Download PDF
Neuropediatrics 2012; 43(04): 221-224
DOI: 10.1055/s-0032-1324402
Short Communication
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Bannayan–Riley–Ruvalcaba Syndrome with Progressive Spinal Epidural Lipomatosis

Sandra Toelle
1   Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland
,
Andrea Poretti
1   Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland
2   Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland
,
Ianina Scheer
3   Department of Diagnostic Imaging, University Children's Hospital, Zurich, Switzerland
,
Thierry Huisman
2   Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland
,
Eugen Boltshauser
1   Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland
› Author Affiliations
Further Information

Publication History

11 April 2012

08 July 2012

Publication Date:
21 August 2012 (online)

Also available at
    Permissions and Reprints

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
    PubMedSearch in Google Scholar
  • 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
    CrossrefPubMedSearch in Google Scholar
  • 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
    CrossrefPubMedSearch in Google Scholar
  • 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
    Search in Google Scholar
  • 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
    CrossrefPubMedSearch in Google Scholar
  • 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
    CrossrefPubMedSearch in Google Scholar
  • 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
    CrossrefPubMedSearch in Google Scholar
  • 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
    CrossrefPubMedSearch in Google Scholar
  • 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
    CrossrefPubMedSearch in Google Scholar