The Challenge of Diagnosing Prader-Willi Syndrome in Preterm Infants
DOI:
https://doi.org/10.25753/BirthGrowthMJ.v35.i2.40711Keywords:
extremely premature, infant, muscle hypotonia, Prader-Willi syndrome, uniparental disomyAbstract
Hypotonia is often the only finding in newborns with Prader-Willi syndrome. In the most severe cases, it can mimic a neuromuscular disorder. Early diagnosis and treatment are crucial, as they significantly improve the prognosis. However, the absence of characteristic features in the neonatal period, especially in premature infants, makes diagnosis challenging. Inadequate genetic testing may further delay the diagnosis. We report the case of an extremely preterm girl with Prader-Willi syndrome caused by maternal uniparental disomy, in whom severe neonatal hypotonia was the sole presenting feature. Initial fluorescence in situ hybridization testing failed to detect a deletion. Screening for neuromuscular disorders and inborn errors of metabolism was also negative. At six months of age, characteristic physical features became apparent and she was the diagnosis was established by deoxyribonucleic acid methylation analysis. Through this report, the authors sough to review the clinical aspects and diagnostic testing of Prader-Willi syndrome.
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Copyright (c) 2026 Maria João Palha, Patrícia Dias, Sofia Quintas, Graça Oliveira
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