Adrenoleucodistrofia (leucodistrofia melanodermica): registro de um caso anatomo-clinico

Brotto, Mario Wilson Iervolino; Scaff, Milberto; Nobrega, José Paulo Smith; Cury, Conceição G.; Salum, Jamil; Canelas, Horacio Martins

doi:10.1590/S0004-282X1979000200008

Resumos

É relatado o caso de um paciente de 14 anos, do sexo masculino, com esclerose cerebral difusa precedida em 7 anos de sinais de insuficiência do córtex supra-renal, com antecedentes familiares. Clinicamente a doença é caracterizada por deterioração mental, distúrbios da marcha e da visão, associados com insuficiência do córtex supra-renal. Confirmando os dados da literatura, em nosso caso o estudo anátomo-patológico revelou desmielinização e gliose difusa na substância branca cerebral, poupando as fibras subcorticais. Células inflamatórias são comuns e têm distribuição perivascular. Na zona fasciculada e reticular da supra-renal, células "balonadas" são evidentes, muitas delas apresentando citoplasma vacuolizado e com estriações. Inclusões lipídicas similares têm sido encontradas nas células de Schwann dos nervos periféricos e dos testículos. Os achados são comparados com vinte casos da literatura.

The case of a 14-year-old boy with "diffuse cerebral sclerosis", preceded by signs of primary adrenal cortical insufficiency for 7 years with familiar antecedents is reported. This disorder, named adrenoleukodystrophy, has a sex-lin(ed recessive inheritance. The clinical picture is characterized by mental deterioration, gait disturbances, visual impairment, associated with primary adrenal cortical insufficiency. Confirming the data from literature, in our case the pathological study showed myelin degeneration and diffuse gliosis in the cerebral white matter, with no involvement of subcortical fibers. Inflammatory cells are common, and have a perivascular distribution. In the fasciculata and reticular zones of the adrenal gland, "baloon-shaped" cells are evident, most of them presenting a vacuolized and striated cytoplasm. Similar lipidic inclusions have been found in the Schwann cells of the peripheral nerves and testis. The findings are compared with twenty cases from the literature.

Adrenoleucodistrofia (leucodistrofia melanodermica): registro de um caso anatomo-clinico

Adrenoleukodystrophy (melanodermic leukodystrophy): report of a clinico-pathological case

Mario Wilson Iervolino Brotto^I; Milberto Scaff^I; José Paulo Smith Nobrega^I; Conceição G. Cury^II; Jamil Salum^II; Horacio Martins Canelas^I

^IDepartamento de Neuropsiquiatria (Divisão de Clínica Neurológica) da Faculdade de Medicina da Universidade de São Paulo

^IIDepartamento de Patologia da Faculdade de Medicina da Universidade de São Paulo

RESUMO

É relatado o caso de um paciente de 14 anos, do sexo masculino, com esclerose cerebral difusa precedida em 7 anos de sinais de insuficiência do córtex supra-renal, com antecedentes familiares. Clinicamente a doença é caracterizada por deterioração mental, distúrbios da marcha e da visão, associados com insuficiência do córtex supra-renal. Confirmando os dados da literatura, em nosso caso o estudo anátomo-patológico revelou desmielinização e gliose difusa na substância branca cerebral, poupando as fibras subcorticais. Células inflamatórias são comuns e têm distribuição perivascular. Na zona fasciculada e reticular da supra-renal, células "balonadas" são evidentes, muitas delas apresentando citoplasma vacuolizado e com estriações. Inclusões lipídicas similares têm sido encontradas nas células de Schwann dos nervos periféricos e dos testículos. Os achados são comparados com vinte casos da literatura.

