性腺機能低下症を合併した小脳性運動失調症の1例
症例は28歳男性で，幼少時から歩行時のふらつきがあったが，進行していなかった．25歳時に性腺機能低下症と小脳萎縮を指摘され，当院を受診した．両側卵黄状黄斑ジストロフィー，注視方向性眼振，構音障害，小脳性運動失調症，四肢腱反射低下，凹足変形をみとめた．大脳高次機能，嗅覚，聴覚には異常．内分泌学的検査で性腺機能低下症をみとめたが，既知の遺伝性脊髄小脳変性症やKallmann症候群の遺伝子異常はみとめなかった．頭部MRIで小脳萎縮，ECD-SPECTで両側小脳半球と脳幹の血流低下をみとめた．本症例は本邦2家系目のBoucher-Neuhäuser syndromeと考えられた．...
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| Published in | 臨床神経学 Vol. 50; no. 2; pp. 98 - 102 |
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| Main Authors | , , , , , |
| Format | Journal Article |
| Language | Japanese |
| Published |
日本神経学会
2010
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0009-918X 1882-0654 |
| DOI | 10.5692/clinicalneurol.50.98 |
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| Abstract | 症例は28歳男性で，幼少時から歩行時のふらつきがあったが，進行していなかった．25歳時に性腺機能低下症と小脳萎縮を指摘され，当院を受診した．両側卵黄状黄斑ジストロフィー，注視方向性眼振，構音障害，小脳性運動失調症，四肢腱反射低下，凹足変形をみとめた．大脳高次機能，嗅覚，聴覚には異常．内分泌学的検査で性腺機能低下症をみとめたが，既知の遺伝性脊髄小脳変性症やKallmann症候群の遺伝子異常はみとめなかった．頭部MRIで小脳萎縮，ECD-SPECTで両側小脳半球と脳幹の血流低下をみとめた．本症例は本邦2家系目のBoucher-Neuhäuser syndromeと考えられた． |
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| AbstractList | 症例は28歳男性で，幼少時から歩行時のふらつきがあったが，進行していなかった．25歳時に性腺機能低下症と小脳萎縮を指摘され，当院を受診した．両側卵黄状黄斑ジストロフィー，注視方向性眼振，構音障害，小脳性運動失調症，四肢腱反射低下，凹足変形をみとめた．大脳高次機能，嗅覚，聴覚には異常．内分泌学的検査で性腺機能低下症をみとめたが，既知の遺伝性脊髄小脳変性症やKallmann症候群の遺伝子異常はみとめなかった．頭部MRIで小脳萎縮，ECD-SPECTで両側小脳半球と脳幹の血流低下をみとめた．本症例は本邦2家系目のBoucher-Neuhäuser syndromeと考えられた． |
| Author | 長坂, 加織 飯田, 晴康 小林, 史和 新藤, 和雅 瀧山, 嘉久 栗原, 康 |
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| References | 10) 城倉 健, 山口滋紀, 松本麻理ら. 低ゴナドトロピン性性腺機能低下症と知能低下を伴う小脳失調症. 脳と神経 1994; 46: 493-496. 12) Fok AC, Wong MC, Cheah JS. Syndrome of cerebellar ataxia and hypogonadotrophic hypogonadism: evidence for pituitary gonadotrophin deficiency. J Neurol Neurosurg Psychiatry 1989; 52: 407-409. 4) Tojo K, et al. A new family of Boucher-Neuhäuser syndrome: coexistence of Holmes type cerebellar atrophy, hypogonadotropic hypogonadism and retinochoroidal degeneration: case reports and review of literature. Endocrine Journal 1995; 42: 367-376. 8) 他田正義, 小野寺理, 藤田信也ら. Hypogonadismを伴う小脳失調症. 神経内科 2004; 60: 512-519. 15) Albertson AJ, Talbott H, Wang Q, et al. The Gonadotropin-releasing hormone type I receptor is expressed in the mouse cerebellum. Cerebellum 2008; 7: 379-384. 7) Limber ER, Bresnick GH, Lebovitz RM, et al. Spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (Boucher-Neuhäuser syndrome). Am J Med Genet 1989; 33: 409-414. 9) Berciano J, et al. Familial cerebellar ataxia and hypogonadotropic hypogonadism: evidence for hypothalamic LHRH deficiency. J Neurol Neurosurg Psychiatry 1982; 45: 747-751. 11) Quinton R, Barnett P, Coskeran P, et al. Gordon Holmes spinocerebellar ataxia: a gonadotrophin deficiency syndrome resistant to treatment with pulsatile gonadotrophin-releasing hormone. Clin Endocrinol 1999; 51: 525-529. 3) Neuhäuser G, Opitz JM. Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism. Clin Genet 1975; 7: 426-434. 14) Wirsig-Wiechmann CR, Wiechmann AF. Vole retina is a target for gonadotropin-releasing hormone. Brain Res 2002; 950: 210-217. 2) Boucher BJ, Gibberd FB. Familial ataxia, hypogonadism and retinal degeneration. Acta Neurol Scand 1969; 45: 507-510. 