SciELO - Scientific Electronic Library Online

vol.38 issue3Diagnostic value of macrophages in the cerebrospinal fluidComputer assisted tomography in lateral and prone position in the differencial diagnosis between brain atrophy and subdural colections author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand




Related links


Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

Arq. Neuro-Psiquiatr. vol.38 no.3 São Paulo Sept. 1980 

Leucodistrofia metacromatica: relato de dois casos com histoquimica de nervos e musculos


Metachromatic leukodistrophy: report of two cases with histochemistry of nerves and muscles



Lineu Cesar WerneckI; José Luiz Pinto PereiraII; Isac BruckIII

IProfessor Assistente de Neurologia. Departamento de Clínica Médica, da Universidade Federal do Paraná (Curitiba, PR)
IIMédico Residente de Neurologia. Departamento de Clínica Médica, da Universidade Federal do Paraná (Curitiba, PR)
IIIProfessor Assistente de Neuropediatria, do Departamento de Pediatria. Departamento de Clínica Médica, da Universidade Federal do Paraná (Curitiba, PR)




Relato de dois casos de leucodistrofia metacromática, forma infantil tardia, em um paciente do sexo feminino e outro do masculino, que se desenvolveram normalmente nos primeiros anos de vida e que lentamente passaram a apresentar dificuldades para deambular, retardo mental e motor progressivo, sinais de envolvimento de tratos longos e sobrevivendo em forma vegetativa. A investigação revelou sinais de denervação nos músculos estudados. A velocidade de condução nervosa motora estava muito reduzida, não apresentavam qualquer atividade de arilsulfatase A na urina, possuiam grânulos metacromáticos na biópsia de nervos periféricos, tinham atrofia de fibras do tipo 1 na biópsia muscular e presença de material metacromático nos filetes nervosos intramusculares. É realizada revisão sobre a transmissão da doença, patogenia, métodos de diagnóstico e formas variantes.


Two cases of metachromatic leukodistrophy, of the late infantile form are reported. The patients were a girl and a boy of 2 years 10 months old, with initial normal development, but by the age of 18 months began with gait disturbances, difficulty to speak and developed progressive mental deteriotation, with signs of long tract involvement, abscence of deep tendon reflexes, spasticity, blindness, muscle atrophy and finished in a vegetative state. The diagnosis was made by electromiography (signs of denervation), motor nerve conduction velocity (very decreased), assay of arylsulfatase A in the urine (absence of activity), sural nerve biopsy (demielinization and presence of metachromatie granules by the cresyl-violet and toluidine blue) and muscle biopsy (atrophy of type I fibers and presence of metachromatic material in the intramuscular nerve fibers). A quick revision about diagnostic methods, transmission, pathogenesis and variant forms is made.



Texto completo disponível apenas em PDF.

Full text available only in PDF format.




1. ALLEN, R. J.; McCUSKER, J. & TOURTELLOTTE, W. - Metachromatic leukodystrophy: clinical, histochemical and cerebrospinal fluid abnormalities. Pediatrics 30:629, 1962.         [ Links ]

2. AUREBECK. G.; OSTERBERG, K.; BLAW, M.; CHOU, S. & NELSON, E. - Electron microscopic observations on metachromatic leukodystrophy. Arch. Neurol. (Chicago) 11:273, 1964.         [ Links ]

3. AUSTIN, J. H. - Metachromatic form of diffuse cerebral sclerosis: diagnosis during life by isolation of metachromatic lipids from urine. Neurology (Minneapolis) 7:716, 1957.         [ Links ]

4. AUSTIN, J. H. - Metachromatic form of diffuse cerebral sclerosis: significance of sulfatide and other lipid abnormalities in white matter and kidney. Neurology (Minneapolis) 10:470, 1960.         [ Links ]

5. AUSTIN: J. H.; ARMSTRONG, D. & BISCHEL. M. - Patterns of sulphatase deficiency in 4 patients with metachromatic leukodystrophy: histochemical and biochemical correlations. J. Neuropath. Exp. Neurol. 25:139, 1966.         [ Links ]

6. AUSTIN, J. H.: ARMSTRONG, D.; FOUCH. S.: MITCHELL, D.; STUMPF, D.; SHEARES, L. & BRINER, O. - Metachromatic leukodystrophy in adults: diagnosis and pathogenesis. Arch. Neurol. (Chicago) 18:225, 1968.         [ Links ]

