[Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis in a two-year-old girl].
Bannayan-Riley-Ruvalcaba syndrome is a rare disease, which is characterized by macrocephaly, benign hamartomas, lipomas, haemangiomas, pigmented maculae, developmental delay and mental retardation. This case report describes how the combination of macrocephaly, hypertelorism, high palate and intestinal polyposis led to the diagnosis of this syndrome in a two year and seven month-old girl. The diagnosis was confirmed by molecular genetic analysis showing deletion of the entire PTEN gene and the majority of the neighbouring gene BMPR1A, which predisposes to juvenile polyposis.
Børneafdelingen, Aarhus Universitetshospital, Aalborg Sygehus, Reberbansgade, 9000 Aalborg, Denmark. vibede@hotmail.com/lodv@rn.dk
Louise Dyrberg
LD
Vibede
Uffe Birk
UB
Jensen
Tine Høg
TH
Sørensen
Lia Mendes
LM
Pedersen
D002675:Child, Preschool; D005260:Female; D005820:Genetic Testing; D006223:Hamartoma Syndrome, Multiple / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007223:Infant; D044483:Intestinal Polyposis / Q000150:complications / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D058627:Megalencephaly / Q000209:etiology / Q000235:genetics / Q000473:pathology; D025202:Molecular Diagnostic Techniques; D009154:Mutation; D009386:Neoplastic Syndromes, Hereditary; D051059:PTEN Phosphohydrolase / Q000235:genetics*
D051059:PTEN Phosphohydrolase