Doença de krabbe (leucodistrofia a células globóides) a propósito de cinco observações

Rosemberg, S.; Kliemann, S. E.; Arita, F. N.

doi:10.1590/S0004-282X1992000300013

Resumos

Foi realizado estudo clínico de 5 observações da doença de Krabbe (leucodistro-fia a células globóides). O diagnóstico de certeza, seja pelo estudo neuropatológico pós mortem (2 casos), seja pela dosagem enzimática em fibroblastos em cultura (2 casos), foi alcançado em 4 observações. A biópsia de nervo periférico foi realizada nos 5 casos e o estudo ultrastrutural revelou, em todos, aliterações características da doença de Krabbe. Os autores chamam a atenção para os principais dados clínicos e laboratoriais que sugerem o diagnóstico da doença, mesmo na impossibilidade da realização de exame ultrastrutural de nervo periférico e das dosagens enzimáticas, estas não realizadas em nosso país.

doença de Krabbe; leucodistrofia; células globóides; encefalopatias metabólicas

A clinical study on five cases of Krabbe's disease (globoid cell leukodistrophy) was performed. A final diagnosis was done either with post-mortem study (two cases) or by enzymatic assays carried on cultured fibroblasts (two cases). Peripheral nerve biopsy for electron microscopy was performed in all cases, and the ultrastructural alterations characteristics of Krabbe's disease were always found. The authors emphasize the suggestive clinical and laboratory data which enable the diagnosis of Krabbe's disease in the absence of the ultrastructural exam of peripheral nerve, or the enzymatic assays not performed in this country.

Krabbe's disease; leukodystrophy; globoid cells; metabolic encephalopathies

Doença de krabbe (leucodistrofia a células globóides) a propósito de cinco observações

Krabbe's disease (globoid cell leukodystrophy): a report of five cases.

S. Rosemberg; S. E. Kliemann; F. N. Arita

Trabalho realizado no Departamento de Pediatria (Disciplina de Neuropediatria) da Faculdade de Medicina da Santa Casa de São Paulo e no Departamento de Patologia (Disciplina de Neuropatologia) da Faculdade de Medicina da Universidade de São Paulo (USP)

RESUMO

Foi realizado estudo clínico de 5 observações da doença de Krabbe (leucodistro-fia a células globóides). O diagnóstico de certeza, seja pelo estudo neuropatológico pós mortem (2 casos), seja pela dosagem enzimática em fibroblastos em cultura (2 casos), foi alcançado em 4 observações. A biópsia de nervo periférico foi realizada nos 5 casos e o estudo ultrastrutural revelou, em todos, aliterações características da doença de Krabbe. Os autores chamam a atenção para os principais dados clínicos e laboratoriais que sugerem o diagnóstico da doença, mesmo na impossibilidade da realização de exame ultrastrutural de nervo periférico e das dosagens enzimáticas, estas não realizadas em nosso país.

Palavras-chave: doença de Krabbe, leucodistrofia, células globóides, encefalopatias metabólicas.

SUMMARY

A clinical study on five cases of Krabbe's disease (globoid cell leukodistrophy) was performed. A final diagnosis was done either with post-mortem study (two cases) or by enzymatic assays carried on cultured fibroblasts (two cases). Peripheral nerve biopsy for electron microscopy was performed in all cases, and the ultrastructural alterations characteristics of Krabbe's disease were always found. The authors emphasize the suggestive clinical and laboratory data which enable the diagnosis of Krabbe's disease in the absence of the ultrastructural exam of peripheral nerve, or the enzymatic assays not performed in this country.

Key words: Krabbe's disease, leukodystrophy, globoid cells, metabolic encephalopathies.

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Agradecimentos  Os autores agradecem o Dr. François van Hoof do Service de Neu-rologie Pédiatrique, Hôpital St. Luc, Université Catholique de Louvain, pela realização das dosiagens enzimáticas e a Srta. Maria Elí P. de Castro pelo trabalho datilográfico.

