Atrofia muscular espinhal infantil progressiva relato de 12 casos

Fontana, Maria Helena; Pörtner, Martin R.; Salim, Paulo A. K.; Bobek, Paulo R.; Roza, Paulo R. da

doi:10.1590/S0004-282X1990000100005

Resumos

Os autores relatam 12 casos de atrofia muscular espinhal infantil progressiva, diagnosticados no Hospital da Criança Santo Antonio, Porto Alegre. O diagnóstico foi realizado por exame clínico neurológico, dosagem de enzimas musculares séricas, eletroneuromiografia e biópsia muscular. Sâo analisados os aspectos clínicos de apresentação da doença, sua evolução e a investigação laboratorial, confrontando os resultados com os conceitos da literatura.

Twelve children with progressive spinal muscular atrophy were seen at Santo Antonio Children Hospital, Porto Alegre. Diagnosis was based on neurological evaluation, serum enzymes, electroneuromyography and muscle biopsy. Several aspects are discussed by the authors, especially those concerning the presentation mode of the illness and the laboratory investigation. Our results are reviewed under the light of the current literature.

Atrofia muscular espinhal infantil progressiva relato de 12 casos

Infantile progressive spinal muscular atrophy

Maria Helena Fontana^I; Martin R. Pörtner^II; Paulo A. K. Salim^III; Paulo R. Bobek^III; Paulo R. da Roza^III

^INeuropediatra - Trabalho realizado no Hospital da Criança Santo Antonio (HCSA), Porto Alegre, RS

^IINeurologista do Instituto de Pesquisa e Tratamento das Moléstias Neuromusculares - Trabalho realizado no Hospital da Criança Santo Antonio (HCSA), Porto Alegre, RS

^IIIEstagiário do Departamento de Pediatria - Trabalho realizado no Hospital da Criança Santo Antonio (HCSA), Porto Alegre, RS

RESUMO

Os autores relatam 12 casos de atrofia muscular espinhal infantil progressiva, diagnosticados no Hospital da Criança Santo Antonio, Porto Alegre. O diagnóstico foi realizado por exame clínico neurológico, dosagem de enzimas musculares séricas, eletroneuromiografia e biópsia muscular. Sâo analisados os aspectos clínicos de apresentação da doença, sua evolução e a investigação laboratorial, confrontando os resultados com os conceitos da literatura.

SUMMARY

Twelve children with progressive spinal muscular atrophy were seen at Santo Antonio Children Hospital, Porto Alegre. Diagnosis was based on neurological evaluation, serum enzymes, electroneuromyography and muscle biopsy. Several aspects are discussed by the authors, especially those concerning the presentation mode of the illness and the laboratory investigation. Our results are reviewed under the light of the current literature.

Texto completo disponível apenas em PDF.

Full text available only in PDF format.

Dra. Maria Helena Fontana - Rua Antão de Farias 60/403 - 90210 - Porto Alegre RS - Brasil.

