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Congenital hyperinsulinism in a newborn presenting with poor feeding

Hyperinsulinemic hypoglycemia is a condition linked to several genetic, metabolic, and growth disorders in which there is dysregulated insulin secretion. In infants, an inappropriately persistent hypoglycemic and hypoketotic state can cause severe brain injury leading to epilepsy, cerebral palsy, an...

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Autores principales: Mazloom, Kiran, Sanchez-Lara, Pedro A, Langston, Seth, Grand, Katheryn, Schweiger, Bahareh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8966065/
https://www.ncbi.nlm.nih.gov/pubmed/35371490
http://dx.doi.org/10.1177/2050313X221083174
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author Mazloom, Kiran
Sanchez-Lara, Pedro A
Langston, Seth
Grand, Katheryn
Schweiger, Bahareh
author_facet Mazloom, Kiran
Sanchez-Lara, Pedro A
Langston, Seth
Grand, Katheryn
Schweiger, Bahareh
author_sort Mazloom, Kiran
collection PubMed
description Hyperinsulinemic hypoglycemia is a condition linked to several genetic, metabolic, and growth disorders in which there is dysregulated insulin secretion. In infants, an inappropriately persistent hypoglycemic and hypoketotic state can cause severe brain injury leading to epilepsy, cerebral palsy, and neurodevelopmental disabilities due to the lack of glucose and ketone substrate to serve as fuel for the developing brain. The most common cause of persistent hypoglycemia in neonates and children has been found to be congenital hyperinsulinism. Here, we report a child with a unique presentation, found to have a novel genetic variant as the underlying cause of hyperinsulinism. This case study highlights the importance of maintaining a broad differential and considering a diagnosis of congenital hyperinsulinism in a baby with poor feeding in the newborn period. Recognizing and treating congenital hyperinsulinism is essential to prevent potential neurological sequelae from recurrent, severe hypoglycemia.
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spelling pubmed-89660652022-03-31 Congenital hyperinsulinism in a newborn presenting with poor feeding Mazloom, Kiran Sanchez-Lara, Pedro A Langston, Seth Grand, Katheryn Schweiger, Bahareh SAGE Open Med Case Rep Case Report Hyperinsulinemic hypoglycemia is a condition linked to several genetic, metabolic, and growth disorders in which there is dysregulated insulin secretion. In infants, an inappropriately persistent hypoglycemic and hypoketotic state can cause severe brain injury leading to epilepsy, cerebral palsy, and neurodevelopmental disabilities due to the lack of glucose and ketone substrate to serve as fuel for the developing brain. The most common cause of persistent hypoglycemia in neonates and children has been found to be congenital hyperinsulinism. Here, we report a child with a unique presentation, found to have a novel genetic variant as the underlying cause of hyperinsulinism. This case study highlights the importance of maintaining a broad differential and considering a diagnosis of congenital hyperinsulinism in a baby with poor feeding in the newborn period. Recognizing and treating congenital hyperinsulinism is essential to prevent potential neurological sequelae from recurrent, severe hypoglycemia. SAGE Publications 2022-03-28 /pmc/articles/PMC8966065/ /pubmed/35371490 http://dx.doi.org/10.1177/2050313X221083174 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Report
Mazloom, Kiran
Sanchez-Lara, Pedro A
Langston, Seth
Grand, Katheryn
Schweiger, Bahareh
Congenital hyperinsulinism in a newborn presenting with poor feeding
title Congenital hyperinsulinism in a newborn presenting with poor feeding
title_full Congenital hyperinsulinism in a newborn presenting with poor feeding
title_fullStr Congenital hyperinsulinism in a newborn presenting with poor feeding
title_full_unstemmed Congenital hyperinsulinism in a newborn presenting with poor feeding
title_short Congenital hyperinsulinism in a newborn presenting with poor feeding
title_sort congenital hyperinsulinism in a newborn presenting with poor feeding
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8966065/
https://www.ncbi.nlm.nih.gov/pubmed/35371490
http://dx.doi.org/10.1177/2050313X221083174
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