Wu, Bo
collection PubMed
description Neonatal diabetes mellitus (NDM) is a rare type of monogenic diabetes. At present, most published studies have focused on the types of gene mutations associated with NDM and the therapeutic effect of sulfonylureas (SUs) on the disease; few studies on NDM-associated intracranial hemorrhage (ICH) exist. In addition, p.V59M mutations generally lead to intermediate DEND (iDEND: intermediate developmental delay and neonatal diabetes) syndrome without epilepsy. Here, we present a case of a 1-month-old male infant who was diagnosed with NDM caused by a KCNJ11 missense mutation (p.V59M), presenting with cerebral injury. In the early stage of the disease, continuous insulin dose adjustment did not achieve an ideal level of blood glucose. Although blood glucose was subsequently controlled by oral SUs, which were administered after the genetic test result, the patient still displayed epilepsy and developmental delay. In this case report, we present our experience in the treatment of the infant, switching from insulin to oral SUs and we thought that SUs have limited effects on improving the prognosis of neurodevelopmental disturbances in NDM with foci of encephalomalacia. In addition, there may be a relationship between KCNJ11 missense mutations and cerebral injury, and further research must be carried out to confirm these points.
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spelling pubmed-100227292023-03-18 Case report: Neonatal diabetes mellitus caused by KCNJ11 mutation presenting with intracranial hemorrhage Wu, Bo Xu, Wei Front Neurol Neurology Neonatal diabetes mellitus (NDM) is a rare type of monogenic diabetes. At present, most published studies have focused on the types of gene mutations associated with NDM and the therapeutic effect of sulfonylureas (SUs) on the disease; few studies on NDM-associated intracranial hemorrhage (ICH) exist. In addition, p.V59M mutations generally lead to intermediate DEND (iDEND: intermediate developmental delay and neonatal diabetes) syndrome without epilepsy. Here, we present a case of a 1-month-old male infant who was diagnosed with NDM caused by a KCNJ11 missense mutation (p.V59M), presenting with cerebral injury. In the early stage of the disease, continuous insulin dose adjustment did not achieve an ideal level of blood glucose. Although blood glucose was subsequently controlled by oral SUs, which were administered after the genetic test result, the patient still displayed epilepsy and developmental delay. In this case report, we present our experience in the treatment of the infant, switching from insulin to oral SUs and we thought that SUs have limited effects on improving the prognosis of neurodevelopmental disturbances in NDM with foci of encephalomalacia. In addition, there may be a relationship between KCNJ11 missense mutations and cerebral injury, and further research must be carried out to confirm these points. Frontiers Media S.A. 2023-03-03 /pmc/articles/PMC10022729/ /pubmed/36937531 http://dx.doi.org/10.3389/fneur.2023.1072078 Text en Copyright © 2023 Wu and Xu. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neurology
Wu, Bo
Xu, Wei
Case report: Neonatal diabetes mellitus caused by KCNJ11 mutation presenting with intracranial hemorrhage
title Case report: Neonatal diabetes mellitus caused by KCNJ11 mutation presenting with intracranial hemorrhage
title_full Case report: Neonatal diabetes mellitus caused by KCNJ11 mutation presenting with intracranial hemorrhage
title_fullStr Case report: Neonatal diabetes mellitus caused by KCNJ11 mutation presenting with intracranial hemorrhage
title_full_unstemmed Case report: Neonatal diabetes mellitus caused by KCNJ11 mutation presenting with intracranial hemorrhage
title_short Case report: Neonatal diabetes mellitus caused by KCNJ11 mutation presenting with intracranial hemorrhage
title_sort case report: neonatal diabetes mellitus caused by kcnj11 mutation presenting with intracranial hemorrhage
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10022729/
https://www.ncbi.nlm.nih.gov/pubmed/36937531
http://dx.doi.org/10.3389/fneur.2023.1072078
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