Abstract
Introduction:
Bannayan-Riley-Ruvalcaba Syndrome (BRRS) is a congenital disorder caused by a germline mutation in PTEN, a tumor suppressor gene. Although there are no specific diagnostic criteria, the disease may present with macrocephaly, mental retardation, raised birth weight, intestinal hamartomas, lipomas, macules and more [1].
Case Description:
A 14-year-old male presented with gradually progressive left-sided hemihyperplasia. History revealed elevated birth height and weight. He exhibited low average intelligence (IQ = 86) (WISC V Classification). Facial asymmetry and left-sided hemihypertrophy (more in the limbs) were observed. Muscular discrepancies included increased muscularity in the left arm, greater girth in the left thigh, and the left foot surpassing the right in size. The abdominal examination showed no organomegaly but mild tenderness at the umbilicus and left lumbar region. The enlargement of the testes and scrotal sac, dilated veins on the thigh, and skin hemangiomas on the body were noted. The laboratory results were remarkable for microcytic hypochromic anemia and a TLC of 3,000 cells/mm3. CT scans were unremarkable in light of hemihyperplasia. Doppler studies of lower limb arteries and veins ruled out significant abnormalities. Genetic testing and karyotyping revealed a PTEN mutation at 10q23.3 and confirmed BRRS. A colonoscopy unveiled multiple small nodules in the terminal ileum, confirmed as hamartomatous polyps through biopsy.
Discussion:
The typical triad for BRRS includes megalencephaly, gastrointestinal polyposis and genital pigmentation. Medical history may demonstrate birth weight, birth length and head circumference above the 97th percentile. Gastrointestinal polyposis could be responsible for chronic blood loss and anemia. Lipomas and skin lesions such as vascular malformations may aid diagnosis. [2] BRRS is more common in males and presents during infancy unlike Cowden's Syndrome [2]. BRRS can be confirmed with PTEN genetic analysis. Management involves multidisciplinary care and screening for neoplasms. Annual testing for hemoglobin levels should be done [3].
References
- Pilarski R, Stephens JA, Noss R, Fisher JL, Prior TW. Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. J Med Genet. 2011;48(8):505-12.
- Iskandarli M, Yaman B, Aslan A. A case of Bannayan-Riley-Ruvalcaba syndrome. A new clinical finding and brief review. Int J Dermatol. 2016;55(9):1040-3.
- Hendriks YM, Verhallen JT, van der Smagt JJ et al. Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. Fam Cancer. 2003;2(2):79-85.
