Distrofia neuroaxonal infantil: diagnóstico em vida por biopsia conjuntival

Rosemberg, S.; Abita, F.; Campos, C.

doi:10.1590/S0004-282X1985000100007

Resumos

São relatados três casos de distrofia neuroaxonal infantil cujo diagnóstico foi feito mediante o estudo ultrastrutural de biópsia da conjuntiva. Nesta, algumas fibras nervosas amielínicas e, mais raramente, as mielínicas, mostravam, no axoplasma, agregados densos membrano-tubulares, idênticos aos dos esferóides ocorrentes no SNC nesta doença. O achado destas estruturas é o único meio diagnóstico em vida. A biópsia da conjuntiva, pela facilidade de sua execução e por sua inocuidade, é o procedimento preferido para este estudo. Clinicamente, a enorme hipotonia aliada a sinais piramidais, a ausência de crises convulsivas, a atrofia cerebelar visível à tomografia e o modo evolutivo, sugerem fortemente o diagnóstico de distrofia neuroaxonal infantil.

Three cases of infantile neuroaxonal dystrophy diagnosed by conjunctival biopsy are reported. Some axons of the conjunctival nerves showed aggregates of tubular and membranous structures identical to the spheroids of the CNS. The visualization of these structures is the only diagnostic tool in this disease of unknown metabolic basis. Conjunctival biopsy which is ease to perform is the preferential technique for the diagnosis òf this disease. Clinically, the intense hypotonia with pyramidal tract signs, the absence of seizures, the cerebellar atrophy observed at the computerized tomography suggest strongly the diagnosis of infantile neuroaxonal dystrophy.

Distrofia neuroaxonal infantil: diagnóstico em vida por biopsia conjuntival

Infantile neuroaxonal distrophy: diagnosis during life by conjunctival biopsy

S. Rosemberg^I; F. Abita^II; C. Campos^II

^IProfessor Associado do Departamento de Pediatria da FCM SC SP, chefe do Setor de Neuropediatria e Professor Livre Docente do Departamento de Pediatria da FMUSP, Disciplina de Neuropatologia

^IIInstrutor do Departamento de Pediatria da FCM SC SP

RESUMO

São relatados três casos de distrofia neuroaxonal infantil cujo diagnóstico foi feito mediante o estudo ultrastrutural de biópsia da conjuntiva. Nesta, algumas fibras nervosas amielínicas e, mais raramente, as mielínicas, mostravam, no axoplasma, agregados densos membrano-tubulares, idênticos aos dos esferóides ocorrentes no SNC nesta doença. O achado destas estruturas é o único meio diagnóstico em vida. A biópsia da conjuntiva, pela facilidade de sua execução e por sua inocuidade, é o procedimento preferido para este estudo. Clinicamente, a enorme hipotonia aliada a sinais piramidais, a ausência de crises convulsivas, a atrofia cerebelar visível à tomografia e o modo evolutivo, sugerem fortemente o diagnóstico de distrofia neuroaxonal infantil.

SUMMARY

Three cases of infantile neuroaxonal dystrophy diagnosed by conjunctival biopsy are reported. Some axons of the conjunctival nerves showed aggregates of tubular and membranous structures identical to the spheroids of the CNS. The visualization of these structures is the only diagnostic tool in this disease of unknown metabolic basis. Conjunctival biopsy which is ease to perform is the preferential technique for the diagnosis òf this disease. Clinically, the intense hypotonia with pyramidal tract signs, the absence of seizures, the cerebellar atrophy observed at the computerized tomography suggest strongly the diagnosis of infantile neuroaxonal dystrophy.

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Trabalho realizado no Setor de Neuropediatria do Departamento de Pediatria da Faculdade de Ciências Médicas da Santa Casa de São Paulo (FCM SC SP) e na Disciplina de Neuropatologia do Departamento de Patologia da Faculdade de Medicina da Universidade de São Paulo (FMUSP).

