Soysal, Y.Acun, T.Lourenço, C.M.Marques Jr. W.Yakicier, M.C.2016-02-082016-02-08201213110160http://hdl.handle.net/11693/21650Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare autosomal, dominantly-inherited, hamartoma syndrome with distinct phenotypic features. Mutations in the PTEN gene have been identified in PTEN hamartoma tumor syndromes. Our aim was to determine the correlation of phenotype-genotype relationships in a BRRS case. We have evaluated a PTEN mutation in a patient with vascular anomalies and the phenotypic findings of BRRS. We described an 8-year-old girl with the clinical features of BRRS, specifically with vascular anomalies. The mutation in the PTEN gene was identified by DNA sequencing. In our patient, we defined a de novo nonsense R335X (c.1003 C>T) mutation in exon 8, which results in a premature termination codon. Due to vascular anomalies and hemangioma, the patient's left leg was amputated 1 year after the hemangioma diagnosis. Bannayan - Riley - Ruvalcaba syndrome patients with macrocephaly and vascular anomalies should be considered for PTEN mutation analysis and special medical care.EnglishBannayan - Riley - Ruvalcaba Syndrome (BRRS)HemangiomaMacrocephalyPTEN geneVascular anomaliesDNAphosphatidylinositol 3,4,5 trisphosphate 3 phosphataseangiolipomaangiomyolipomaarteriovenous malformationarticleautosomal disorderBannayan Riley Ruvalcaba syndromecase reportchildcodoncolonoscopycongenital blood vessel malformationDNA sequenceelectroencephalogramelectromyographyexcisionexonface dysmorphiafacial nerve paralysisfemalefluctuating asymmetrygait disordergene mutationgenotype phenotype correlationhamartomahemangiomatosishistopathologyhumanhuman tissueleg amputationleg painmacrocephalymedical historymuscle atrophymuscle hemangiomatosismutational analysismyopathyneuroimagingneurologic examinationnonsense mutationnuclear magnetic resonance imagingrecurrent diseaseschool childseizureverruca vulgarisArticle10.2478/v10034-012-0007-x