Donohue syndrome in an Egyptian infant: a case report

Abstract Objectives We aim to report a case of Donohue syndrome (DS) which is a rare genetically encoded, autosomal inherited recessive disorder linked with severe insulin-resistant diabetes. Case presentation We hereby report a case of a 4 month -old girl infant with DS. The patient exhibited dysmorphic facial features, severe growth retardation, fasting hypoglycemia, postprandial hyperglycemia, and hyperinsulinemia which are the hallmarks of DS. The diagnosis of DS was confirmed by genetic analysis. The patient was treated with high-dose insulin and frequent nasogastric formula milk feeding to achieve reasonable glycemic control. Conclusions We reported a typical case of DS in a 4-month-old female infant characterized by peculiar dysmorphic features and failure to thrive. She also fulfilled the biochemical criteria of fasting hypoglycemia, postprandial hyperglycemia, and severe hyperinsulinemia. The diagnosis was confirmed by a molecular genetic study. Our patient achieved reasonable glycemic control after treatment with high-dose insulin.

[1]  I. Castilla-Cortázar,et al.  Insulin-like growth factor-1 deficiency and metabolic syndrome , 2016, Journal of Translational Medicine.

[2]  Sarar Mohamed.  An Infant with Leprechaunism, Ambiguous Genitalia and Poor Glycemic Control: A Management Chalenge , 2014 .

[3]  C. Stanley,et al.  Hypertrophic cardiomyopathy in neonates with congenital hyperinsulinism , 2013, Archives of Disease in Childhood: Fetal and Neonatal Edition.

[4]  S. O’Rahilly,et al.  Genetic syndromes of severe insulin resistance. , 2011, Endocrine reviews.

[5]  M. E. El Mouzan,et al.  Consanguinity and major genetic disorders in Saudi children: a community-based cross-sectional study , 2008, Annals of Saudi medicine.

[6]  Simeon I. Taylor,et al.  Clinical Course of Genetic Diseases of the Insulin Receptor (Type A and Rabson-Mendenhall Syndromes): A 30-Year Prospective , 2004, Medicine.

[7]  L. Dimeglio,et al.  Genotype-phenotype correlation in inherited severe insulin resistance. , 2002, Human molecular genetics.

[8]  Simeon I. Taylor,et al.  Genetically defined forms of diabetes in children. , 1999, The Journal of clinical endocrinology and metabolism.

[9]  G. Kosztolányi.  Leprechaunism / Donohue syndrome / insulin receptor gene mutations: a syndrome delineation story from clinicopathological description to molecular understanding , 1997, European Journal of Pediatrics.

[10]  L. Al-Gazali,et al.  A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents. , 1993, Journal of medical genetics.

[11]  S. Nagataki,et al.  Trial of Insulinlike Growth Factor I Therapy for Patients With Extreme Insulin Resistance Syndromes , 1993, Diabetes.

[12]  Choh Hao Li,et al.  Leprechaunism: In Vitro Insulin Action Despite Genetic Insulin Resistance , 1987, Pediatric Research.

[13]  J. Olefsky,et al.  Glucose kinetics in leprechaunism: accelerated fasting due to insulin resistance. , 1980, The Journal of clinical endocrinology and metabolism.