Departamento de Patologia, Faculdade de Medicina, USP - Av. Dr. Arnaldo 455 -01246, São Paulo, SP - Brasil.

1. ADAMS, R.D. & LYON, G. - Neurology of Hereditary Metabolic Diseases of Children. Hemisphere Publish. Corporation, Washington, 1982.
2. AICARDI, J. & CASTELEIN P. - Infantile neuroaxonal dystrophy. Brain 102: 727, 1979.
3. ARSÉNIO-NUNES, M.L. & GOUTIÈRES, F. - Diagnosis of infantile neuroaxonal distrophy by conjunctival biopsy. J. Neurol. Neurosurg. Psychiat. 41:511, 1978.
4. ARSÉNIO-NUNES, M.L.; GOUTIÈRES, F. & AICARDI, J. - An ultramicroscopic study of skin and conjunctival biopsies in chronic neurological disorders of childhood. Ann. Neurol. 9:163, 1981.
5. BERARD-BADIER, M.; GAMBARELLI, D.; PINSARD, N.; HASSOUN, J. & TOGA, M. - Infantile neuroaxonal dystrophy or Seitelbeger's disease. II. Peripheral nerve involvement: electron microscopic study in one case. Acta neuropath., suppl. 5:30, 1971.
6. DEFENDINI, R.; MARKESBERY, W.R.; MASTRI, A.R. & DUFFY P.E. - Haller-worden-Spatz disease and infantile neuroaxonal dystrophy. Ultrastructural observations, anatomical pathology and nosology. J. neurol. Sci. 20:7, 1973.
7. DIAMENT, A.J.; SCHMIDT, B.J. & ROSEMBERG, S. - Diagnosis of mental retardation in paediatric neurology. Ann. Nestlé (Lausanne) 41:7, 1979.
8. DUNCAN, C; STRUB, R.; McGARRY, P. & DUNCAN, D. - Peripheral nerve biopsy as an aid to diagnosis in infantile neuroaxonal dystrophy. Neurology (Minneapolis) 20:1024, 1970.
9. ELEDER, M. & JIRASEK, A. - New enzymatic findings in infantile neuroaxonal dystrophy. Acta neuropath. 60:153, 1983.
10. GILMAN, S. & BARRETT, R.E. - Hallerworden-Spatz disease and neuroaxonal dystrophy. Clinical characteristics and nosological considerations. J. neurol. Sci. 19:189, 1973.
11. LIBERT, J. - Diagnostic des maladies lysosomiales de stockage par biopsie conjonctivale. Manuscript awarded the Merck-Sharp-Dohme award for neurological sciences. Belgian Society of Neurology. Brussels, 1977.
12. MARTIN, J.J. & MARTIN, L. - Infantile neuroaxonal dystrophy. Ultrastructural study of the peripheral nerves and of the motor end plates. Europ. Neurol. 8:239, 1972.
13. SENGEL, A. & STOERNER, P. - Interêt de la biopsie neuro-musculaire dans lo diagnostic de la dystrophie neuro-axonale infantile. Acta neuropath. 21:109, 1972.
14. SHIMONO, M.; OHTA, M.; ASADA, M. & KUROIWA, Y. - Infantile neuro-axonal dystrophy. Ultrastructural study of peripheral nerve. Acta neuropath. 36:71, 1976.
15. SUNG, J.H.; PARK, S.H.; MASTRI, A.R. & WARWICK, W.J. - Axonal dystrophy in the gracile nucleus in congenital biliary atresia and cystic fibrosis (mucoviscidosis): beneficial effect of vitamin E therapy. J. Neuropath, exp. Neurol. 39:584, 1980.
16. YAGISHITA, S. - Morphological investigations on axonal swellings and spheroids in various diseases. Virchow Arch. path. Anat. Histol. 378:181, 1978.

