A screening method to distinguish syndromic from sporadic spinal extradural arachnoid cyst

Yoji Ogura, Shoji Yabuki, Shunsuke Fujibayashi, Eijiro Okada, Akio Iwanami, Koota Watanabe, Masaya Nakamura, Morio Matsumoto, Ken Ishii, Shiro Ikegawa

Research output: Contribution to journalArticle

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. 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. 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. Conclusions: We established an effective screening method based on physical examinations and MRI findings.

Original languageEnglish
Pages (from-to)455-458
Number of pages4
JournalJournal of Orthopaedic Science
Volume23
Issue number3
DOIs
Publication statusPublished - 2018 May 1

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Arachnoid Cysts
Physical Examination
Mutation
Magnetic Resonance Imaging
Genes
Epidural Space
Lymphedema
Penetrance
Genetic Testing
Diagnostic Imaging

ASJC Scopus subject areas

  • Orthopedics and Sports Medicine

Cite this

A screening method to distinguish syndromic from sporadic spinal extradural arachnoid cyst. / Ogura, Yoji; Yabuki, Shoji; Fujibayashi, Shunsuke; Okada, Eijiro; Iwanami, Akio; Watanabe, Koota; Nakamura, Masaya; Matsumoto, Morio; Ishii, Ken; Ikegawa, Shiro.

In: Journal of Orthopaedic Science, Vol. 23, No. 3, 01.05.2018, p. 455-458.

Research output: Contribution to journalArticle

Ogura, Yoji ; Yabuki, Shoji ; Fujibayashi, Shunsuke ; Okada, Eijiro ; Iwanami, Akio ; Watanabe, Koota ; Nakamura, Masaya ; Matsumoto, Morio ; Ishii, Ken ; Ikegawa, Shiro. / A screening method to distinguish syndromic from sporadic spinal extradural arachnoid cyst. In: Journal of Orthopaedic Science. 2018 ; Vol. 23, No. 3. pp. 455-458.
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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. 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. 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. Conclusions: We established an effective screening method based on physical examinations and MRI findings.",
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AU - Ogura, Yoji

AU - Yabuki, Shoji

AU - Fujibayashi, Shunsuke

AU - Okada, Eijiro

AU - Iwanami, Akio

AU - Watanabe, Koota

AU - Nakamura, Masaya

AU - Matsumoto, Morio

AU - Ishii, Ken

AU - Ikegawa, Shiro

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N2 - 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. 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. 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. Conclusions: We established an effective screening method based on physical examinations and MRI findings.

AB - 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. 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. 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. Conclusions: We established an effective screening method based on physical examinations and MRI findings.

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