7. AUSTIN, J. H.; ARMSTRONG, D.; SHEARRER, L. & McAFEE, D. - The metachromatic form of diffuse cerebral sclerosis: the nature and significance of low sulfatase activity: a controlled study of brain, liver and kidneys in four patients with metachromatic leukodystrophy. Arch. Neurol. (Chicago) 13:593, 1965.         [ Links ]

8. AUSTIN, J. H.; ARMSTRONG, D.; SHEARER, L. & McAFEE, D - Metachromatic form of diffuse cerebral sclerosis: a rapid test for the sulfatase A deficiency in M.L.D. urine. Arch. Neurol. (Chicago) 14:259, 1966.         [ Links ]

9. AUSTIN, J. H. BALASUBRAMANIAN, A. S.; RATTABIRAMAN, T. N.; SARAWATHI, S.: BASU, D. K. & BACHHAWAT, B. K. - A controlled study of enzymic activities in three human disorders of glycolipid metabolism. J. Neurochem. 10: 805, 1963.         [ Links ]

10. AUSTIN, J. H.: McAFEE, D. & SHEARER, L. - The metachromatic form of diffuse cerebral sclerosis: low sulfatase activity in the urine of nine living patients with metachromatic leukodystrophy. Arch. Neurol. (Chicago) 12:447, 1965.         [ Links ]

11. BASS. N. H.: WITMER, E. J. & DREIFUSS, F. E. - A pedigree study of metachromatic leukodystrophy: biochemical identification of the carrier state. Neurology (Minneapolis) 20:52, 1970.         [ Links ]

12. BAUM, H.: DODGSON, K. S. & SPENCER, B. - The assay of arysulphatase A and B in human urine. Clin. Chim. Acta 4:458, 1959.         [ Links ]

13. BERATIS, N. C: DANESINO, C. & HIRSCHHORN, K. - Detection of homozigotes and heterozygotes for metachromatic leukodystrophy in limphoid cell lines and peripheral leukocytes. Ann. Hum. Genet. (London) 38:485, 1975.         [ Links ]

14. BERATIS, N. G.; FLEICHER, L. D.; DANESINO, C. & HIRSCHHORN, K. - Arylsulphatase A deficiency in bone marrow fibroblasts of two different forms os metachromatic leukodystrophy. J. Lab. Clin. Med. 84:49, 1974.         [ Links ]

15. BETTS, T. A.; SMITH, W. T. & KELLY, R. E. - Adult metachromatic leukodystrophy (sulphatide lipidosis) simulating acute schizophrenia. Neurology (Minneapolis) 18:1140, 1968.         [ Links ]

16. BISCHEL, M. AUSTIN, J. H. & KEMENY, M. - Metachromatic leukodystrophy: elevated sulfated acid polysaccharide levels in urine and post-mortem tissues. Arch. Neurol. (Chicago) 15:13, 1966.         [ Links ]

17. BLOM, S. & HAGBERG, B. - EEG findings in late infantile metachromatic and globoid cell leucodystrophy. Electroenceph. Clin. Neurophysiol. 22:253, 1967.         [ Links ]

18. BORRESEN, A. L. - Metachromatic leukodystrophy: pre-natal diagnosis. Helv. aediat. Acta 30:553, 1975.         [ Links ]

19. BOSCH, E. P. & HART, M. - Late adult-onset metachromatic leukodystroph: demencia and polineuropathy in a 63-years old man. Arch. Neurol. (Chicago) 35:475, 1978.         [ Links ]

20. BRAIN, W. R. & GREENFIELD, J. G. - Late infantile metachromatic leuco-encephalopathy with primary degeneration of the interfascicular oligodendroglia. Brain 73:291, 1950.         [ Links ]

21. BUONANNO, F. S.; BALL, M. R.; LASTER, D. W.; MOODY, D. M. & McLEAN, W. T. - Computed tomography in late-infantile metachromatic leukodystrophy. Ann. Neurol. 4:43, 1978.         [ Links ]

22. BUTTERWORTH, J.; BROADHEAD, D. M. & KEAY, A. J. - Low arylsulphatase A activity in a family without metachromatic leukodystrophy. Clin. Gent. 14:213. 1978.         [ Links ]