Datas de Publicação

Publicação nesta coleção
13 Ago 2012
Data do Fascículo
Mar 1985

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

[1] 1. ADAMS, R.D. & LYON, G. - Neurology of Hereditary Metabolic Diseases of Children. Hemisphere Publish. Corporation, Washington, 1982.

[2] 2. AICARDI, J. & CASTELEIN P. - Infantile neuroaxonal dystrophy. Brain 102: 727, 1979.

[3] 3. ARSÉNIO-NUNES, M.L. & GOUTIÈRES, F. - Diagnosis of infantile neuroaxonal distrophy by conjunctival biopsy. J. Neurol. Neurosurg. Psychiat. 41:511, 1978.

[4] 4. ARSÉNIO-NUNES, M.L.; GOUTIÈRES, F. & AICARDI, J. - An ultramicroscopic study of skin and conjunctival biopsies in chronic neurological disorders of childhood. Ann. Neurol. 9:163, 1981.

[5] 5. BERARD-BADIER, M.; GAMBARELLI, D.; PINSARD, N.; HASSOUN, J. & TOGA, M. - Infantile neuroaxonal dystrophy or Seitelbeger's disease. II. Peripheral nerve involvement: electron microscopic study in one case. Acta neuropath., suppl. 5:30, 1971.

[6] 6. DEFENDINI, R.; MARKESBERY, W.R.; MASTRI, A.R. & DUFFY P.E. - Haller-worden-Spatz disease and infantile neuroaxonal dystrophy. Ultrastructural observations, anatomical pathology and nosology. J. neurol. Sci. 20:7, 1973.

[7] 7. DIAMENT, A.J.; SCHMIDT, B.J. & ROSEMBERG, S. - Diagnosis of mental retardation in paediatric neurology. Ann. Nestlé (Lausanne) 41:7, 1979.

[8] 8. DUNCAN, C; STRUB, R.; McGARRY, P. & DUNCAN, D. - Peripheral nerve biopsy as an aid to diagnosis in infantile neuroaxonal dystrophy. Neurology (Minneapolis) 20:1024, 1970.

[9] 9. ELEDER, M. & JIRASEK, A. - New enzymatic findings in infantile neuroaxonal dystrophy. Acta neuropath. 60:153, 1983.

[10] 10. GILMAN, S. & BARRETT, R.E. - Hallerworden-Spatz disease and neuroaxonal dystrophy. Clinical characteristics and nosological considerations. J. neurol. Sci. 19:189, 1973.

[11] 11. LIBERT, J. - Diagnostic des maladies lysosomiales de stockage par biopsie conjonctivale. Manuscript awarded the Merck-Sharp-Dohme award for neurological sciences. Belgian Society of Neurology. Brussels, 1977.

[12] 12. MARTIN, J.J. & MARTIN, L. - Infantile neuroaxonal dystrophy. Ultrastructural study of the peripheral nerves and of the motor end plates. Europ. Neurol. 8:239, 1972.

[13] 13. SENGEL, A. & STOERNER, P. - Interêt de la biopsie neuro-musculaire dans lo diagnostic de la dystrophie neuro-axonale infantile. Acta neuropath. 21:109, 1972.

[14] 14. SHIMONO, M.; OHTA, M.; ASADA, M. & KUROIWA, Y. - Infantile neuro-axonal dystrophy. Ultrastructural study of peripheral nerve. Acta neuropath. 36:71, 1976.

[15] 15. SUNG, J.H.; PARK, S.H.; MASTRI, A.R. & WARWICK, W.J. - Axonal dystrophy in the gracile nucleus in congenital biliary atresia and cystic fibrosis (mucoviscidosis): beneficial effect of vitamin E therapy. J. Neuropath, exp. Neurol. 39:584, 1980.

[16] 16. YAGISHITA, S. - Morphological investigations on axonal swellings and spheroids in various diseases. Virchow Arch. path. Anat. Histol. 378:181, 1978.