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Leprechaunism in two Turkish patients

A Gürgey¹, S Göğüş, U Saatçi

¹Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.

The Turkish Journal of Pediatrics

|July 1, 1997

Summary

This study details two Leprechaunism cases, highlighting severe hyperglycemia and hyperinsulinemia. Postmortem findings revealed pancreatic islet cell hyperplasia and liver and ovarian abnormalities, common in this rare genetic disorder.

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Area of Science:

Endocrinology
Genetics
Pediatrics

Background:

Leprechaunism, also known as Donohue syndrome, is a rare autosomal recessive disorder characterized by severe insulin resistance.
It presents with a constellation of physical anomalies and metabolic derangements.

Observation:

Two cases of Leprechaunism exhibiting classical features are presented.
The first case demonstrated significant hyperglycemia and severe hyperinsulinemia.
The second case underwent postmortem examination revealing ovarian enlargement with cystic changes, pancreatic islet cell hyperplasia, and hepatic cholestasis with bile duct paucity.

Findings:

The findings underscore the profound metabolic disturbances, including hyperglycemia and hyperinsulinemia, associated with Leprechaunism.
Histopathological examination revealed characteristic organ abnormalities, such as islet cell hyperplasia and ovarian cysts.

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Renal cortical cysts were also noted in one case.

Implications:

These cases highlight the critical role of insulin signaling pathways in development and metabolism.
Understanding the pathophysiology of Leprechaunism can inform research into other forms of severe insulin resistance.
Early diagnosis and management strategies, though challenging, are crucial for affected infants.