Het Prader-Willi-syndroom: Goed om te zien dat je geïnteresseerd bent in onze content. Onafhankelijke informatie is alleen niet gratis. Je mag onze artikelen uitsluitend kopiëren voor persoonlijk gebruik. Zo zal je geen inbreuk maken op onze Algemene Voorwaarden. Vragen? Stuur een e-mail naar: [email protected]. Het belang van vroege herkenning

Translated title of the contribution: The importance of early recognition of Prader-Willi syndrome

Etienne J.M. Janssen, Melanie Burgers, Gerthe F. Kerkhof, Merel Klaassens, Margje Sinnema, Joyce M. Geelen

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Due to its rare nature and subtle dysmorphisms, Prader-Willi syndrome can be challenging to recognize and diagnose in the neonatal period. Feeding difficulties and hypotonia ('floppy infant') are the most striking characteristics. Prader-Willi syndrome requires specific follow-up and treatment, emphasizing the importance of early recognition.We encountered an infant of three months old with severe hypotonia. The hypotonia ameliorated spontaneously over time, although feeding per nasogastric tube was necessary. There were no apparent dysmorphisms. Extensive genetic investigations showed a maternal uniparental disomy of chromosome 15, fitting with Prader-Willi syndrome explaining all symptoms. After excluding contraindications, treatment with growth hormone therapy was started. Parents were educated regarding medical emergencies specific for Prader-Willi syndrome ('medical alerts'). Although Prader-Willi syndrome is rare, it should always be considered in cases of neonatal hypotonia. Early recognition is paramount as specific recommendations and treatment are warranted.

Translated title of the contributionThe importance of early recognition of Prader-Willi syndrome
Original languageDutch
Article numberD7730
JournalNederlands Tijdschrift voor Geneeskunde
Volume168
Publication statusPublished - 8 May 2024

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