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Duodenogastric Intussusception in a 14-Week-Old Infant with Donohue Syndrome: Case Study
Corina Ramona Nicolescu1, Clara Cremillieux1, Jean-Louis Stephan1
1Department of Pediatrics, Centre Hospitalier Universitaire, Saint-Etienne, France.
Case Reports in Pediatrics
|October 27, 2023
Summary
Donohue syndrome, a rare genetic disorder causing severe insulin resistance, presents with multiple organ complications. A fatal duodenogastric intussusception case highlights the critical need for understanding its complex pathophysiology.
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Background:
- Donohue syndrome (DS) is a rare, autosomal recessive disorder characterized by severe insulin resistance due to insulin receptor gene defects.
- It presents with intrauterine growth restriction, dysmorphic features, and significant postnatal complications, leading to a short lifespan.
Observation:
- A 14-week-old infant with DS exhibited cardiac, renal, hepatic, pancreatic, and gastrointestinal issues.
- Gastrointestinal manifestations included abdominal distension, feeding difficulties, vomiting, and two instances of intestinal obstruction.
Findings:
- The infant developed duodenogastric intussusception, a previously unreported complication in Donohue syndrome.
- This complication tragically led to the infant's mortality.
Implications:
- This case underscores the severe and varied clinical spectrum of Donohue syndrome.
- Further research into insulin and IGF-1 receptor cross-talk mechanisms may elucidate hyperinsulinemia and associated comorbidities in DS.
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