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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| Format: | Article |
| Language: | English |
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Babol University of Medical Sciences
2021-03-01
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| Series: | Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul |
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| Online Access: | http://jbums.org/article-1-9929-en.html |
| _version_ | 1818840603109097472 |
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| 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 |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-19T04:12:48Z |
| format | Article |
| id | doaj.art-3b3d161cfc7f4916a6d953897e989138 |
| institution | Directory Open Access Journal |
| issn | 1561-4107 2251-7170 |
| language | English |
| last_indexed | 2024-12-19T04:12:48Z |
| publishDate | 2021-03-01 |
| publisher | Babol University of Medical Sciences |
| record_format | Article |
| series | Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul |
| spelling | doaj.art-3b3d161cfc7f4916a6d953897e9891382022-12-21T20:36:23ZengBabol University of Medical SciencesMajallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul1561-41072251-71702021-03-01231275279A Rare Case of Donohue Syndrome in a Neonate: A Case ReportAR Norouzi0HR Norouzi1F Norouzi2F Jokar Darzi3E Alaee4S Noei Teymoordash5 1. Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, I.R.Iran 2. Social Determinants of Health Research Center, Health Research Institute, Babol University of Medical Sciences, Babol, I.R.Iran 3. Department of Midwifery, School of Nursing and Midwifery, Tehran University of Medical Sciences, Tehran, I.R.Iran 4. Department of Internal Medicine, School of Medicine, Babol University of Medical Sciences, Babol, I.R.Iran 5. Children’s and Neonatal Health Research Center, Golestan University of Medical Sciences, Gorgan, I.R.Iran Fellowship of Gastroenter6. Department of Obstetrics & Gynecology, School of Medicine, Iran University of Medical Sciences, Tehran, I.R.Iranology, Social Determinants of Health Research Center, Health Research Institute, Babol University of Medical Sciences, Babol, Iran 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.http://jbums.org/article-1-9929-en.htmlleprechaunismdonohue syndromeinsulin resistancecraniofacial abnormalities. |
| spellingShingle | 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 Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul leprechaunism donohue syndrome insulin resistance craniofacial abnormalities. |
| title | 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_short | 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 |
| topic | leprechaunism donohue syndrome insulin resistance craniofacial abnormalities. |
| url | http://jbums.org/article-1-9929-en.html |
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