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Leprechaunism. Case report in a black African child.

R G Hartdegen, M Dogliotti, L Rabinowitz

    The British Journal of Dermatology
    |November 1, 1975
    PubMed
    Summary
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    This case study describes leprechaunism, a rare genetic disorder, in a Black child. It is believed to be the first documented instance of this condition in a Black individual.

    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, leading to profound insulin resistance.

    Observation:

    • A case presentation of leprechaunism in a Black infant is detailed.
    • This represents a unique occurrence, potentially the first reported case in a child of Black ethnicity.

    Findings:

    • The case highlights the phenotypic variability and ethnic distribution of leprechaunism.
    • Clinical features observed in this case align with the severe presentation typical of Donohue syndrome.

    Implications:

    • This report expands the understanding of leprechaunism's occurrence across diverse populations.

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  • It underscores the importance of considering rare genetic disorders in pediatric patients regardless of ethnicity.