Case Reports in Pediatrics · 3 authors, 1 centre
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This case report describes a 14-week-old infant with Donohue syndrome who developed a previously unreported complication of duodenogastric intussusception, which contributed to the patient's death alongside severe hypertrophic cardiomyopathy.
The patient exhibited classic DS features, including severe hyperinsulinemia and multi-organ dysfunction (cardiac, renal, hepatic, pancreatic, gastrointestinal). The gastrointestinal presentation began in the first week of life with feeding difficulties, vomiting, and abdominal distension, culminating in two episodes of intestinal obstruction. The patient's fatal outcome was attributed to the severity of this gastrointestinal complication in the context of progressive hypertrophic cardiomyopathy. The discussion links the clinical phenotype to the molecular pathophysiology of insulin/IGF-1 receptor cross-talk. Limitations include the single-case nature of the report and the inability to determine if the fatal evolution was the natural disease progression or related to recombinant human IGF-1 therapy.
