Doença de Charcot-Marie-Tooth: estudo da biópsia do nervo sural em 41 pacientes

Freitas, Marcos R.G.; Nascimento, Osvaldo J.M.; Chimelli, Leila; Freitas, Gabriel R. de

doi:10.1590/S0004-282X1995000400003

Resumos

São apresentados os resultados da biópsia do nervo sural à microscopia óptica e eletrônica (ME) em 41 pacientes com doença de Charcot-Marie-Tooth (CMT) Por estudos de neurocondução prévios nove eram do tipo I e 32 do tipo II. No tipo I, todos tinham grande diminuição do número de fibras, sendo os histogramas do tipo unimodal. Encontramos imagens de desmielinização, remielinização, formação de bulbos de cebola e de regeneração. Um paciente apresentava espessamento da bainha de mielina (atrofia axonal). No tipo II, sete pacientes não apresentavam anomalia à microscopia, com histograma normal. Nos restantes havia discreta a intensa perda de fibras mielínicas principalmente as de grande calibre. Em cinco enfermos havia aumento do número de fibras devido a grande regeneração. Alguns pacientes do tipo II apresentavam à ME imagens de pequenos bulbos de cebola e em um havia também atrofia axonal. Comparando com os dados clínicos e de neurocondução motora, no tipo I não encontramos relação entre a intensidade do quadro clínico e a perda de fibras mielínicas porém houve paralelismo da queda da neurocondução motora e a diminuição do número de fibras. No tipo II não houve relação entre o quadro clínico, a neurocondução e os achados da biópsia nervosa.

doença de Charcot-Marie-Tooth; biópsia do nervo sural; anatomopatologia

We studied the pathological findings of sural nerve biopsy in 41 patients with Charcot-Marie-Tooth (CMT) disease. They were previously classified by the median motor conduction velocity (MCV) in two types. Type I (demyelinating) with 9 patients and type II (axonal) with 32 cases. In type I we found loss of myelinated fibers (unimodal histogram), demyelinated and remyelinated axons with numerous onion bulb formations. In one case there was thickness of myelin with thin axons (axonal atrophy). In type II there were seven patients with normal sural nerve biopsy. In 25 cases there were mild to severe loss of myelinated fibers. In 5 patients the number of myelinated fibers was increased due to the great regeneration of the axons. The electron microscopic studies in type II showed in a few cases small onion bulbs and in one case axonal atrophy. In type I there was no correlation between clinical severity and the loss of myelinated fibers, but there was relationship between the low MCV and the intensity of myelinated fibers. In type II we did not found any correlation between clinical course, MCV and pathological findings.

Charcot-Marie-Tooth disease; sural nerve biopsy; pathological findings

Doença de Charcot-Marie-Tooth. Estudo da biópsia do nervo sural em 41 pacientes

Charcot-Marie-Tooth disease: sural nerve biopsy findings in 41 patients

Marcos R.G. Freitas^I; Osvaldo J.M. Nascimento^II; Leila Chimelli^III; Gabriel R. de Freitas^IV

^IProfessor Titular e Chefe do ServiçoSetor de Doenças Neuromusculares do Serviço de Neurologia do Hospital Universitário Antônio Pedro da Universidade Federal Fluminense

^IIProfessor TitularSetor de Doenças Neuromusculares do Serviço de Neurologia do Hospital Universitário Antônio Pedro da Universidade Federal Fluminense

^IIIProfessor Livre-Docente de Patologia da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo;Setor de Doenças Neuromusculares do Serviço de Neurologia do Hospital Universitário Antônio Pedro da Universidade Federal Fluminense

^IVMonitor. Setor de Doenças Neuromusculares do Serviço de Neurologia do Hospital Universitário Antônio Pedro da Universidade Federal Fluminense