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

1. Adams RD, Lyon G. Neurology of Hereditary Metabolic Diseases of Children. New York: McGraw-Hill, 1982, p 58.
2. Austin J, Lehfeldt DR, Maxwell W. Experimental globoid bodies in white matter and chemical analysis in Krabbe's disease. J Neuropath Exp Neurol 1961, 20:284-285.
3. Baram TZ, Goldman AM, Percy AK. Krabbe disease: specific MRI and CT findings. Neurotogy 1986, 36:111-115.
4. Cavanagh N, Kendall B. High density on computed tomography in infantile Krabbe' s disease: a case report. Dev Med Child Neurol 1986, 28:799-802.
5. Demaerel PL, Wilms G, Verdru P. Carton H, Baert AL. NR findings in globoid cell leucodystrophy. Neuroradiology 1990, 32:520-522.
6. Hagberg B, Sourander P, Svennerholm L. Diagnosis of Krabbe's infantile leucodystrophy. J Neurol Neurosurg Psychiatry 1963, 26:195-198.
7. Igisu H, Susuki K. Progressive accumulation of toxic metabolite in a genetic leukodystrophy. Science 1984, 224:753-755.
8. Kudoh T, Wenger DA. Prenatal diagnosis of Krabbe disease: galactosylceramide metabolism in cultural amniotic fluid cells. J Pediat 1982, 101:754-757.
9. Kwan E, Drace J, Enzmann D. Specific CT findings in Krabbe disease. Am J Roentgenol 1984. 143:665-670.
10. Loonen MCB, Van Diggelen OP, Janse HC, Kleijer WJ, Arts WFM. Late onset globoid cell leukodystrophy (Krabbe's disease) : clinical and genetic delineation of two forms and their relation to thearly infantile form. Neuropediatrics 1985, 16:137-142.
11. Lyon G, Jardin L, Aicardi J. Etude au microscope électronique d'un nerf périphérique dans un cas de leucodystrophie de Krabbe. J Neurol Sci 1971, 12:263-274.
12. Nowell MA, Grossman RI, Hackney DB, Zimmerman RA, Goldberg HI, Bilaniuk LT. MR imaging of white matter disease in children. Am J Roentgnol 1988, 151:359-365.
13. Phelps M, Aicardi J, Vanier MT. Late onset Krabbe's leukodystrophy: a report of four cases, J Neurol Neurosurg Psychiatr 1991, 54:292-296.
14. Suzuki K, Susuki Y. Globoid cell leukodystrophy (Krabbe's disease) : deficiency of ga-lacto-cerebroside-galactosidase. Proc Natl Acad Sei USA 1970, 66:302-309.
15. Susuki Y, Susuki K. Krabbe's globoid cell leukodystrophy: deficiency of galactocere-brosidadase in serum, leukocytes, and fibrolasts. Science 1971, 171:73-75.
16. Valk JL, Van Der Knaap MS. Magnetic resonance of myelin, myelination, and! myelin disorders. Berlin: Springer-Verlag. 1989, p 80.
17. Winants D, Bernard C, Galloy MA, Hoeffel JC, Vidailhet M. Scanographie et IRM de la maladie de Krabbe. J Radiol 1988, 69:697-700.

Datas de Publicação

Publicação nesta coleção
22 Fev 2011
Data do Fascículo
Set 1992

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

[1] 1. Adams RD, Lyon G. Neurology of Hereditary Metabolic Diseases of Children. New York: McGraw-Hill, 1982, p 58.

[2] 2. Austin J, Lehfeldt DR, Maxwell W. Experimental globoid bodies in white matter and chemical analysis in Krabbe's disease. J Neuropath Exp Neurol 1961, 20:284-285.

[3] 3. Baram TZ, Goldman AM, Percy AK. Krabbe disease: specific MRI and CT findings. Neurotogy 1986, 36:111-115.

[4] 4. Cavanagh N, Kendall B. High density on computed tomography in infantile Krabbe' s disease: a case report. Dev Med Child Neurol 1986, 28:799-802.

[5] 5. Demaerel PL, Wilms G, Verdru P. Carton H, Baert AL. NR findings in globoid cell leucodystrophy. Neuroradiology 1990, 32:520-522.

[6] 6. Hagberg B, Sourander P, Svennerholm L. Diagnosis of Krabbe's infantile leucodystrophy. J Neurol Neurosurg Psychiatry 1963, 26:195-198.

[7] 7. Igisu H, Susuki K. Progressive accumulation of toxic metabolite in a genetic leukodystrophy. Science 1984, 224:753-755.

[8] 8. Kudoh T, Wenger DA. Prenatal diagnosis of Krabbe disease: galactosylceramide metabolism in cultural amniotic fluid cells. J Pediat 1982, 101:754-757.

[9] 9. Kwan E, Drace J, Enzmann D. Specific CT findings in Krabbe disease. Am J Roentgenol 1984. 143:665-670.

[10] 10. Loonen MCB, Van Diggelen OP, Janse HC, Kleijer WJ, Arts WFM. Late onset globoid cell leukodystrophy (Krabbe's disease) : clinical and genetic delineation of two forms and their relation to thearly infantile form. Neuropediatrics 1985, 16:137-142.

[11] 11. Lyon G, Jardin L, Aicardi J. Etude au microscope électronique d'un nerf périphérique dans un cas de leucodystrophie de Krabbe. J Neurol Sci 1971, 12:263-274.

[12] 12. Nowell MA, Grossman RI, Hackney DB, Zimmerman RA, Goldberg HI, Bilaniuk LT. MR imaging of white matter disease in children. Am J Roentgnol 1988, 151:359-365.

[13] 13. Phelps M, Aicardi J, Vanier MT. Late onset Krabbe's leukodystrophy: a report of four cases, J Neurol Neurosurg Psychiatr 1991, 54:292-296.

[14] 14. Suzuki K, Susuki Y. Globoid cell leukodystrophy (Krabbe's disease) : deficiency of ga-lacto-cerebroside-galactosidase. Proc Natl Acad Sei USA 1970, 66:302-309.

[15] 15. Susuki Y, Susuki K. Krabbe's globoid cell leukodystrophy: deficiency of galactocere-brosidadase in serum, leukocytes, and fibrolasts. Science 1971, 171:73-75.

[16] 16. Valk JL, Van Der Knaap MS. Magnetic resonance of myelin, myelination, and! myelin disorders. Berlin: Springer-Verlag. 1989, p 80.

[17] 17. Winants D, Bernard C, Galloy MA, Hoeffel JC, Vidailhet M. Scanographie et IRM de la maladie de Krabbe. J Radiol 1988, 69:697-700.