23. CANELAS, H. M.; ESCALANTE, O. D.; IRIYA, K. & JORGE, F. B. - The diagnosis of metachromatic leudodystrophy during life: metachromatic lipids in saliva and cerebrospinal fluid sediments and in the parotid glands. Arq. Neuro-Psiquiatr. (São Paulo) 22:122, 1964.         [ Links ]

24. DAYAN, A. D. - Peripheral neuropathy of metachromatic leucodystrophy:: observations on segmental demyelination and remyelination and the intracellular distribution of sulphatide. J. Neurol. Neurosurg. Psychiat. 30:311, 1967.         [ Links ]

25. DUBOIS, G.; HARZER, K. & BAUMANN, N. - Very low arylsulfatase A and cerebriside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family. Am. J. Hum. Genet. 29:191, 1977.         [ Links ]

26. ESCALANTE, O. D.; AMARAL, A. D. & CANELAS, H. D. - Metachromatic leucodystrophy: study of the free amino aoids in blood, urine, saliva and cerebrospinal fluid. Arq. Neuro-Psiquiat. (São Paulo) 22:195, 1964.         [ Links ]

27. ETO, Y.; WIESMANN, U. N.; CARSON, J. H. & HERSCHKOWITZ, N. - Multiple sulfatase deficiencies in cultured skin fibroblasts: Ocurrence in patient with a variant form of metachromatic leukodystrophy. Arch. Neurol. (Chicago) 30:153, 1974.         [ Links ]

28. FOGELSON, H.; GONATAS, N.; RORKE, L. B. & SPIRO, A. - Oligodendroglial lamellar inclusions in a probable variant of metachromatic leukodystrophy. Arch. Neurol. (Chicago) 19:150, 1968.         [ Links ]

29. FULLERTON, P. M. - Peripheral nerve conduction in metachromatic leukodystrophy (sulphatide lipidosis). J. Neurol. Neurosurg. Psychiat. 27:100, 1964.         [ Links ]

30. GOEBEL, H. H.: SHIMOKAWA, K.; ARGYRAKIS, A. & PILZ, H. - The ultras-tructure of the retina in adult metachromatic leukodystrophy. Am. J. Ophthalmol. 85:841, 1978.         [ Links ]

31. GREENE, H.; HUG, G. & SHUBERT, W. - Aryleulfatase-A in the urine and metachromatic leukodystrophy. J. Pediatr. 71:709, 1967.         [ Links ]

32. GREENE, H. L.; HUG, G. & SHUBERT, W. K. - Metachromatic leukodystrophy: treatment with arylsulfatase A. Arch. Neurol. (Chicago) 20:147, 1969.         [ Links ]

33. GREENFIELD, J. G. - A form of progressive cerebral sclerosis in infants associated with primary degeneration of the interfascicular glia. J. Neurol. Psychopath. 13:289, 1933.         [ Links ]

34. GUSCO, A; DEAK, G. & SZIRMAI, I. - An adult case of metachromatic leukodystrophy: light, polarization and electron microscopic study. Acta Neuropath. (Berlin) 32:333, 1976.         [ Links ]

35. HAGBERG, B.; SOURANDER. P. & HOLM, L. S. - Sulfatide lipidosis in childhood: report of a case investigated during life and at autopsy. Amer. J. Dis. Child. 104:644, 1962.         [ Links ]

36. JATZKEWITZ, H. & MHEL. E. - Cérebro side-sulphatase and arylsulphatase A deficiency in metachromatic leukodystrophy J. Neurochem. 16:19, 1969.         [ Links ]

37. LAKE. B. D. - A reliable rapid screening test for sulphatide lipidosis. Arch. Die. Childh. 40:284, 1965.         [ Links ]

38. MARTIN, J. J. & JORIS. C. - The sciatic nerve in juvenile metachromatic leukodystrophy: a quantitative evaluation. Acta Neurol. Belg. 73:175, 1973.         [ Links ]

39. MASTERS. P. L.; MACDONALD. W. B.: RYAN. M. M. P. & CUMINGS, J. N. - Familial leukodystrophy. Arch. Dis. Childh. 39:345, 1964.         [ Links ]