RESUMO

São apresentados os resultados da biópsia do nervo sural à microscopia óptica e eletrônica (ME) em 41 pacientes com doença de Charcot-Marie-Tooth (CMT) Por estudos de neurocondução prévios nove eram do tipo I e 32 do tipo II. No tipo I, todos tinham grande diminuição do número de fibras, sendo os histogramas do tipo unimodal. Encontramos imagens de desmielinização, remielinização, formação de bulbos de cebola e de regeneração. Um paciente apresentava espessamento da bainha de mielina (atrofia axonal). No tipo II, sete pacientes não apresentavam anomalia à microscopia, com histograma normal. Nos restantes havia discreta a intensa perda de fibras mielínicas principalmente as de grande calibre. Em cinco enfermos havia aumento do número de fibras devido a grande regeneração. Alguns pacientes do tipo II apresentavam à ME imagens de pequenos bulbos de cebola e em um havia também atrofia axonal. Comparando com os dados clínicos e de neurocondução motora, no tipo I não encontramos relação entre a intensidade do quadro clínico e a perda de fibras mielínicas porém houve paralelismo da queda da neurocondução motora e a diminuição do número de fibras. No tipo II não houve relação entre o quadro clínico, a neurocondução e os achados da biópsia nervosa.

Palavras-chave: doença de Charcot-Marie-Tooth, biópsia do nervo sural, anatomopatologia.

SUMMARY

We studied the pathological findings of sural nerve biopsy in 41 patients with Charcot-Marie-Tooth (CMT) disease. They were previously classified by the median motor conduction velocity (MCV) in two types. Type I (demyelinating) with 9 patients and type II (axonal) with 32 cases. In type I we found loss of myelinated fibers (unimodal histogram), demyelinated and remyelinated axons with numerous onion bulb formations. In one case there was thickness of myelin with thin axons (axonal atrophy). In type II there were seven patients with normal sural nerve biopsy. In 25 cases there were mild to severe loss of myelinated fibers. In 5 patients the number of myelinated fibers was increased due to the great regeneration of the axons. The electron microscopic studies in type II showed in a few cases small onion bulbs and in one case axonal atrophy. In type I there was no correlation between clinical severity and the loss of myelinated fibers, but there was relationship between the low MCV and the intensity of myelinated fibers. In type II we did not found any correlation between clinical course, MCV and pathological findings.

Key words: Charcot-Marie-Tooth disease, sural nerve biopsy, pathological findings.

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Aceite: 31-março-1995.

Dr. Marcos R.G. Freitas - Rua Gastão Ruch 16 apto 1402 - 24220 -100 Niterói RJ - Brasil.

