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[The importance of early recognition of Prader-Willi syndrome]

Etienne J M Janssen1,2, Melanie Burgers3, Gerthe F Kerkhof4

  • 1Maastricht Universitair Medisch Centrum/MosaKids Kinderziekenhuis, afd. Kindergeneeskunde, Maastricht.

Nederlands Tijdschrift Voor Geneeskunde
|May 15, 2024
PubMed

Insights

Prader-Willi syndrome, a rare genetic disorder, presents challenges in early diagnosis due to subtle signs like hypotonia and feeding issues. Early recognition is crucial for timely intervention and management.

Area of Science:

  • Genetics
  • Pediatrics
  • Neonatology

Background:

  • Prader-Willi syndrome (PWS) is a rare genetic disorder characterized by hypotonia and feeding difficulties in infants.
  • Early diagnosis of PWS is often challenging due to subtle dysmorphisms and overlapping symptoms with other neonatal conditions.
  • Prompt identification is critical for initiating appropriate management and improving patient outcomes.

Observation:

  • A three-month-old infant presented with severe hypotonia, requiring nasogastric tube feeding.
  • The infant exhibited no apparent dysmorphic features.
  • Hypotonia showed spontaneous amelioration over time.

Findings:

  • Genetic investigations revealed maternal uniparental disomy of chromosome 15, confirming the diagnosis of Prader-Willi syndrome.
  • The genetic findings explained the observed clinical symptoms in the infant.
  • Growth hormone therapy was initiated after excluding contraindications.

Implications:

  • This case underscores the importance of considering Prader-Willi syndrome in neonates with unexplained hypotonia, even without distinct dysmorphisms.
  • Early diagnosis and intervention, including growth hormone therapy, can significantly impact the management of Prader-Willi syndrome.
  • Educating parents about PWS-specific medical emergencies is vital for proactive care and timely response.

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