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Prader-Willi syndrom

Sist oppdatert: Sist revidert:
Sist revidert av:

Definisjon:
Syndrom som skyldes i hovedsak manglende uttrykk av gener på kromosom 15 og karakteriseres ved nevroutviklingsforstyrrelser og hypothalamusdysfunksjon
Forekomst:
Insidensen er ca. 1 per 25 000 fødsler. Dvs. 2-3 barn hvert år i Norge
Symptomer:
Varierer hos den enkelte og endres i løpet av oppveksten. Uttalt hypotoni og spisevansker første levemåneder. Senere økt risiko for overspising og utvikling av tidlig innsettende overvekt. Hypogonadisme. Generelt forsinket utvikling og typiske atferdstrekk. Varierende grad av utviklings­hem­ning eller lære­vansker og et karakteristisk utseende
Funn:
Hypotoni. Ofte lav fødselsvekt. Karakteristiske ansiktstrekk; mandelformede øyne, nedovervendt munn, smal mellom tinningene, skjeling, tynn overleppe. Hypogonadisme
Diagnostikk:
Genetisk undersøkelse vil i de fleste tilfeller gi diagnosen
Behandling:
Støttende. Veksthormon og kjønnshormon for å normalisere pubertet og kjønnsutvikling. Forebygge overvekt. Behandle komorbiditet
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  • Marianne Nordstrøm, klinisk ernæringsfysiolog PhD, Frambu
  • Anne Grethe Myhre, spesialist i pediatri PhD, rådgivende overlege Frambu