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A screening method to distinguish syndromic from sporadic spinal extradural arachnoid cyst.
- Source :
-
Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association [J Orthop Sci] 2018 May; Vol. 23 (3), pp. 455-458. Date of Electronic Publication: 2018 Feb 16. - Publication Year :
- 2018
-
Abstract
- Background: Spinal extradural arachnoid cyst (SEDAC) is a cystic lesion that protrudes into the epidural space from a small dural defect. Early diagnosis of SEDAC is important because its expansion causes neurological damage. Two types of SEDAC, syndromic and sporadic, are present. Syndromic SEDAC is inherited as a part of lymphedema-distichiasis syndrome caused by mutations in the FOXC2 gene; however, it is often mistaken as sporadic because of low penetrance. It is not reasonable to conduct a genetic testing for all SEDAC patients and their family members. The aim of this study is to establish an effective screening method to distinguish syndromic SEDAC from sporadic SEDAC.<br />Methods: We performed a retrospective review of medical records and imaging studies of 29 subjects who were diagnosed with SEDAC. Clinical features, family history and magnetic resonance imaging (MRI) were analyzed. Mutations in FOXC2 were examined by Sanger-sequencing of the entire coding region of the genes. SEDAC having a mutation in FOXC2 gene was defined with syndromic SEDAC.<br />Results: Eleven subjects had a heterozygous mutation in FOXC2. They were all familial and hence syndromic SEDAC. Only one proband had known family history of SEDAC at diagnosis. MRI findings and physical examinations, especially eye and leg examinations, were quite useful to screen syndromic SEDAC. Physical examination often showed accompanying lymphedema and distichiasis in syndromic SEDAC. Syndromic SEDAC tended to have multiple cysts out of the thoracolumbar area.<br />Conclusions: We established an effective screening method based on physical examinations and MRI findings.<br /> (Copyright © 2018 The Japanese Orthopaedic Association. Published by Elsevier B.V. All rights reserved.)
- Subjects :
- Adolescent
Adult
Aged
Child
Diagnosis, Differential
Epidural Space
Humans
Lumbar Vertebrae
Lymphedema diagnosis
Lymphedema genetics
Magnetic Resonance Imaging
Middle Aged
Physical Examination
Retrospective Studies
Syndrome
Thoracic Vertebrae
Arachnoid Cysts diagnosis
Arachnoid Cysts genetics
Eyelashes abnormalities
Forkhead Transcription Factors genetics
Lymphedema complications
Mutation genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1436-2023
- Volume :
- 23
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association
- Publication Type :
- Academic Journal
- Accession number :
- 29459084
- Full Text :
- https://doi.org/10.1016/j.jos.2018.01.010