[The importance of early recognition of Prader-Willi syndrome]. / Het Prader-Willi-syndroom.
Ned Tijdschr Geneeskd
; 1682024 05 08.
Article
in Nl
| MEDLINE
| ID: mdl-38747584
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Prader-Willi Syndrome
/
Muscle Hypotonia
Limits:
Humans
/
Infant
Language:
Nl
Journal:
Ned Tijdschr Geneeskd
Year:
2024
Document type:
Article