Distrofia muscular progressiva congênita tipo Fukuyama descrição de um caso

 

Congenital progressive muscular dystrophy of the Fukuyama type: description of one case

 

 

José A. Levy^I; Mary Souza Carvalho Alegro^II; Paulo N. B. Salum^II; Mario W. Brotto^II; Ângela Levy^III

^IProfessor Adjunto - Trabalho do Centro de Investigação em Neurologia do Departamento de Neurologia da Faculdade de Medicina da Universidade de São Paulo (FMUSP)
^IIMédico Assistente - Trabalho do Centro de Investigação em Neurologia do Departamento de Neurologia da Faculdade de Medicina da Universidade de São Paulo (FMUSP)
^IIIBiomédica - Trabalho do Centro de Investigação em Neurologia do Departamento de Neurologia da Faculdade de Medicina da Universidade de São Paulo (FMUSP)

 

 

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RESUMO

Os autores relatam o primeiro caso de distrofia muscular progressiva congênita tipo Fukuyama descrito no Brasil, comprovado pelos achados clínicos e exames complementares. É dada ênfase à presença de retrações fibrotendinosas precoces e envolvimento do sistema nervoso central, o que constitui a característica fundamental da afecção. A moléstia é muito freqüente no Japão e pouco descrita em outros países. A etiopatogenia ainda não está definida.

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SUMMARY

The authors report the first Fukuyama type congenital progressive muscular dystrophy case described in Brazil, and confirmed through clinical findings and complementary tests. Emphasis is given to the presence of early fibro-tendinous retractions and impairment of the central nervous system, which constitute the fundamental characteristics of this affection. This disease is very common in Japan but very seldom described in other countries. Its etiopa-thogeny has not yet been defined.

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REFERÊNCIAS

1. EGGER, G. ; KENDALL, B.E. & BRETT, E.M. - Involvement of the central nervous system in congenital muscular dystrophies. Develop. Med. Child Neurol. 25:32, 1983.         [ Links ]

2. FUKUYAMA, Y. ; KAWAZURA, M. & HORUNA, H. - A peculiar form of congenital progressive muscular dystrophy: report of fifteen cases. Paediatric Univ. Tokyo 4:5, 1960.         [ Links ]

3. FUKUYAMA, Y. - Myopathies in infants and children. Clin. Neurol. (Tokyo) 1:409, 1961.         [ Links ]

4. FUKUYAMA, Y.; OSAWA, M. & SUZUKI, H. - Congenital progressive muscular dystrophy of the Fukuyama type: clinical, genetic and pathological considerations. Brain Dev. 3:1, 1981.         [ Links ]

5. HANSSON, O.; KRISTENSSEN, K.; L.YCHE, E.; SELOYMER, L. & SOURANDER, P. - Generalized myopathy and cerebral malformations possibly related to an enteroviral infection. Acta, paediatr. scand. 64:881, 1975.         [ Links ]

6. KAMOSHITA, S.; KONISHI, Y.; SEGAWA, M. & FUKUYAMA, Y. - Congenital muscular dystrophy as a disease of the central nervous system. Arch. Neurol. 33:513, 1976.         [ Links ]

7. NOGEN, A.G. - Congenital muscle disease and abnormal findings on computerized tomography. Develop. Med. Child Neurol. 22:658, 1980.         [ Links ]

8. NONAKA, I. & CHOU, S.M. - Congenital muscular dystrophy. In P.J. Vinken, G.W. Bruyn (eds.): Handbook of Clinical Neurology. Vol. 41. North Holland, Amsterdam, 1979.         [ Links ]

9. OSAWA, M. - A genetical and epidemiological study on congenital progressive muscular dystrophy (Fukuyama type). J. Tokyo Women's med. Coll. 48:112, 1978.         [ Links ]

10. OSAWA, M.; MARYAMA, H. & HIRAYAMA, Y. - Computerized tomography in patients with progressive muscular dystrophy (abstract) Dev. Med. Child Neurol. 22:262, 1980.         [ Links ]

11. SEGAWA, M.; NOMURA, Y.; MIZUMO, Y.; HOSAKA, A. & HACHIMORI, K. - Studies on pathogenesis of Fukuyama type congenital muscular dystrophy. Part. 1. In S. Okinaka (ed.): Ctirrent Research in Muscular Dystrophy, Japan: Proceedings of the Annual Meeting of the Muscular Dystrophy Research Group. Tokyo, 1978, pg. 114.         [ Links ]

12. YOSHIOKA, M.; OKUNO, T.; HONDA, Y. & NAKANO, Y. - Central nervous system involvement in progressive muscular dystrophy. Arch. Dis. Child. 55:589, 1980.         [ Links ]

 

 

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