Bannayan–Riley–Ruvalcaba Syndrome with Progressive Spinal Epidural Lipomatosis

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

doi:10.1055/s-0032-1324402

Neuropediatrics, Inhaltsverzeichnis

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

¹Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland

,

Andrea Poretti

¹Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland

²Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland

,

Ianina Scheer

³Department of Diagnostic Imaging, University Children's Hospital, Zurich, Switzerland

,

Thierry Huisman

²Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland

,

Eugen Boltshauser

¹Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland

› Institutsangaben

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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Referenzen

References
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