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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)

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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
 

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