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Familial Prader-Willi syndrome

C M Burke, B G Kousseff, M Gleeson

    Archives of Internal Medicine
    |April 1, 1987
    PubMed

    Insights

    Three sisters with Prader-Willi syndrome (PWS) highlight a potential autosomal recessive form of the condition. Early recognition of PWS features is crucial for timely diagnosis and management.

    Area of Science:

    • Genetics
    • Endocrinology
    • Pediatrics

    Background:

    • Prader-Willi syndrome (PWS) is a complex genetic disorder.
    • Typical PWS cases often involve a deletion on chromosome 15q12.
    • Diagnosis can be challenging and is frequently overlooked.

    Observation:

    • Three adult sisters presented with the full spectrum of PWS diagnostic features.
    • Endocrine investigations and ovarian biopsy were conducted.
    • All patients shared HLA genotype A2.

    Findings:

    • Normal high-resolution prometaphase karyotypes suggested genetic heterogeneity.
    • The absence of the common 15q12 deletion pointed towards a possible autosomal recessive inheritance pattern for PWS in this family.
    • This contrasts with the typically sporadic occurrence of PWS.

    Implications:

    • This case suggests that an autosomal recessive form of Prader-Willi syndrome may exist.
    • Increased clinical awareness is vital for prompt diagnosis of PWS.
    • Further research is needed to understand the genetic basis and variations of PWS.

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