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

Abstract

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.