1. Behse F, Buchtal F. Peroneal muscular atrophy and related disorders: II. Histological findings in sural nerves. Brain 1977, 100:67-85.
2. Chimelli L, Nascimento O, Freitas MRG. Correlação clínico-patológico em 78 biópsias de nervo sural. Arq Neuropsiquiatr 1989, 47:413-422.
3. Dan A, Alexianu M, Vasilescy C, Manoele E. Some morphometrical data in neuronal type of hereditary sensorimotor neuropathy. J Neurol Sci 1990, 98: (Suppl): 404.
4. Dyck PJ. Histologic measurements and fine structure of biopsied sural nerve: normal and in peroneal muscular atrophy, hypertrophic neuropathy and congenital sensory neuropathy. Mayo Clin Proc 1966, 41:742-774.
5. Dyck PJ. Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory and autonomic neurons. In Dyck PJ, Thomas PK, Lambert EH, Bunge RWB (eds). Peripheral neuropathy Ed 2. Philadelphia: Saunders, 1984, p 1600-1655.
6. Dyck PJ, Chance P, Lebo R, Carney JR. Hereditary motor and sensory neuropathy. In Dyck PJ, Thomas PK. Peripheral neuropathy Ed 3. Philadelphia: Saunders, 1993, p 1094-1136.
7. Dyck PJ, Gutrecht JA, Bastron JA, Karnes WE, Dale AJD. Histologic and teased fiber measurements of sural nerve in disorders of lower motor and primary sensory neurons. Mayo Clin Proc 1968, 43:81-123.
8. Dyck PJ, Lambert EH. Lower motor and primary sensory neurons diseases with peroneal muscular atrophy: II. Arch Neurol 1968, 18:619-625.
9. Dyck PJ, Lambert EH, Sanders K, O'Brien PC. Severe hypomielination and marked abnormality of conduction in Dejerine-Sottas hypertrophic neuropathy: myelin thickness and compound action potential of sural nerve in vitro. Mayo Clin Proc 1971, 46:432-436.
10. Freitas MRG, Nascimento OJM, Freitas GR. Doenças de Charcot-Marie-Tooth: estudo clínico de 45 pacientes. Arq Neuropsiquiatr 1995, 53: 545-551.
11. Gabreels-Festen AAWM, Joosten EMG, Gabreels FJM, Jennekens FGI, Gooskens R. Infantile motor and sensory neuropathy of neuronal type. J Neurol Sci 1990, 98 (Suppl): 365-366.
12. Gabreels-Festen AAWN, Joosten EMG, Gabreels FJM, Jennekens FGI, Janssen-Van Kempen TW. Early morphologic features in dominantly inherited demyelinating motor and sensory neuropathy. J Neurol Sci 1992, 107:145-154.
13. Gherardi R, Bouche P, Escourolle R, Hauw JJ. Peroneal muscular atrophy: 2. Nerve biopsy studis. J Neurol Sci 1983, 61:401-416.
14. Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980, 103:259-280.
15. Low PA, McLeod JG, Prineas JW. Hypertrophic Charcot-Marie-Tooth disease. Light and electron microscopic studies of the sural nerve. J Neurol Sci 1978, 35:93-115.
16. Nukada H, Dyck PJ. Decreased axon caliber and neurofilaments in hereditary motor and sensory neuropathy, type I. Ann Neurol 1984, 16:238-241.
17. Nukada H, Dyck PJ, Karnes JL. Thin axons relative to myelin spiral lenght in hereditary motor and sensory neuropathy type I. Ann Neurol 1983, 14:648-655.
18. Ouvrier RA, McLeod JG, Conchin TE. The hypertrophic forms of hereditary motor and sensory neuropathy. Brain 1987, 110:121-148.
19. Ouvrier RA, McLeod JG, Pollard JD. The peroneal muscular atrophy syndrome. In Peripheral neuropathy in children. New York: Raven Press, 1990 p 63-103.
20. Thomas PK, Calne DB, Stewart G. Hereditary motor and sensory polyneuropathy (peroneal muscular atrophy). Ann Hum Genet 1974, 38:111-153).
21. Van Weerden TW, Houthoff HJ, Sie D, Minderhoud JM. Variability in nerve biopsy findings in a kinship with dominantly inherited Charcot-Marie-Tooth disease. Muscle Nerve 1982, 5:185-196.
22. Vital A, Vital C, Julien J, Fortan D. Occurence of active demyelinating lesions in children with hereditary motor and sensory neuropathy type I. Acta Neuropathol 1992, 84:433-436.
23. Vogel P, Gabriel M, Goebel HH, Dyck PJ. Hereditary motor sensory neuropathy type II with neurofilament accumulation: new finding or new disorder? Ann Neurolo 1985, 17:455-461.

Datas de Publicação

Publicação nesta coleção
20 Dez 2010
Data do Fascículo
Set 1995

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

[1] 1. Behse F, Buchtal F. Peroneal muscular atrophy and related disorders: II. Histological findings in sural nerves. Brain 1977, 100:67-85.

[2] 2. Chimelli L, Nascimento O, Freitas MRG. Correlação clínico-patológico em 78 biópsias de nervo sural. Arq Neuropsiquiatr 1989, 47:413-422.

[3] 3. Dan A, Alexianu M, Vasilescy C, Manoele E. Some morphometrical data in neuronal type of hereditary sensorimotor neuropathy. J Neurol Sci 1990, 98: (Suppl): 404.

[4] 4. Dyck PJ. Histologic measurements and fine structure of biopsied sural nerve: normal and in peroneal muscular atrophy, hypertrophic neuropathy and congenital sensory neuropathy. Mayo Clin Proc 1966, 41:742-774.