SUMMARY

The case of a 14-year-old boy with "diffuse cerebral sclerosis", preceded by signs of primary adrenal cortical insufficiency for 7 years with familiar antecedents is reported. This disorder, named adrenoleukodystrophy, has a sex-lin(ed recessive inheritance. The clinical picture is characterized by mental deterioration, gait disturbances, visual impairment, associated with primary adrenal cortical insufficiency. Confirming the data from literature, in our case the pathological study showed myelin degeneration and diffuse gliosis in the cerebral white matter, with no involvement of subcortical fibers. Inflammatory cells are common, and have a perivascular distribution. In the fasciculata and reticular zones of the adrenal gland, "baloon-shaped" cells are evident, most of them presenting a vacuolized and striated cytoplasm. Similar lipidic inclusions have been found in the Schwann cells of the peripheral nerves and testis. The findings are compared with twenty cases from the literature.

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Trabalho dos Departamentos de Neuropsiquiatria (Divisão de Clínica Neurológica) e de Patologia da Faculdade de Medicina da Universidade de São Paulo.

Clínica Neurológica do Hospital das Clinicas - Faculdade de Medicina da Universidade de São Paulo - Caixa Postal 30.667 - 01000 São Paulo SP - Brasil.

1. AGUILAR, M. TJ.; O'BRIEN, J. S. & TAKER, P. - The syndrome of familial leukodistrophy, adrenal insufficiency and cutaneous melanosis. In S. M. Aronson & B. W., (eds.) - Inborn Errors of Sphinpolipd Metabolism. Pergamon Press, New York, 1967, pp 149-166.
2. ANNE, M. G. - Addison's disease and diffuse cerebral sclerosis J. Neurol. Neurosurg. Psychiat. (London) 32:344, 1963.
3. BLAW, M. E. - Melanoderma type leukodistrophy. In P. J., Vinken & G. W. Bruyn (eds.) - Handbook of Clinical Neurology, vol. 10. North-Holland, Amsterdam, 1970, pp 128-133.
4. BLAW, M. E.; OSTERBERG, K.; KOZAK, P. & NELSON, E. - Sudanophilic leucodystrophy and adrenal cortical atrophy. Arch. Neurol. (Chicago) 11:626, 1964.
5. BURTON, B. K. & NADLER, K. L. - X-linked Schilder's disease: a generalized disorder of cholesterol metabolism. Pediat. Res. (Basel) 8:170, 1974.
6. ERLAND, N.; OSTERBERG, K.; BLAW, M. E.; STORY, J. KOZAK, P. -Electron microscopic and histochemical studies in diffuse sclerosis (sudanophilic type). Neurology (Minneapolis) 12:896, 1962.
7. EVIATAR, L.; HARRIS, D. R. & MENKES, J. H. - Diffuse sclerosis and Addison's disease: biochemical studies on gray matter, white matter and myelin. Biochem. Med. (New York) 8:268, 1973.
8. GADO, M. H.; PHELPS, M. E. - An extravascular component of contrast enhancement in computed tomography: Contrast enhancement and the blood tissue barrier. Radiology (New York) 117:593, 1975.
9. GADO, M. H.; PHELPS, M. E. & GOLEMAN, R. E. - An extravascular component of contrast enhancement in computed tomography. The tissue blood ratio of contrast enhancement. Radiology (New York) 117:589, 1975.
10. GREENBERG, H. S.: HALVERSON, D. & LONE, B. - CT-scan and diagnosis of adrenoleucodystrophy. Neurology (Minneapolis) 27:884, 1977.
11. HOEFNAGEL, D.; BRUN, A.; INGBAR, S. H. & GOLDMAN, H. - Addison's disease and diffuse cerebral sclerosis. J. Neurol. Neurosurg. Psychiat. (London) 30:56, 1967.
12. HOEFNAGEL, D.; STANLEY, V. N. & SYDNEY, H. I. - Diffuse cerebral sclerosis with endocrine abnormalities in young males. Brain 85:553, 1962.
13. LICHTENSTEIN, B. W. & ROSENBLUTH, P. R. - Schilder's disease with melanoderma. J. Neuropath. Exp. Neurol. (New York) 18:384, 1959.
14. MENKES, J. H. & CORBO, L. M. - Adrenoleucodistrophy: accumulation of cholesterol esters with very long chain fatty acids. Neurology (Minneapolis) 27:928, 1977.
15. NICHOLAS, A. V. & ROBERT, Y. M. - Diffuse sclerosis with adrenal insufficiency. Neurology (Minneapolis) 18:1066, 1968.
16. POWERS, J. M. & SCHAUMBURG, H. H. - Adrenoleucodistrophy: similar ultrastructural changes in adrenal cortical and Schwann cells. Arch. Neurol. (Chicago) 30:406, 1974.
17. POWERS, J. M. & SCHAUMBURG, H. H. - Adrenoleukodistrophy (sex-linked Schilder's disease): a pathogenic hypothesis based on ultrastructural lesions in adrenal cortex, peripheral nerves and testis. Am. J. Path. (New York) 76:481, 1974.
18. SCHAUMBURG, H. H.; POWERS, J. M.; RAINE, C. S.; SUZUKI, K. & RICHARDSON, E. P. - Adrenoleukodystrophy: a clinical and pathological study of 17 cases. Arch. Neurol. (Chicago) 32:577, 1975.
19. SCHAUMBURG, H. H.; POWERS, M. J.: SUZUKI, K. & RAINE, C. S. -Adrenoleucodistrophy (sex-linked Schilder disease): ultrastructural demonstration of specific cytoplasmic inclusions in the central nervous system. Arch. Neurol. (Chicago) 31:120, 1974.
20. SCHAUMBURG, H. H.; RICHARDSON, E. P.; JOHNSON, P. C; COHEN, R. B.; POWERS, J. M. & RAINE, C. S. - Schilder's disease: sex-linked recessive transmission with specific adrenal changes. Arch. Neurol. (Chicago) 27:458, 1972.
21. SIEMERLING, E. & CREUTZFELDT, H. G. - Bronzkrankheit und sklerosierend Encephalomyelitis. Arch. Psychiat. Nervenkrank. 68:217, 1923.
22. SUZUKI, K. & GROVER, W. D. - Ultrastructural and biochemical studies of Schilder's disease. J. Neuropath. Exp. Neurol. 29:392, 1970.
23. YAVIN, E.; MILUNSKY, A. & LONG, S. R. - Cholesterol metabolism in cultured fibroblasts in adrenoleucodistrophy. Pediat. Res. (Basel) 10:540, 1976.

