The diagnosis of metachromatic leucodystrophy during life: metachromatic lipids in saliva and cerebrospinal fluid sediments and in the parotid glands

Canelas, Horacio M.; Escalante, Ovidio D.; Iriya, Kiyoshi; De Jorge, Francisco B.

doi:10.1590/S0004-282X1964000200003

Abstracts

The authors report the study of saliva sediment in 4 cases of juvenile metachromatic leucodystrophy belonging to the same family (and else in a sister of one of these cases presenting the characteristic neurological picture but with no metachromasia demonstrable by the Austin test in urine or by biopsies), in 6 normal relatives of the patients with Scholz disease, in 9 cases of various diseases of the nervous system, and in 10 normal subjects. The presence of metachromatic bodies staining in a pinkish red colour with acid blue toluidine dye was demonstrated in the saliva sediment of the 4 cases of metachromatic leucodystrophy. In 2 of these patients biopsies of the parotid gland, stained with cresyl violet dye, showed the presence of intracellular brownish metachromatic bodies. In these 2 cases the study of cerebrospinal fluid sediment also disclosed the presence of metachromatic bodies. Furthermore, a chromatographic qualitative test for metachromatic lipids yielded positive results in saliva, cerebrospinal fluid, and urine sediments. The conclusion was drawn that the search for metachromatic bodies in cerebrospinal fluid and mainly in saliva sediment may be of help in disclosing or ratifying the diagnosis of metachromatic leucodystrophy during life.

Os autores relatam o estudo do sedimento salivar em 4 casos de leucodistrofia metacromática juvenil pertencentes à mesma família (assim como em uma irmã de um dêstes casos, que apresentava o quadro neurológico característico, porém com ausência de metacromasia demonstrável pelo teste de Austin ou mediante biopsias), em 6 parentes normais dos pacientes com a moléstia de Scholz, em 9 casos de várias afecções do sistema nervoso, e em 10 indivíduos normais. A presença de corpúsculos metacromáticos corando-se em róseo com o azul de toluidina, foi demonstrada no sedimento salivar dos 4 casos de leucodistrofia metacromática. Em 2 dêstes pacientes, bicpsias da parótida, coradas com cresil violeta, demonstraram a presença de corpúsculos intracelulares com metacromasia em marrom. Nestes 2 casos também foram encontrados corpúsculos metacromáticos no sedimento do líquido cefalorraqueano. Além disso, um teste cromatográfico qualitativo para lípides metacromáticos forneceu resultados positivos na saliva, líquido cefalorraqueano e urina. Os autores concluem que a pesquisa de corpúsculos metacromáticos no líquido cefalorraqueano e principalmente no sedimento salivar pode contribuir para estabelecer ou ratificar o diagnóstico de leucodistrofia metacromática durante a vida.

The diagnosis of metachromatic leucodystrophy during life: metachromatic lipids in saliva and cerebrospinal fluid sediments and in the parotid glands

Diagnóstico intra vitam da leucodistrofia metacromática: lípides metacromáticos nos sedimentos da saliva e do líquido cefalorraqueano, e nas parótidas

Horacio M. Canelas^I; Ovidio D. Escalante^II; Kiyoshi Iriya^III; Francisco B. De Jorge^IV

^IAssistant professor; From the Departments of Neurology (Prof. A. Tolosa), Pathology (Prof. C. Mignone), and Medicine (Prof. A. B. U. Cintra) of the University of São Paulo School of Medicine

^IIFellow resident (El Salvador); From the Departments of Neurology (Prof. A. Tolosa), Pathology (Prof. C. Mignone), and Medicine (Prof. A. B. U. Cintra) of the University of São Paulo School of Medicine

^IIIAssistant of the Department of Pathology; From the Departments of Neurology (Prof. A. Tolosa), Pathology (Prof. C. Mignone), and Medicine (Prof. A. B. U. Cintra) of the University of São Paulo School of Medicine

