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Wolman disease in twins.

I Marosvári

    Acta Paediatrica Hungarica
    |January 1, 1985
    PubMed
    Summary

    Early detection of adrenal calcification in newborn twins can indicate Wolman

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    Area of Science:

    • Biochemistry
    • Pediatrics
    • Genetics

    Background:

    • Wolman's disease is a rare, inherited lysosomal storage disorder.
    • It involves the accumulation of triglycerides and cholesterol esters due to acid lipase deficiency.

    Observation:

    • Adrenal calcification was observed in newborn twins at three hours of age.
    • Clinical signs included hepatomegaly, vomiting, and diarrhea.

    Findings:

    • Radiological findings were characteristic of Wolman's disease.
    • The presence of adrenal calcification in neonates is a key diagnostic indicator.

    Implications:

    • Early diagnosis of Wolman's disease is crucial for timely intervention.
    • This case highlights the importance of neonatal screening for rare metabolic disorders.