Presentation of a case of a 5-year-old girl with Bannayan-Riley-Ruvalcaba syndrome
Keywords:
Bannayan-Riley-Ruvalcaba syndrome, cutaneous lipomas, malignant tumorsAbstract
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is one of the hamartoma tumor syndrome with a PTEN gene mutation. It is a rare dominant autosomal disorder characterized by cutaneous lipomas, macrocephaly, intestinal polyps, and developmental delay. Diagnosing this syndrome is important, because it may represent the pediatric phenotype of Cowden syndrome, in which there is an increased risk for malignant tumors in children. Here we report a case of a 5-year-old girl who was diagnosed with BRRS because of macrocephaly, intellectual disability, and myopathy.
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Copyright (c) 2021 Asia Asenova, I. Aleksandrova, D. Deneva, N. Ivanova, K. Kamenarova, R. Kuneva, D. Avdjieva-Tzavella, I. Dimova, N. Topalov, V. Bojinova
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