A Case of Tuberous Sclerosis with Subepedymal Giant Cell Astrocytoma without Classical Triad

Tuberous sclerosis (TSC) is a autosomal dominant multisystem neurocutaneous syndrome characterized by the development of multiple hamartomas distributed throughout the body, skin, brain and lungs. TSC had been diagnosed by classical triad as epilepsy, mental retardation and facial angiofibromas. Mul...

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Published inThe Medical Journal of Matsue City Hospital Vol. 18; no. 1; pp. 53 - 56
Main Authors 阿武 雄一, 瀧川 晴夫, 吉田 学, 福永 典子, 高橋 千春
Format Journal Article
LanguageJapanese
Published Matsue City Hospital 2014
松江市立病院
Subjects
手術
結節性硬化症
脳室上衣下巨細胞性星細胞腫
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ISSN1343-0866
2434-8368
DOI10.32294/mch.18.1_53

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Abstract Tuberous sclerosis (TSC) is a autosomal dominant multisystem neurocutaneous syndrome characterized by the development of multiple hamartomas distributed throughout the body, skin, brain and lungs. TSC had been diagnosed by classical triad as epilepsy, mental retardation and facial angiofibromas. Multimodal imaging can depict tumor spontaneously in asymptomatic case. We report a case of subependymal giant cell astrocytoma without any symptoms of the triad.
AbstractList Tuberous sclerosis (TSC) is a autosomal dominant multisystem neurocutaneous syndrome characterized by the development of multiple hamartomas distributed throughout the body, skin, brain and lungs. TSC had been diagnosed by classical triad as epilepsy, mental retardation and facial angiofibromas. Multimodal imaging can depict tumor spontaneously in asymptomatic case. We report a case of subependymal giant cell astrocytoma without any symptoms of the triad.
Tuberous sclerosis (TSC) is a autosomal dominant multisystem neurocutaneous syndrome characterized by the development of multiple hamartomas distributed throughout the body, skin, brain and lungs. TSC had been diagnosed by classical triad as epilepsy, mental retardation and facial angiofibromas. Multimodal imaging can depict tumor spontaneously in asymptomatic case. We report a case of subependymal giant cell astrocytoma without any symptoms of the triad. 閉塞性水頭症で発症した側脳室内腫瘍の全摘術を施行したが，病理所見の結果は脳室上衣下巨細胞性星細胞腫であった．患者はてんかん，精神発達遅滞，皮膚病変を欠く結節性硬化症例であった．若干の考察を加え報告する．
Author 福永 典子
高橋 千春
吉田 学
阿武 雄一
瀧川 晴夫
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  fullname: 高橋 千春
  organization: 島根大学　皮膚科
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DocumentTitleAlternate 脳室上衣下巨細胞性星細胞腫で発症し古典的3 徴を欠く結節性硬化症の1 例
DocumentTitle_FL 脳室上衣下巨細胞性星細胞腫で発症し古典的3 徴を欠く結節性硬化症の1 例
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References 1)結節性硬化症の診断基準・治療カイトライン作成委員会　金田眞理, 吉田雄一, 久保田由美子　他　結節性硬化症の診断基準および治療ガイドライン日皮会誌 2008：118：1667-1676.
3)Van Slegtenhorst M, Hoogt R, Hermans C, et al : Identification of The Tuberous Sclerosis Gene TSC1 on Chromosome 9q34, Science 1997：277：805-809.
2)The European chromosome 16 Tuberous Sclerosis Consortium : Identification and characterization of tuberous sclerosis gene on chromosome 16, Cell 1993：75：1305-1315.
4)Roach ES, Gomez MR, Northrup H : Tubereous sclerosis complex consensus conference : revised clinical diagnostic criteria, J Child Neurol 1998：13：624-628.
5)Ichikawa T, Wakisaka A, Daido S, et al. A Case of Solitary Subependymal Giant Cell Astrocytoma J Mol Diagn 2005：7：544-549.
References_xml – reference: 3)Van Slegtenhorst M, Hoogt R, Hermans C, et al : Identification of The Tuberous Sclerosis Gene TSC1 on Chromosome 9q34, Science 1997：277：805-809.
– reference: 4)Roach ES, Gomez MR, Northrup H : Tubereous sclerosis complex consensus conference : revised clinical diagnostic criteria, J Child Neurol 1998：13：624-628.
– reference: 2)The European chromosome 16 Tuberous Sclerosis Consortium : Identification and characterization of tuberous sclerosis gene on chromosome 16, Cell 1993：75：1305-1315.
– reference: 1)結節性硬化症の診断基準・治療カイトライン作成委員会　金田眞理, 吉田雄一, 久保田由美子　他　結節性硬化症の診断基準および治療ガイドライン日皮会誌 2008：118：1667-1676.
– reference: 5)Ichikawa T, Wakisaka A, Daido S, et al. A Case of Solitary Subependymal Giant Cell Astrocytoma J Mol Diagn 2005：7：544-549.
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SubjectTerms 手術
結節性硬化症
脳室上衣下巨細胞性星細胞腫
Title A Case of Tuberous Sclerosis with Subepedymal Giant Cell Astrocytoma without Classical Triad
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