Datas de Publicação

Publicação nesta coleção
24 Ago 2012
Data do Fascículo
Jun 1979

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

[1] 1. AGUILAR, M. TJ.; O'BRIEN, J. S. & TAKER, P. - The syndrome of familial leukodistrophy, adrenal insufficiency and cutaneous melanosis. In S. M. Aronson & B. W., (eds.) - Inborn Errors of Sphinpolipd Metabolism. Pergamon Press, New York, 1967, pp 149-166.

[2] 2. ANNE, M. G. - Addison's disease and diffuse cerebral sclerosis J. Neurol. Neurosurg. Psychiat. (London) 32:344, 1963.

[3] 3. BLAW, M. E. - Melanoderma type leukodistrophy. In P. J., Vinken & G. W. Bruyn (eds.) - Handbook of Clinical Neurology, vol. 10. North-Holland, Amsterdam, 1970, pp 128-133.

[4] 4. BLAW, M. E.; OSTERBERG, K.; KOZAK, P. & NELSON, E. - Sudanophilic leucodystrophy and adrenal cortical atrophy. Arch. Neurol. (Chicago) 11:626, 1964.

[5] 5. BURTON, B. K. & NADLER, K. L. - X-linked Schilder's disease: a generalized disorder of cholesterol metabolism. Pediat. Res. (Basel) 8:170, 1974.

[6] 6. ERLAND, N.; OSTERBERG, K.; BLAW, M. E.; STORY, J. KOZAK, P. -Electron microscopic and histochemical studies in diffuse sclerosis (sudanophilic type). Neurology (Minneapolis) 12:896, 1962.

