Skip to main content
NCBI home page
Archives of Disease in Childhood logoLink to Archives of Disease in Childhood
. 1982 Mar;57(3):168–175. doi: 10.1136/adc.57.3.168

Metachromatic leucodystrophy: review of 38 cases.

R MacFaul, N Cavanagh, B D Lake, R Stephens, A E Whitfield
PMCID: PMC1627607  PMID: 7073297

Abstract

Clinical and laboratory features of 38 children suffering from metachromatic leucodystrophy (MLD) are reported. Twenty-four children with the late infantile form of MLD presented between ages 6 and 25 (mean 17) months with a delay or deterioration in walking, followed by a general loss of abilities. There was severe handicap by age 3 years and death occurred between 5 months and 8 years after presentation. Neurological signs at the time of diagnosis were varied. Motor nerve conduction velocity was slowed in the 18 children tested. The disease became evident at a later age in 14 children. One boy presented at 13 years, while in the remainder there appeared to be two clinical patterns of the disease which could be termed (1) early juvenile or intermediate and (2) juvenile MLD. In 7 children with early juvenile or intermediate MLD a gait disorder developed between ages 4 and 6 (mean 5) years. This was accompanied in 4 children, and followed between 8 and 26 months later in the remaining 3, by loss of other abilities. Neurological signs were varied. Motor nerve conduction velocity was slowed in 2 of the 5 patients tested. Six children with juvenile MLD presented between ages 6 and 10 years with educational or behavioural difficulties. Motor disorders arose from 6 months to 4 years later. Neurological signs at the time of diagnosis, although mixed, were predominantly extrapyramidal and motor nerve conduction velocity was slowed in 2 of the 3 children tested. In the early juvenile form of MLD, progression of the disease was slower than in the late infantile form and death occurred between 31/2 and 18 years after presentation. Only one-third of patients had fits and these tended to be a late feature.