13) Grens KE, Greenwood AK, Fernald RD. Two visual processing pathways are targeted by gonadotropin-releasing hormone in the retina. Brain Behav Evol 2005; 66: 1-9. 1) Holmes G. A form of familial degeneration of the cerebellum. Brain 1907; 30: 466-489. 6) Baroncini A, Franco N, Forabosco A. A new family with chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism (Boucher-Neuhäuser syndrome). Clin Genet 1991; 39: 274-277. 5) Rump R, Hamel BC, Pinckers AJ, et al. Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhäuser syndrome. J med Genet 1997; 34: 767-771. |
| References_xml | – reference: 11) Quinton R, Barnett P, Coskeran P, et al. Gordon Holmes spinocerebellar ataxia: a gonadotrophin deficiency syndrome resistant to treatment with pulsatile gonadotrophin-releasing hormone. Clin Endocrinol 1999; 51: 525-529. – reference: 5) Rump R, Hamel BC, Pinckers AJ, et al. Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhäuser syndrome. J med Genet 1997; 34: 767-771. – reference: 6) Baroncini A, Franco N, Forabosco A. A new family with chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism (Boucher-Neuhäuser syndrome). Clin Genet 1991; 39: 274-277. – reference: 9) Berciano J, et al. Familial cerebellar ataxia and hypogonadotropic hypogonadism: evidence for hypothalamic LHRH deficiency. J Neurol Neurosurg Psychiatry 1982; 45: 747-751. – reference: 14) Wirsig-Wiechmann CR, Wiechmann AF. Vole retina is a target for gonadotropin-releasing hormone. Brain Res 2002; 950: 210-217. – reference: 2) Boucher BJ, Gibberd FB. Familial ataxia, hypogonadism and retinal degeneration. Acta Neurol Scand 1969; 45: 507-510. – reference: 4) Tojo K, et al. A new family of Boucher-Neuhäuser syndrome: coexistence of Holmes type cerebellar atrophy, hypogonadotropic hypogonadism and retinochoroidal degeneration: case reports and review of literature. Endocrine Journal 1995; 42: 367-376. – reference: 13) Grens KE, Greenwood AK, Fernald RD. Two visual processing pathways are targeted by gonadotropin-releasing hormone in the retina. Brain Behav Evol 2005; 66: 1-9. – reference: 15) Albertson AJ, Talbott H, Wang Q, et al. The Gonadotropin-releasing hormone type I receptor is expressed in the mouse cerebellum. Cerebellum 2008; 7: 379-384. – reference: 8) 他田正義, 小野寺理, 藤田信也ら. Hypogonadismを伴う小脳失調症. 神経内科 2004; 60: 512-519. – reference: 1) Holmes G. A form of familial degeneration of the cerebellum. Brain 1907; 30: 466-489. – reference: 3) Neuhäuser G, Opitz JM. Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism. Clin Genet 1975; 7: 426-434. – reference: 10) 城倉 健, 山口滋紀, 松本麻理ら. 低ゴナドトロピン性性腺機能低下症と知能低下を伴う小脳失調症. 脳と神経 1994; 46: 493-496. – reference: 7) Limber ER, Bresnick GH, Lebovitz RM, et al. Spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (Boucher-Neuhäuser syndrome). Am J Med Genet 1989; 33: 409-414. – reference: 12) Fok AC, Wong MC, Cheah JS. Syndrome of cerebellar ataxia and hypogonadotrophic hypogonadism: evidence for pituitary gonadotrophin deficiency. J Neurol Neurosurg Psychiatry 1989; 52: 407-409. |
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| Title | 性腺機能低下症を合併した小脳性運動失調症の1例 |
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