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Neurological Surgery No Shinkei Geka Volume 27, Issue 6 （June 1999）

Neurological Surgery 脳神経外科 27巻6号（1999年6月発行）

Japanese English

研究

von Hippel-Lindau病に伴う脊髄血管芽腫の検討 Analysis of Spinal Cord Hemangioblastoma in von Hippel-Lindau Disease 中嶋裕之 ¹ , 徳永浩司 ¹ , 田宮隆 ¹ , 松本健五 ¹ , 大本尭史 ¹ , 古田知久 ² Hiroyuki NAKASHIMA ¹ , Kouji TOKUNAGA ¹ , Takashi TAMIYA ¹ , Kengo MATSUMOTO ¹ , Takashi OHMOTO ¹ , Tomohisa FURUTA ² ¹岡山大学脳神経外科 ²岡山大学中央手術部 ¹Department of Neurological Surgery, Okayama University Medical School ²Central Division of Surgery, Okayama University Hospital キーワード： hemangioblastoma , von Hippel-Lindau disease , spinal cord tumor Keyword: hemangioblastoma , von Hippel-Lindau disease , spinal cord tumor pp.533-540

発行日 1999年6月10日 Published Date 1999/6/10

DOI https://doi.org/10.11477/mf.1436901735

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Abstract 文献概要
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I．はじめに

　脊髄血管芽腫は脊髄腫瘍の約5％とされ，比較的まれな腫瘍であるが，MRI上Gd-DTPAにより強く増強され，tumor cystを伴うことが多く，signal void，血管写上の濃染像などより診断は比較的容易であり，治療は腫瘍の全摘出により通常良好な結果が得られる^6）．

　しかし，常染色体優性遺伝疾患であるvon Hip-pel-Lindau病（VHL病）の脊髄病変として表れる場合，多発性の有無，網膜血管芽腫，腎細胞癌，副腎褐色細胞腫，腎および膵臓の嚢腫などの他臓器の病変の有無についても注意を払うことが必要であり，治療に際しても，脊髄病変の摘出のみでは終わらず，内科，眼科，泌尿器科などと連携して定期的に検査を行うことが必要となる．また，患者から遺伝学的な相談を受けることもあり，VHL病に合併する脊髄血管芽腫については特別な配慮が必要である．

Von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary disorder showing various clinic-al features. We analyzed 6 patients with spinal cord hemangioblastoma associated with VHL disease infour families. All patients had cerebellar hemangioblastomas. Four cases carried retinal hemangioblastomaand 5 cases showed visceral lesions ; renal cell carcinoma (2 cases), renal cyst (2 cases), pancreas cyst (2cases) and paraovarian tumor. In four cases, spinal cord hemangioblastomas were multiple.

Ten symptomatic or rapidly growing lesions in 5 patients were surgically resected. Two of these lesionswere extrameclullary spinal root hemangioblastoma. Operative results were good except for a case of ven-trally placed thoracic spinal intrameclullary hemangioblastoma who showed paraparesis postoperatively.One patient who suffered from complete paraplegia preoperatively did not recover after surgery. In twopatients, renal cell carcinoma was detected and nephrectomy was undergone. It was noteworthy that meta-stasis of renal cell carcinoma to the hemangioblastoma was histologically proved with anti-cytokeratin im-munostaining in two patients with VHL-associated renal cell carcinoma.

Molecular genetic analysis showed a missence mutation in one family and possible intragenic deletion inanother family. However, two families showed no VHL gene mutation with single strand conformationalpolymorphism or Southern blot analyses.

Spinal cord hemangioblastomas in VHL. disease are often multiple and located at various sites and seemto be underestimated. Surveillance should start in childhood and requires annual follow-up with imaging ofthe central nervous system and abdominal viscera. Presymptomatic diagnosis by gene analysis can be veryuseful for early detection of this disease.