[Donohue syndrome or leprechaunism].

Area of Science:

• Genetics
• Endocrinology
• Pediatrics

Background:

• Donohue syndrome (leprechaunism) is a rare, severe congenital insulin resistance disorder.
• Characterized by growth retardation, dysmorphic features, hyperinsulinism, and hyperandrogenism.
• Metabolic derangements often lead to early mortality within the first year of life.

Observation:

• A case of Donohue syndrome is presented with a novel homozygote mutation in the insulin receptor gene.
• The patient exhibited hypertrophic cardiomyopathy, heart failure, and bronchial compression.
• Clinical deterioration over 5 days preceded death.

Findings:

• The novel mutation in the insulin receptor gene is identified as the likely cause of the severe phenotype.
• Hypertrophic cardiomyopathy and bronchial compression were critical complications.
• Treatment with recombinant insulin-like growth factor 1 (IGF-1) showed no efficacy.

Implications:

• This case highlights the genetic heterogeneity and severe clinical spectrum of Donohue syndrome.
• Understanding the molecular basis of insulin receptor defects is crucial for potential therapeutic strategies.
• Further research into novel treatment modalities for this rare disorder is warranted.