Bannayan-Riley-Ruvalcaba syndrome with progressive spinal epidural lipomatosis

Sandra Toelle, Andrea Poretti, Ianina Scheer, Thierry Huisman, Eugen Boltshauser

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)221-224
Number of pages4
JournalNeuropediatrics
Volume43
Issue number4
DOIs
StatePublished - 2012

Fingerprint

Multiple Hamartoma Syndrome
Lipomatosis
Megalencephaly
Melanosis
Germ-Line Mutation
Neurologic Examination
Phosphoric Monoester Hydrolases
Neuroimaging
Genes

Keywords

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

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

Toelle, S., Poretti, A., Scheer, I., Huisman, T., & Boltshauser, E. (2012). Bannayan-Riley-Ruvalcaba syndrome with progressive spinal epidural lipomatosis. Neuropediatrics, 43(4), 221-224. https://doi.org/10.1055/s-0032-1324402

Bannayan-Riley-Ruvalcaba syndrome with progressive spinal epidural lipomatosis. / Toelle, Sandra; Poretti, Andrea; Scheer, Ianina; Huisman, Thierry; Boltshauser, Eugen.

In: Neuropediatrics, Vol. 43, No. 4, 2012, p. 221-224.

Research output: Contribution to journalArticle

Toelle, S, Poretti, A, Scheer, I, Huisman, T & Boltshauser, E 2012, 'Bannayan-Riley-Ruvalcaba syndrome with progressive spinal epidural lipomatosis', Neuropediatrics, vol. 43, no. 4, pp. 221-224. https://doi.org/10.1055/s-0032-1324402
Toelle, Sandra ; Poretti, Andrea ; Scheer, Ianina ; Huisman, Thierry ; Boltshauser, Eugen. / Bannayan-Riley-Ruvalcaba syndrome with progressive spinal epidural lipomatosis. In: Neuropediatrics. 2012 ; Vol. 43, No. 4. pp. 221-224.
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