A Rare Case of Donohue Syndrome in a Neonate: A Case Report

BACKGROUND AND OBJECTIVE: Donohue syndrome (DS) is an extremely rare and usually fatal inherited disease resulted from mutations in the INSR (Insulin Receptor) gene and delineated by severe insulin resistance with fasting hypoglycemia, postprandial hyperglycemia, and facial dysmorphism. Optimal trea...

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Autores principales:	AR Norouzi, HR Norouzi, F Norouzi, F Jokar Darzi, E Alaee, S Noei Teymoordash
Formato:	article
Lenguaje:	EN FA
Publicado:	Babol University of Medical Sciences 2021
Materias:	leprechaunism donohue syndrome insulin resistance craniofacial abnormalities. Medicine R Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/3b3d161cfc7f4916a6d953897e989138
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spelling	oai:doaj.org-article:3b3d161cfc7f4916a6d953897e9891382021-11-29T07:40:49ZA Rare Case of Donohue Syndrome in a Neonate: A Case Report1561-41072251-7170https://doaj.org/article/3b3d161cfc7f4916a6d953897e9891382021-03-01T00:00:00Zhttp://jbums.org/article-1-9929-en.htmlhttps://doaj.org/toc/1561-4107https://doaj.org/toc/2251-7170BACKGROUND AND OBJECTIVE: Donohue syndrome (DS) is an extremely rare and usually fatal inherited disease resulted from mutations in the INSR (Insulin Receptor) gene and delineated by severe insulin resistance with fasting hypoglycemia, postprandial hyperglycemia, and facial dysmorphism. Optimal treatment of these cases is unclear and most DS cases die during the first two years of life. Herein, we introduce a case of leprechaunism due to the rarity of this syndrome (one case in every four million birth) revealed by clinical and laboratory findings. CASE REPORT: We present a 4-day old boy with an abnormal facial appearance, low birth weight who was admitted to the Neonatal Intensive Care Unit (NICU) due to poor feeding and jaundice. The patient had coarse facies, hypertrichosis, abdominal distention, genitomegaly, and acanthosis nigricans. Laboratory examinations revealed fasting hypoglycemia, postprandial hyperglycemia, and hyperinsulinemia. The diagnosis of Donohue Syndrome was characterized by the combination of dysmorphic features and biochemical results. Supportive care such as normalizing blood glucose and continuous feeding was initiated. He was discharged with good condition several days later but was admitted again at 6 months of age due to sepsis and then died. CONCLUSION: According to the present case report, close monitoring of blood glucose as well as caring to prevent infection and sepsis is recommended.AR NorouziHR NorouziF NorouziF Jokar DarziE AlaeeS Noei TeymoordashBabol University of Medical Sciencesarticleleprechaunismdonohue syndromeinsulin resistancecraniofacial abnormalities.MedicineRMedicine (General)R5-920ENFAMajallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, Vol 23, Iss 1, Pp 275-279 (2021)
institution	DOAJ
collection	DOAJ
language	EN FA
topic	leprechaunism donohue syndrome insulin resistance craniofacial abnormalities. Medicine R Medicine (General) R5-920
spellingShingle	leprechaunism donohue syndrome insulin resistance craniofacial abnormalities. Medicine R Medicine (General) R5-920 AR Norouzi HR Norouzi F Norouzi F Jokar Darzi E Alaee S Noei Teymoordash A Rare Case of Donohue Syndrome in a Neonate: A Case Report
description	BACKGROUND AND OBJECTIVE: Donohue syndrome (DS) is an extremely rare and usually fatal inherited disease resulted from mutations in the INSR (Insulin Receptor) gene and delineated by severe insulin resistance with fasting hypoglycemia, postprandial hyperglycemia, and facial dysmorphism. Optimal treatment of these cases is unclear and most DS cases die during the first two years of life. Herein, we introduce a case of leprechaunism due to the rarity of this syndrome (one case in every four million birth) revealed by clinical and laboratory findings. CASE REPORT: We present a 4-day old boy with an abnormal facial appearance, low birth weight who was admitted to the Neonatal Intensive Care Unit (NICU) due to poor feeding and jaundice. The patient had coarse facies, hypertrichosis, abdominal distention, genitomegaly, and acanthosis nigricans. Laboratory examinations revealed fasting hypoglycemia, postprandial hyperglycemia, and hyperinsulinemia. The diagnosis of Donohue Syndrome was characterized by the combination of dysmorphic features and biochemical results. Supportive care such as normalizing blood glucose and continuous feeding was initiated. He was discharged with good condition several days later but was admitted again at 6 months of age due to sepsis and then died. CONCLUSION: According to the present case report, close monitoring of blood glucose as well as caring to prevent infection and sepsis is recommended.
format	article
author	AR Norouzi HR Norouzi F Norouzi F Jokar Darzi E Alaee S Noei Teymoordash
author_facet	AR Norouzi HR Norouzi F Norouzi F Jokar Darzi E Alaee S Noei Teymoordash
author_sort	AR Norouzi
title	A Rare Case of Donohue Syndrome in a Neonate: A Case Report
title_short	A Rare Case of Donohue Syndrome in a Neonate: A Case Report
title_full	A Rare Case of Donohue Syndrome in a Neonate: A Case Report
title_fullStr	A Rare Case of Donohue Syndrome in a Neonate: A Case Report
title_full_unstemmed	A Rare Case of Donohue Syndrome in a Neonate: A Case Report
title_sort	rare case of donohue syndrome in a neonate: a case report
publisher	Babol University of Medical Sciences
publishDate	2021
url	https://doaj.org/article/3b3d161cfc7f4916a6d953897e989138
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A Rare Case of Donohue Syndrome in a Neonate: A Case Report

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