Amiotrofia espinal infantil com evolução atípica relato de dois casos: report of two cases

Ferreira, Laura M. F.; Reed, Umbertina C.; Silva, Luciano J. B.; Diament, Aron

doi:10.1590/S0004-282X1993000300020

Resumos

Os autores relatam dois casos de amiotrofia espinal infantil, confirmados por exame eletroneuromiográfico, que evoluiram de forma atípica. No primeiro, criança do sexo feminino de 10 anos de idade, a sintomatologia motora foi de predomínio distal. No outro, paciente do sexo feminino de 7 anos de idade, o quadro foi rapidamente progressivo em 4 meses, ocorrendo óbito após 10 meses. São apresentadas as classificações mais aceitas da doença, discutindo-se a caracterização da forma clínica apresentada por nossos pacientes.

amiotrofia espinal infantil; variantes clínicas; formas atípicas

The authors report two cases of infantile spinal muscular atrophy with atypical evolution diagnosed by means of EMG findings. The first one is a 10 years-old female child who has showed a distal predominium of the muscle weakness and atrophy. The second patient, a 7 year-old female child, has manifested within a period of 4 months a rapidly progressive tetraparesis that culminated in death after 10 months. The authors present the most accepted classifications of the illness land discuss the clinical manifestations of the two patients aiming to characterize the clinical forms, in accordance to the literature.

infantile spinal muscular atrophy; clinical variants; atypical forms

Amiotrofia espinal infantil com evolução atípica relato de dois casos

Infantile spinal muscular atrophy with atypical evolution: report of two cases

Laura M. F. Ferreira^I; Umbertina C. Reed^II; Luciano J. B. Silva^I; Aron Diament^III

^IMédico Residente. Serviço de Neurologia Infantil, Divisão de Clínica Neurológica, Hospital das Clínicas (HC) da Faculdade de Medicina da Universidade de São Paulo (FMUSP)

^IIProfessora Assistente Doutor. Serviço de Neurologia Infantil, Divisão de Clínica Neurológica, Hospital das Clínicas (HC) da Faculdade de Medicina da Universidade de São Paulo (FMUSP)

^IIIProfessor Associado de Neurologia Infantil, Chefe do Serviço de Neurologia Infantil da Divisão de Clínica Neurológica do HC, FMUSP. Serviço de Neurologia Infantil, Divisão de Clínica Neurológica, Hospital das Clínicas (HC) da Faculdade de Medicina da Universidade de São Paulo (FMUSP)

RESUMO

Os autores relatam dois casos de amiotrofia espinal infantil, confirmados por exame eletroneuromiográfico, que evoluiram de forma atípica. No primeiro, criança do sexo feminino de 10 anos de idade, a sintomatologia motora foi de predomínio distal. No outro, paciente do sexo feminino de 7 anos de idade, o quadro foi rapidamente progressivo em 4 meses, ocorrendo óbito após 10 meses. São apresentadas as classificações mais aceitas da doença, discutindo-se a caracterização da forma clínica apresentada por nossos pacientes.

Palavras-chave: amiotrofia espinal infantil, variantes clínicas, formas atípicas.

SUMMARY

The authors report two cases of infantile spinal muscular atrophy with atypical evolution diagnosed by means of EMG findings. The first one is a 10 years-old female child who has showed a distal predominium of the muscle weakness and atrophy. The second patient, a 7 year-old female child, has manifested within a period of 4 months a rapidly progressive tetraparesis that culminated in death after 10 months. The authors present the most accepted classifications of the illness land discuss the clinical manifestations of the two patients aiming to characterize the clinical forms, in accordance to the literature.

Key words: infantile spinal muscular atrophy, clinical variants, atypical forms.

Full text available only in PDF format.

Texto completo disponível apenas em PDF.

Aceite: 13-janeiro-1993.

Dra. Laura Maria de Figueiredo Ferreira Divisão de Clínica Neurológica, Hospital das Clínicas, FMUSP - Av. Dr. Enéas de Carvalho Aguiar 255 - 05403-900 São Paulo SP - Brasil.