^IVChief of the laboratory of the Department of Medicine; From the Departments of Neurology (Prof. A. Tolosa), Pathology (Prof. C. Mignone), and Medicine (Prof. A. B. U. Cintra) of the University of São Paulo School of Medicine

ABSTRACT

The authors report the study of saliva sediment in 4 cases of juvenile metachromatic leucodystrophy belonging to the same family (and else in a sister of one of these cases presenting the characteristic neurological picture but with no metachromasia demonstrable by the Austin test in urine or by biopsies), in 6 normal relatives of the patients with Scholz disease, in 9 cases of various diseases of the nervous system, and in 10 normal subjects. The presence of metachromatic bodies staining in a pinkish red colour with acid blue toluidine dye was demonstrated in the saliva sediment of the 4 cases of metachromatic leucodystrophy. In 2 of these patients biopsies of the parotid gland, stained with cresyl violet dye, showed the presence of intracellular brownish metachromatic bodies. In these 2 cases the study of cerebrospinal fluid sediment also disclosed the presence of metachromatic bodies. Furthermore, a chromatographic qualitative test for metachromatic lipids yielded positive results in saliva, cerebrospinal fluid, and urine sediments.

The conclusion was drawn that the search for metachromatic bodies in cerebrospinal fluid and mainly in saliva sediment may be of help in disclosing or ratifying the diagnosis of metachromatic leucodystrophy during life.

RESUMO

Os autores relatam o estudo do sedimento salivar em 4 casos de leucodistrofia metacromática juvenil pertencentes à mesma família (assim como em uma irmã de um dêstes casos, que apresentava o quadro neurológico característico, porém com ausência de metacromasia demonstrável pelo teste de Austin ou mediante biopsias), em 6 parentes normais dos pacientes com a moléstia de Scholz, em 9 casos de várias afecções do sistema nervoso, e em 10 indivíduos normais. A presença de corpúsculos metacromáticos corando-se em róseo com o azul de toluidina, foi demonstrada no sedimento salivar dos 4 casos de leucodistrofia metacromática. Em 2 dêstes pacientes, bicpsias da parótida, coradas com cresil violeta, demonstraram a presença de corpúsculos intracelulares com metacromasia em marrom. Nestes 2 casos também foram encontrados corpúsculos metacromáticos no sedimento do líquido cefalorraqueano. Além disso, um teste cromatográfico qualitativo para lípides metacromáticos forneceu resultados positivos na saliva, líquido cefalorraqueano e urina.

Os autores concluem que a pesquisa de corpúsculos metacromáticos no líquido cefalorraqueano e principalmente no sedimento salivar pode contribuir para estabelecer ou ratificar o diagnóstico de leucodistrofia metacromática durante a vida.

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Clinica Neurológica - Faculdade de Medicina da Universidade de São Paulo - Caixa Postal 3461 - São Paulo, Brasil

