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Bannayan-Riley-Ruvalcaba syndrome with progressive spinal epidural lipomatosis


Toelle, Sandra; Poretti, Andrea; Scheer, Ianina; Huisman, Thierry; Boltshauser, Eugen (2012). Bannayan-Riley-Ruvalcaba syndrome with progressive spinal epidural lipomatosis. Neuropediatrics, 43(4):221-224.

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.

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.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:2012
Deposited On:24 Jan 2013 14:21
Last Modified:05 Apr 2016 16:19
Publisher:Georg Thieme Verlag
ISSN:0174-304X
Publisher DOI:https://doi.org/10.1055/s-0032-1324402
PubMed ID:22911484

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