40. MEHL. E. & JATZKEWITZ. H. - Ueber ein Cerebrostd - eschweMfwureester spaltendes Enzyn aus Schweineniere. Hoppe Seyler Z. Physiol. Chem. 331:292, 1963.         [ Links ]

41. NORMAN. R. M. - Diffuse progressive metachromatic leucoencenhalopathy: form of Shilders's disease related to the lipidoses. Brain 22:234, 1947.         [ Links ]

42. NORMAN, R. M.: URICH. H. & TINGEY, A. H. - Metachromatic leucoencephalopathy: form of lipidosis. Brain 83:369, 1960.         [ Links ]

43 OLSSON, Y. & SOURANDER, P. - The reliability of the diagnosis of metachromatic leukodystrophy by peripheral nerve biopsy. Acta Paediat. Scand. 58:15, 1969.         [ Links ]

44. PERCY, A. K.; KABACK, M. M. & HERNDON, R. N. - Metachromatic leukodystrophy: comparison of early and late onset forms. Neurology (Minneapolis) 27:933, 1977.         [ Links ]

45. PODUSLO, S. E.; TENNEKOON, G.; PRICE, D.; MILLER, K.; & McKHANN, G. M. - Fetal metachromatic leukodystrouhy: pathology, biochemistry and a study of in vitro enzyme replacement in central nervous system tissue. J. Neuropathol. Exp. Neurol. 35:622, 1976.         [ Links ]

46. POSER, C. M. - Diseases of the myelin sheath. In Merrit, H. H. - A Textbook of Neurology, 5th ed., Lea & Febiger, Philadephia, 1975.         [ Links ]

47. QUIGLEY, H. A. & GREEN, R. - Clinical and ultrastructural ocular histopathologic studies of adult-onset metachromatic leukodystrophy. Am. J. Ophthalmol. 82:479, 1976.         [ Links ]

48. RAYNAUD, E. J.; ESCOURALLE, R.; BAUMANN, N.; TURPIN, J. C; DUBOIS, G.; MALPUECH, G. & LAGARDE, R. - Metachromatic leukodystrophy: ultrastructural and enzymatic study of a case of variant O form. Arch. Neurol. (Chicago) 32:834, 1975.         [ Links ]

49. ROSSI, L. N.; VASSELLA, P.; BISCHOFF, A.; WIESMANN, U. & HERSCHKOWITZ, N. - Late infantile metachromatic leucodystroph: clinical and diagnostic evaluation in a typical case. J. Neurol. 210:291, 1975.         [ Links ]

50. SUZUKI, K.; SUZUKI, K. & CHEN, G. - Metachromatic leucodystrophy: isolation and chemical analysis of metachromatic granules. Science 151:1231, 1966.         [ Links ]

51. SUZUKI, K.; SUZUKI, K. & CHEN, G. C. - Isolation and chemical characterization of metachromatic granules from a brain with metachromatic leucodystrophy. J. Neuropath. Exp. Neurol. 26:537, 1967.         [ Links ]

52. TERRY, R. D.; SUZUKI, K. & WEISS. - Biopsy study in 3 cases of metachromatic leucodystrophy. J. Neuropath. Exp. Neurol. 25:141, 1966.         [ Links ]

53. THOMAS, P. K.; KING, R. H. M.; KOCEN, R. S. & BRET, E. M. - Comparative ultrastructural observations on peripheral abnormalities in the late infantile, juvenile and late onset forms of metachromatic leukodystrophy. Acta Neuropath. (Berlin). 39:237, 1977.         [ Links ]

54. WERNER, J. O. - Juvenile onset metachromatic leukodystrophy: failure of response on a low vitamin A diet. Arch. Dis. Child. 50:735, 1975.         [ Links ]

55. WIESMANN, U. N.; MEIER, C; SPYCHER, M. A.; BISCHOFF, A. GAUTIER, HERSCHKOWITZ, N. - Prenatal metachromatic leukodystrophy. Hev. Paediat. Acta 30:31, 1975.         [ Links ]



Trabalho realizado na Disciplina de Neurologia, do Departamento de Clínica Médica, da Universidade Federal do Paraná (Curitiba, PR).
Disciplina de Neurologia - Departamento de Clínica Médica da Universidade Federal do Paraná - Hospital de Clínicas - Rua General Carneiro 180 - 80000 Curitiba, PR - Brasil.

Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License