1. AUSTIN, J. H. - Metachromatic form of diffuse cerebral sclerosis. I: Diagnosis during life by urine sediment examination. Neurology, 7:415-426, 1957.
2. AUSTIN, J. H. - Metachromatic form of diffuse cerebral sclerosis. II: Diagnosis during life by isolation of metachromatic lipids from urine. Neurology, 7:716-723, 1937.
3. BRADLEY, J. L. - The relation of cellular elements of the saliva to caries. Oral Surg. 1:423-426, 1948.
4. CALONIUS, P. E. B. - The leukocyte count in saliva. Oral Surg. 11:43-46, 1958.
5. CANELAS, H. M.; ESCALANTE, O. D.; IRIYA, K.; De JORGE, F. B. - Leucodistrofia metacromática: estudo clinico-laboratorial de cinco casos na mesma família. Rev. paul. Med. 63:555-376, 1963.
6. DENNY-BROWN, D. E.; RICHARDSON, E. P., Jr.; COHEN, R. - Difficulty in walking and petit-mal attacks in a child. New Engl. J. Med. 267:1198-1204, 1962.
7. GILKERSON, S. W.; BROWN, H. F.; ROVELSTAD, G. H. - A microscopic study of the saliva sediment. J. dent. Res. 37:26-27, 195S.
8. HAGBERG, B.; SVENNERHOLM, L. - Laboratory diagnostic tests in metachromatic leucodystrophy. Acta paediat. (Uppsala) 48:632, 1959.
9. HAGBERG, B.; SVENNERHOLM, L. - Metachromatic leucodystrophy, a generalized lipidosis: determination of sulfatide in urine, blood plasma and cerebrospinal fluid. Acta paediat. (Uppsala) 49:690-694, 1960.
10. ISAACS, R.; DANELIAN, A. C. - Maintenance of leukocyte level and changes during irradiation: a study of the white blood corpusclles appearing In the saliva and their relation to those in the blood. Amer. J. med. Sci. 174:70-87, 1927.
11. RETTERER, E.; LELIÈVRE, A. - De la nature et de l'origine des corpuscules salivaires. C. r. Soc. Biol. (Paris), 74:667-670, 1913.
12. WATANABE, Y. - The effect of roentgen irradiation upon the cellular elements in the human saliva. Oral Surg. 4:89-107, 1951.

Publication Dates

Publication in this collection
21 Aug 2013
Date of issue
June 1964

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[1] 1. AUSTIN, J. H. - Metachromatic form of diffuse cerebral sclerosis. I: Diagnosis during life by urine sediment examination. Neurology, 7:415-426, 1957.

[2] 2. AUSTIN, J. H. - Metachromatic form of diffuse cerebral sclerosis. II: Diagnosis during life by isolation of metachromatic lipids from urine. Neurology, 7:716-723, 1937.

[3] 3. BRADLEY, J. L. - The relation of cellular elements of the saliva to caries. Oral Surg. 1:423-426, 1948.

[4] 4. CALONIUS, P. E. B. - The leukocyte count in saliva. Oral Surg. 11:43-46, 1958.

[5] 5. CANELAS, H. M.; ESCALANTE, O. D.; IRIYA, K.; De JORGE, F. B. - Leucodistrofia metacromática: estudo clinico-laboratorial de cinco casos na mesma família. Rev. paul. Med. 63:555-376, 1963.

[6] 6. DENNY-BROWN, D. E.; RICHARDSON, E. P., Jr.; COHEN, R. - Difficulty in walking and petit-mal attacks in a child. New Engl. J. Med. 267:1198-1204, 1962.

[7] 7. GILKERSON, S. W.; BROWN, H. F.; ROVELSTAD, G. H. - A microscopic study of the saliva sediment. J. dent. Res. 37:26-27, 195S.

[8] 8. HAGBERG, B.; SVENNERHOLM, L. - Laboratory diagnostic tests in metachromatic leucodystrophy. Acta paediat. (Uppsala) 48:632, 1959.

[9] 9. HAGBERG, B.; SVENNERHOLM, L. - Metachromatic leucodystrophy, a generalized lipidosis: determination of sulfatide in urine, blood plasma and cerebrospinal fluid. Acta paediat. (Uppsala) 49:690-694, 1960.

[10] 10. ISAACS, R.; DANELIAN, A. C. - Maintenance of leukocyte level and changes during irradiation: a study of the white blood corpusclles appearing In the saliva and their relation to those in the blood. Amer. J. med. Sci. 174:70-87, 1927.

[11] 11. RETTERER, E.; LELIÈVRE, A. - De la nature et de l'origine des corpuscules salivaires. C. r. Soc. Biol. (Paris), 74:667-670, 1913.

[12] 12. WATANABE, Y. - The effect of roentgen irradiation upon the cellular elements in the human saliva. Oral Surg. 4:89-107, 1951.