Prader-Willi Syndrome in Newborns – Two Case Reports

Česká verzia

Authors: J. Kršiaková
Authors place of work: Oddelenie lekárskej genetiky MFN, Martin primárka MUDr. J. Kršiaková
Published in the journal: Čes-slov Pediat 2008; 63 (10): 552-556.
Category: Case Report

Summary

Prader-Willi Syndrome (PWS) belongs to rare genetic diseases. PWS is the best known genetic syndrome causing obesity. Clinical manifestation of the disease is complex. Clinical manifestations of the Prader-Willi Syndrome develop and conspicuously change in relation to patient’s age. It is a complex multi-system disease with prominent neonatal hypotonia, delayed psychomotor development low stature, problematic behavior, hyperphagia, a progressing obesity in the course of childhood, hypothalamic hypogonadism and characteristic facial dysmorphia. The disease is cause by the loss of paternal gene expression from chromosomal region 15q11-q13. Incidence of the disease is 1:10,000 to 1:25,000.

Early clinical diagnosis in the newborn in based on incomplete clinical picture. In the newborn period, unexplained severe hypotonia, disorders in food intake, weak or missing sucking reflex represent basic diagnostic criteria.

Key words:
Prader-Willi syndrome, hypotonic syndrome, newborn

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