1. Archibald KC - Problems in diagnosing progressive muscular and neuromuscular diseases. Arch Phys Med Rehab 44:353, 1963.
2. Armstrong RM, Fogelson MH, Silberberg DH - Familial proximal muscular atrophy. Arch Neurol 14:208, 1966.
3. Brandt S - Course and symptoms of progressive infantile muscular atrophy. Arch Neurol Psychiat 2:218, 1950.
4. Buchthal F, Olsen PZ - Electromyography and muscle biopsy in infantile spinal muscular atrophy. Brain 93:15. 1970.
5. Bundey S, Lovelace RE - A clinical and genetic study of chronic proximal spinal muscular atrophy. Brain 98:455. 1975.
6. Dubowitz V - Infantile muscular atrophy: a prospective study with particular reference to a slowly progressive variety. Brain 87:707, 1964.
7. Esperon LC, Esperon PSM, Esperon CJM, Kluiszo MC - Atrofia muscular espinhal progressiva infantil (doença de Werdnig-Hoffmann). Pediatria Moderna 23:267, 1988.
8. Kyllerman M - Infantile spinal muscular atrophy (morbus Werdnig-Hoffmann) causing neonatal asphyxia. Neuropädiatrie 8:53, 1977.
9. Levy JA, Bevilacqua GA, Ataíde L Jr - Amiotrofia espinal progressiva: considerações sobre 46 casos. Neurobiologia (Recife) 45:13, 1982.
10. Magee KR, De Jong RN - Neurogenic muscular atrophy simulating muscular dystrophy. Arch Neurol 2:103. 1960.
11. Marshall A, Duchen LW - Sensory system involvement in infantile spinal muscular atrophy. J Neurol Sci 26:349, 1975.
12. Schmidt B - A biópsia muscular em neurologia infantil. Neurologia Infantil Lefèvre. Ed 2. Atheneu, Rio, 1989.
13. Swaiman KF, Wright FS - In Harschberger SE (ed): The Practice of Pediatric Neurology. Ed 2. Mosby, Missouri, 19S2, pg 1153.
14 Tsukagoshi H, Nakanishi T. Kondo K, Tsubaki T - Hereditary proximal neurogenic muscular atrophy in adult. Arch Neurol 12:597, 1965.
15. Zatz M, Frota-Pessoa O, Serrano CP, Klein D - Nova forma de atrofia muscular espinhal pseudomiopática. Ciência e Cultura 23:141, 1971.
16. Zellweger H, Schneider H, Schuldt D - A new genetic variant of spinal muscular atrophy. Neurology 19:865, 1969.

Datas de Publicação

Publicação nesta coleção
25 Maio 2011
Data do Fascículo
Mar 1990

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

[1] 1. Archibald KC - Problems in diagnosing progressive muscular and neuromuscular diseases. Arch Phys Med Rehab 44:353, 1963.

[2] 2. Armstrong RM, Fogelson MH, Silberberg DH - Familial proximal muscular atrophy. Arch Neurol 14:208, 1966.

[3] 3. Brandt S - Course and symptoms of progressive infantile muscular atrophy. Arch Neurol Psychiat 2:218, 1950.

[4] 4. Buchthal F, Olsen PZ - Electromyography and muscle biopsy in infantile spinal muscular atrophy. Brain 93:15. 1970.

[5] 5. Bundey S, Lovelace RE - A clinical and genetic study of chronic proximal spinal muscular atrophy. Brain 98:455. 1975.

[6] 6. Dubowitz V - Infantile muscular atrophy: a prospective study with particular reference to a slowly progressive variety. Brain 87:707, 1964.

[7] 7. Esperon LC, Esperon PSM, Esperon CJM, Kluiszo MC - Atrofia muscular espinhal progressiva infantil (doença de Werdnig-Hoffmann). Pediatria Moderna 23:267, 1988.

[8] 8. Kyllerman M - Infantile spinal muscular atrophy (morbus Werdnig-Hoffmann) causing neonatal asphyxia. Neuropädiatrie 8:53, 1977.

[9] 9. Levy JA, Bevilacqua GA, Ataíde L Jr - Amiotrofia espinal progressiva: considerações sobre 46 casos. Neurobiologia (Recife) 45:13, 1982.

[10] 10. Magee KR, De Jong RN - Neurogenic muscular atrophy simulating muscular dystrophy. Arch Neurol 2:103. 1960.

[11] 11. Marshall A, Duchen LW - Sensory system involvement in infantile spinal muscular atrophy. J Neurol Sci 26:349, 1975.

[12] 12. Schmidt B - A biópsia muscular em neurologia infantil. Neurologia Infantil Lefèvre. Ed 2. Atheneu, Rio, 1989.

[13] 13. Swaiman KF, Wright FS - In Harschberger SE (ed): The Practice of Pediatric Neurology. Ed 2. Mosby, Missouri, 19S2, pg 1153.

[14] 14 Tsukagoshi H, Nakanishi T. Kondo K, Tsubaki T - Hereditary proximal neurogenic muscular atrophy in adult. Arch Neurol 12:597, 1965.

[15] 15. Zatz M, Frota-Pessoa O, Serrano CP, Klein D - Nova forma de atrofia muscular espinhal pseudomiopática. Ciência e Cultura 23:141, 1971.

[16] 16. Zellweger H, Schneider H, Schuldt D - A new genetic variant of spinal muscular atrophy. Neurology 19:865, 1969.