1. Beauvais P, Billette de Villemeur T, Richardet JM. Sclérose latérale amyotrophique probable de l'enfant. Arch Fr Pediat 1990, 47:519-522.
2. Brzustowicz LM, Lehner T, Castilla EH, Penchaszadeh GK, Wilhemsen KC, Daniels R, Davies RM, Leppert M, Ziter F, Wood D, Dubowitz V, Zerres K, Hausmanowa-Fetrusewicz I, Ott J, Munsat TL, Tillam TC. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature 1990, 344:540-541.
3. Dubowitz V. Infantile muscular atrophy: a prospective study with particular reference to a slowly progressive variety. Brain 1964, 87:707-718.
4. Emery AE. The nosology of the spinal muscular atrophies. J Med Genet 1971, 8:481-495.
5. Gardner-Medwin D, Hudgson P, Walton JN. Benign spinal muscular atrophy arising in childhood and adolescence. J Neurol Sci 1967, 5:121-158.
6. Harding AE, Thomas PK. Hereditary distal spinal muscular atrophy. J Neurol Sci 1980, 45:337-348.
7. Hoffmann J. Uber chronische spinale Muskel-Atrophie im Kindesalter auf familarer Basis. Dtsch Z Nervenheilk 1893, 3:427-470.
8. Martin-Sneesens L. Formes à évolution très prolongée de l'amyotrophie spinale de Werdnig-Hoffmann. J Génét Hum 1962, 11:251-269.
9. Roob SA, McShane MA, Wilson J, Payan J. Acute onset spinal muscular atrophy in siblings. Neuropediatrics 1991, 22:45-46.
10. Samat HB, Jacob P, Jimenez C. Spinal muscular atrophy: disappearance of RNA fluorescence of degenerating motor neurons (an acridine orange study). Rev Neurol (Paris) 1989, 145:305-311.
11. Serratrice G. Amyotrophies spinales progressives. Encycl Méd Chir: Neurologie. Paris, 1987, 17081 A¹⁰, 10, p 7.
12. Swalman KF. Pediatric neurology: principles and practice. St Louis: Mosby, 1989, Vol 2, p 1066-1092.
13. Williams DB, Windenbank AJ. Motor neuron disease (amyotrophic lateral sclerosis). Mayo Clin Proc 1991, 66:54-82.
14. Werdnig G. Zwei fruhinfantile hereditare Falle von progressiver Muskelatrophie unter dem Bilde der Dystrophie, aber auch neurotischer Grundlage. Arch Psychiat Nervenkr 1891, 22:437-481.
15. World Federation of Neurology Research Committee, Research Group on Neuromuscular Diseases. J Neurol Sci 1988, 86:333-360.

Datas de Publicação

Publicação nesta coleção
19 Jan 2011
Data do Fascículo
Set 1993

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

[1] 1. Beauvais P, Billette de Villemeur T, Richardet JM. Sclérose latérale amyotrophique probable de l'enfant. Arch Fr Pediat 1990, 47:519-522.

[2] 2. Brzustowicz LM, Lehner T, Castilla EH, Penchaszadeh GK, Wilhemsen KC, Daniels R, Davies RM, Leppert M, Ziter F, Wood D, Dubowitz V, Zerres K, Hausmanowa-Fetrusewicz I, Ott J, Munsat TL, Tillam TC. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature 1990, 344:540-541.

[3] 3. Dubowitz V. Infantile muscular atrophy: a prospective study with particular reference to a slowly progressive variety. Brain 1964, 87:707-718.

[4] 4. Emery AE. The nosology of the spinal muscular atrophies. J Med Genet 1971, 8:481-495.

[5] 5. Gardner-Medwin D, Hudgson P, Walton JN. Benign spinal muscular atrophy arising in childhood and adolescence. J Neurol Sci 1967, 5:121-158.

[6] 6. Harding AE, Thomas PK. Hereditary distal spinal muscular atrophy. J Neurol Sci 1980, 45:337-348.

[7] 7. Hoffmann J. Uber chronische spinale Muskel-Atrophie im Kindesalter auf familarer Basis. Dtsch Z Nervenheilk 1893, 3:427-470.

[8] 8. Martin-Sneesens L. Formes à évolution très prolongée de l'amyotrophie spinale de Werdnig-Hoffmann. J Génét Hum 1962, 11:251-269.

[9] 9. Roob SA, McShane MA, Wilson J, Payan J. Acute onset spinal muscular atrophy in siblings. Neuropediatrics 1991, 22:45-46.

[10] 10. Samat HB, Jacob P, Jimenez C. Spinal muscular atrophy: disappearance of RNA fluorescence of degenerating motor neurons (an acridine orange study). Rev Neurol (Paris) 1989, 145:305-311.

[11] 11. Serratrice G. Amyotrophies spinales progressives. Encycl Méd Chir: Neurologie. Paris, 1987, 17081 A¹⁰, 10, p 7.

[12] 12. Swalman KF. Pediatric neurology: principles and practice. St Louis: Mosby, 1989, Vol 2, p 1066-1092.

[13] 13. Williams DB, Windenbank AJ. Motor neuron disease (amyotrophic lateral sclerosis). Mayo Clin Proc 1991, 66:54-82.

[14] 14. Werdnig G. Zwei fruhinfantile hereditare Falle von progressiver Muskelatrophie unter dem Bilde der Dystrophie, aber auch neurotischer Grundlage. Arch Psychiat Nervenkr 1891, 22:437-481.

[15] 15. World Federation of Neurology Research Committee, Research Group on Neuromuscular Diseases. J Neurol Sci 1988, 86:333-360.