Bannayan–Riley–Ruvalcaba Syndrome with Progressive Spinal Epidural Lipomatosis

Abstract

We present a case study of an 11-year-old boy with Bannayan–Riley–Ruvalcaba syndrome (BRRS) with macrocephaly, lipomatosis, and penile freckles. BRRS was confirmed by a germline mutation in the phosphatase and tensin homolog (PTEN) gene. Repeated spinal imaging demonstrated an extensive progressive spinal epidural lipomatosis, compressing and dislocating the dural sac, so far without neurological deficits. Patients with BRRS are probably a risk for progressive spinal epidural lipomatosis and should be carefully monitored by neurological examinations and eventually neuroimaging follow-up studies.

Keywords

Bannayan–Riley–Ruvalcaba syndrome - spinal epidural lipomatosis - PTEN

• References

• 1 Bannayan GA. Lipomatosis, angiomatosis, and macrencephalia. A previously undescribed congenital syndrome. Arch Pathol 1971; 92 (1) 1-5
• 2 Lachlan KL, Lucassen AM, Bunyan D, Temple IK. Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. J Med Genet 2007; 44 (9) 579-585
• 3 Lynch NE, Lynch SA, McMenamin J, Webb D. Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay. Arch Dis Child 2009; 94 (7) 553-554
• 4 Eng C, PTEN Hamartoma Tumor Syndrome (PHTS). In: Pagon RA, Bird TD, Dolan CR, Stephens K. eds. GeneReviews. Seattle, WA: University of Washington; 2011
• 5 Tan MH, Mester J, Peterson C , et al. A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. Am J Hum Genet 2011; 88 (1) 42-56
• 6 Marsh DJ, Kum JB, Lunetta KL , et al. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet 1999; 8 (8) 1461-1472
• 7 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) 505-512
• 8 Möller JC, Cron RQ, Young DW , et al. Corticosteroid-induced spinal epidural lipomatosis in the pediatric age group: report of a new case and updated analysis of the literature. Pediatr Rheumatol Online J 2011; 9 (1) 5
• 9 Iacobas I, Burrows PE, Adams DM, Sutton VR, Hollier LH, Chintagumpala MM. Oral rapamycin in the treatment of patients with hamartoma syndromes and PTEN mutation. Pediatr Blood Cancer 2011; 57 (2) 321-323