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

Bannayan-Riley-Ruvalcaba syndrome with progressive spinal epidural lipomatosis

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

Research output: Contribution to journal › Article › peer-review

9 Scopus citations

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 language	English (US)
Pages (from-to)	221-224
Number of pages	4
Journal	Neuropediatrics
Volume	43
Issue number	4
DOIs	https://doi.org/10.1055/s-0032-1324402
State	Published - 2012
Externally published	Yes

Keywords

Bannayan-Riley-Ruvalcaba syndrome
PTEN
spinal epidural lipomatosis

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Clinical Neurology

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10.1055/s-0032-1324402

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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.",

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AU - Toelle, Sandra

AU - Poretti, Andrea

AU - Scheer, Ianina

AU - Huisman, Thierry

AU - Boltshauser, Eugen

PY - 2012

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N2 - 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.

AB - 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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Bannayan-Riley-Ruvalcaba syndrome with progressive spinal epidural lipomatosis

Abstract

Keywords

ASJC Scopus subject areas

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