[5] 5. Dyck PJ. Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory and autonomic neurons. In Dyck PJ, Thomas PK, Lambert EH, Bunge RWB (eds). Peripheral neuropathy Ed 2. Philadelphia: Saunders, 1984, p 1600-1655.

[6] 6. Dyck PJ, Chance P, Lebo R, Carney JR. Hereditary motor and sensory neuropathy. In Dyck PJ, Thomas PK. Peripheral neuropathy Ed 3. Philadelphia: Saunders, 1993, p 1094-1136.

[7] 7. Dyck PJ, Gutrecht JA, Bastron JA, Karnes WE, Dale AJD. Histologic and teased fiber measurements of sural nerve in disorders of lower motor and primary sensory neurons. Mayo Clin Proc 1968, 43:81-123.

[8] 8. Dyck PJ, Lambert EH. Lower motor and primary sensory neurons diseases with peroneal muscular atrophy: II. Arch Neurol 1968, 18:619-625.

[9] 9. Dyck PJ, Lambert EH, Sanders K, O'Brien PC. Severe hypomielination and marked abnormality of conduction in Dejerine-Sottas hypertrophic neuropathy: myelin thickness and compound action potential of sural nerve in vitro. Mayo Clin Proc 1971, 46:432-436.

[10] 10. Freitas MRG, Nascimento OJM, Freitas GR. Doenças de Charcot-Marie-Tooth: estudo clínico de 45 pacientes. Arq Neuropsiquiatr 1995, 53: 545-551.

[11] 11. Gabreels-Festen AAWM, Joosten EMG, Gabreels FJM, Jennekens FGI, Gooskens R. Infantile motor and sensory neuropathy of neuronal type. J Neurol Sci 1990, 98 (Suppl): 365-366.

[12] 12. Gabreels-Festen AAWN, Joosten EMG, Gabreels FJM, Jennekens FGI, Janssen-Van Kempen TW. Early morphologic features in dominantly inherited demyelinating motor and sensory neuropathy. J Neurol Sci 1992, 107:145-154.

[13] 13. Gherardi R, Bouche P, Escourolle R, Hauw JJ. Peroneal muscular atrophy: 2. Nerve biopsy studis. J Neurol Sci 1983, 61:401-416.

[14] 14. Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980, 103:259-280.

[15] 15. Low PA, McLeod JG, Prineas JW. Hypertrophic Charcot-Marie-Tooth disease. Light and electron microscopic studies of the sural nerve. J Neurol Sci 1978, 35:93-115.

[16] 16. Nukada H, Dyck PJ. Decreased axon caliber and neurofilaments in hereditary motor and sensory neuropathy, type I. Ann Neurol 1984, 16:238-241.

[17] 17. Nukada H, Dyck PJ, Karnes JL. Thin axons relative to myelin spiral lenght in hereditary motor and sensory neuropathy type I. Ann Neurol 1983, 14:648-655.

[18] 18. Ouvrier RA, McLeod JG, Conchin TE. The hypertrophic forms of hereditary motor and sensory neuropathy. Brain 1987, 110:121-148.

[19] 19. Ouvrier RA, McLeod JG, Pollard JD. The peroneal muscular atrophy syndrome. In Peripheral neuropathy in children. New York: Raven Press, 1990 p 63-103.

[20] 20. Thomas PK, Calne DB, Stewart G. Hereditary motor and sensory polyneuropathy (peroneal muscular atrophy). Ann Hum Genet 1974, 38:111-153).

[21] 21. Van Weerden TW, Houthoff HJ, Sie D, Minderhoud JM. Variability in nerve biopsy findings in a kinship with dominantly inherited Charcot-Marie-Tooth disease. Muscle Nerve 1982, 5:185-196.

[22] 22. Vital A, Vital C, Julien J, Fortan D. Occurence of active demyelinating lesions in children with hereditary motor and sensory neuropathy type I. Acta Neuropathol 1992, 84:433-436.

[23] 23. Vogel P, Gabriel M, Goebel HH, Dyck PJ. Hereditary motor sensory neuropathy type II with neurofilament accumulation: new finding or new disorder? Ann Neurolo 1985, 17:455-461.