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Leprechaunism (Donohue's syndrome): a case report
1Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.
The Turkish Journal of Pediatrics
|October 1, 1993
Summary
Leprechaunism, a rare genetic disorder, presents with distinct physical features and developmental delays. Parental consanguinity suggests a likely recessive inheritance pattern for this condition.
Area of Science:
- Genetics
- Pediatrics
- Endocrinology
Background:
- Leprechaunism, also known as Donohue syndrome, is an extremely rare autosomal recessive disorder characterized by severe insulin receptor abnormalities.
- It is associated with a spectrum of physical anomalies and profound metabolic derangements.
Observation:
- A 3-month-old female infant presented with features consistent with leprechaunism.
- Clinical manifestations included low-birth weight, a distinctive elfin facial appearance with a bulbous nose, hirsutism, prominent low-set ears, enlarged genitalia, abdominal distension with attenuated extremities, and significant growth and motor delays.
Findings:
- The patient exhibited the classic phenotype of leprechaunism.
- Parental consanguinity was noted, which strengthens the hypothesis of a recessive mode of inheritance for this condition.
Implications:
- This case highlights the importance of recognizing the characteristic features of leprechaunism for early diagnosis.
- Understanding the genetic basis, particularly the potential for recessive inheritance in consanguineous families, is crucial for genetic counseling and family planning.