[7] 7. EVIATAR, L.; HARRIS, D. R. & MENKES, J. H. - Diffuse sclerosis and Addison's disease: biochemical studies on gray matter, white matter and myelin. Biochem. Med. (New York) 8:268, 1973.

[8] 8. GADO, M. H.; PHELPS, M. E. - An extravascular component of contrast enhancement in computed tomography: Contrast enhancement and the blood tissue barrier. Radiology (New York) 117:593, 1975.

[9] 9. GADO, M. H.; PHELPS, M. E. & GOLEMAN, R. E. - An extravascular component of contrast enhancement in computed tomography. The tissue blood ratio of contrast enhancement. Radiology (New York) 117:589, 1975.

[10] 10. GREENBERG, H. S.: HALVERSON, D. & LONE, B. - CT-scan and diagnosis of adrenoleucodystrophy. Neurology (Minneapolis) 27:884, 1977.

[11] 11. HOEFNAGEL, D.; BRUN, A.; INGBAR, S. H. & GOLDMAN, H. - Addison's disease and diffuse cerebral sclerosis. J. Neurol. Neurosurg. Psychiat. (London) 30:56, 1967.

[12] 12. HOEFNAGEL, D.; STANLEY, V. N. & SYDNEY, H. I. - Diffuse cerebral sclerosis with endocrine abnormalities in young males. Brain 85:553, 1962.

[13] 13. LICHTENSTEIN, B. W. & ROSENBLUTH, P. R. - Schilder's disease with melanoderma. J. Neuropath. Exp. Neurol. (New York) 18:384, 1959.

[14] 14. MENKES, J. H. & CORBO, L. M. - Adrenoleucodistrophy: accumulation of cholesterol esters with very long chain fatty acids. Neurology (Minneapolis) 27:928, 1977.

[15] 15. NICHOLAS, A. V. & ROBERT, Y. M. - Diffuse sclerosis with adrenal insufficiency. Neurology (Minneapolis) 18:1066, 1968.

[16] 16. POWERS, J. M. & SCHAUMBURG, H. H. - Adrenoleucodistrophy: similar ultrastructural changes in adrenal cortical and Schwann cells. Arch. Neurol. (Chicago) 30:406, 1974.

[17] 17. POWERS, J. M. & SCHAUMBURG, H. H. - Adrenoleukodistrophy (sex-linked Schilder's disease): a pathogenic hypothesis based on ultrastructural lesions in adrenal cortex, peripheral nerves and testis. Am. J. Path. (New York) 76:481, 1974.

[18] 18. SCHAUMBURG, H. H.; POWERS, J. M.; RAINE, C. S.; SUZUKI, K. & RICHARDSON, E. P. - Adrenoleukodystrophy: a clinical and pathological study of 17 cases. Arch. Neurol. (Chicago) 32:577, 1975.

[19] 19. SCHAUMBURG, H. H.; POWERS, M. J.: SUZUKI, K. & RAINE, C. S. -Adrenoleucodistrophy (sex-linked Schilder disease): ultrastructural demonstration of specific cytoplasmic inclusions in the central nervous system. Arch. Neurol. (Chicago) 31:120, 1974.

[20] 20. SCHAUMBURG, H. H.; RICHARDSON, E. P.; JOHNSON, P. C; COHEN, R. B.; POWERS, J. M. & RAINE, C. S. - Schilder's disease: sex-linked recessive transmission with specific adrenal changes. Arch. Neurol. (Chicago) 27:458, 1972.

[21] 21. SIEMERLING, E. & CREUTZFELDT, H. G. - Bronzkrankheit und sklerosierend Encephalomyelitis. Arch. Psychiat. Nervenkrank. 68:217, 1923.

[22] 22. SUZUKI, K. & GROVER, W. D. - Ultrastructural and biochemical studies of Schilder's disease. J. Neuropath. Exp. Neurol. 29:392, 1970.

[23] 23. YAVIN, E.; MILUNSKY, A. & LONG, S. R. - Cholesterol metabolism in cultured fibroblasts in adrenoleucodistrophy. Pediat. Res. (Basel) 10:540, 1976.