Full text

PDF
168

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. AUREBECK G., OSTERBERG K., BLAW M., CHOU S., NELSON E. ELECTRON MICROSCOPIC OBSERVATIONS ON METACHROMATIC LEUKODYSTROPHY. Arch Neurol. 1964 Sep;11:273–288. doi: 10.1001/archneur.1964.00460210051005. [DOI] [PubMed] [Google Scholar]
  2. Aziz H., Pearce J. Peripheral neuropathy in metachromatich leucodystrophy. Br Med J. 1968 Nov 2;4(5626):300–300. doi: 10.1136/bmj.4.5626.300. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. BODIAN M., LAKE B. D. THE RECTAL APPROACH TO NEUROPATHOLOGY. Br J Surg. 1963 Jul;50:702–714. doi: 10.1002/bjs.18005022507. [DOI] [PubMed] [Google Scholar]
  4. BRAIN W. R., GREENFIELD J. G. Late infantile metachromatic leuco-encephalopathy, with primary degeneration of the interfascicular oligodendroglia. Brain. 1950;73(3):291–317. doi: 10.1093/brain/73.3.291. [DOI] [PubMed] [Google Scholar]
  5. Beratis N. G., Aaron A. M., Hirschhorn K. Metachromatic leukodystrophy: detection in serum. J Pediatr. 1973 Nov;83(5):824–827. doi: 10.1016/s0022-3476(73)80377-4. [DOI] [PubMed] [Google Scholar]
  6. Clark J. R., Miller R. G., Vidgoff J. M. Juvenile-onset metachromatic leukodystrophy: biochemical and electrophysiologic studies. Neurology. 1979 Mar;29(3):346–343. doi: 10.1212/wnl.29.3.346. [DOI] [PubMed] [Google Scholar]
  7. Corbett J., Harris R. Progressive disintegrative psychosis of childhood. J Child Psychol Psychiatry. 1977 Aug;18(3):211–219. doi: 10.1111/j.1469-7610.1977.tb00433.x. [DOI] [PubMed] [Google Scholar]
  8. Dayan A. D. Peripheral neuropathy of metachromatic leucodystrophy: observations on segmental demyelination and remyelination and the intracellular distribution of sulphatide. J Neurol Neurosurg Psychiatry. 1967 Aug;30(4):311–318. doi: 10.1136/jnnp.30.4.311. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. De Silva K. L., Pearce J. Neuropathy of metachromatic leucodystrophy. J Neurol Neurosurg Psychiatry. 1973 Feb;36(1):30–33. doi: 10.1136/jnnp.36.1.30. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Dubois G., Turpin J. C., Baumann N. Arylsulfatases isoenzymes in metachromatic leucodystrophy/detection of a new variant by electrophoresis improvement of quantitative assay. Biomedicine. 1975 Apr 10;23(3):116–119. [PubMed] [Google Scholar]
  11. FULLERTON P. M. PERIPHERAL NERVE CONDUCTION IN METACHROMATIC LEUKODYSTROPHY (SULPHATIDE LIPIDOSIS). J Neurol Neurosurg Psychiatry. 1964 Apr;27:100–105. [PMC free article] [PubMed] [Google Scholar]
  12. Fluharty A. L., Stevens R. L., Kihara H. Cerebroside sulfate hydrolysis by fibroblasts from a parent with metachromatic leukodystrophy. J Pediatr. 1978 May;92(5):782–784. doi: 10.1016/s0022-3476(78)80153-x. [DOI] [PubMed] [Google Scholar]
  13. Gabreëls F., Lamers K., Kok J., Loonen M., Lommen E. The biochemical differentiation between heterozygote carriers of metachromatic leucodystrophy and normal persons. Neuropadiatrie. 1971 Apr;2(4):461–469. doi: 10.1055/s-0028-1091795. [DOI] [PubMed] [Google Scholar]
  14. Grégoire A., Périer O., Dustin P., Jr Metachromatic leukodystrophy, an electron microscopic study. J Neuropathol Exp Neurol. 1966 Oct;25(4):617–636. doi: 10.1097/00005072-196610000-00008. [DOI] [PubMed] [Google Scholar]
  15. Gustavson K. H., Hagberg B. The incidence and genetics of metachromatic leucodystrophy in northern Sweden. Acta Paediatr Scand. 1971 Sep;60(5):585–590. doi: 10.1111/j.1651-2227.1971.tb06994.x. [DOI] [PubMed] [Google Scholar]
  16. Haberland C., Brunngraber E., Witting L., Daniels A. Juvenile metachromatic leucodystrophy. Case report with clinical, histopathological, ultrastructural and biochemical observations. Acta Neuropathol. 1973 Oct 11;26(2):93–106. doi: 10.1007/BF00697745. [DOI] [PubMed] [Google Scholar]
  17. Hagberg B. Clinical aspects of globoid cell and metachromatic leukodystrophies. Birth Defects Orig Artic Ser. 1971 Feb;7(1):103–112. [PubMed] [Google Scholar]
  18. Hirose G., Bass N. H. Metachromatic leukodystrophy in the adult. A biochemical study. Neurology. 1972 Mar;22(3):312–320. doi: 10.1212/wnl.22.3.312. [DOI] [PubMed] [Google Scholar]
  19. Jatzkewitz H., Mehl E. Cerebroside-sulphatase and arylsulphatase A deficiency in metachromatic leukodystrophy (ML). J Neurochem. 1969 Jan;16(1):19–28. doi: 10.1111/j.1471-4159.1969.tb10339.x. [DOI] [PubMed] [Google Scholar]
  20. Martinez A. C., Ferrer M. T., Fueyo E., Galdos L. Peripheral neuropathy detected on electrophysiological study as first manifestation of metachromatic leucodystrophy in infancy. J Neurol Neurosurg Psychiatry. 1975 Feb;38(2):169–174. doi: 10.1136/jnnp.38.2.169. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Mastropaolo C., Pampiglione G., Stephens R. E.E.G. studies in 22 children with sulphatide lipidosis (metachromatic leucodystrophy). Dev Med Child Neurol. 1971 Feb;13(1):20–31. doi: 10.1111/j.1469-8749.1971.tb03028.x. [DOI] [PubMed] [Google Scholar]
  22. Menkes J. H. Chemical studies of two cerebral biopsies in juvenile metachromatic leukodystrophy: the molecular composition of cerebrosides and sulfatides. J Pediatr. 1966 Sep;69(3):422–431. doi: 10.1016/s0022-3476(66)80087-2. [DOI] [PubMed] [Google Scholar]
  23. Moosa A., Dubowitz V. Late infantile metachromatic leucodystrophy. Effect of low vitamin A diet. Arch Dis Child. 1971 Jun;46(247):381–383. doi: 10.1136/adc.46.247.381. [DOI] [PMC free article] [PubMed] [Google Scholar]
  24. Percy A. K., Kaback M. M. Infantile and adult-onset metachromatic leukodystrophy. Biochemical comparisons and predictive diagnosis. N Engl J Med. 1971 Sep 30;285(14):785–787. doi: 10.1056/NEJM197109302851407. [DOI] [PubMed] [Google Scholar]
  25. Pilz H., Hopf H. C. A preclinical case of late adult metachromatic leukodystrophy? Manifestation only with lipid abnormalities in urine, enzyme deficiency and decrease of nerve conduction velocity. J Neurol Neurosurg Psychiatry. 1972 Jun;35(3):360–364. doi: 10.1136/jnnp.35.3.360. [DOI] [PMC free article] [PubMed] [Google Scholar]
  26. Poduslo S. E., Tennekoon G., Price D., Miller K., McKhann G. M. Fetal metachromatic leukodystrophy: pathology, biochemistry and a study of in vitro enzyme replacement in CNS tissue. J Neuropathol Exp Neurol. 1976 Nov-Dec;35(6):622–632. doi: 10.1093/jnen/35.6.622. [DOI] [PubMed] [Google Scholar]
  27. Schutta H. S., Pratt R. T., Metz H., Evans K. A., Carter C. O. A family study of the late infantile and juvenile forms of metachromatic leucodystrophy. J Med Genet. 1966 Jun;3(2):86–91. doi: 10.1136/jmg.3.2.86. [DOI] [PMC free article] [PubMed] [Google Scholar]
  28. Tasker W., Chutorian A. M. Chronic polyneuritis of childhood. J Pediatr. 1969 May;74(5):699–708. doi: 10.1016/s0022-3476(69)80132-0. [DOI] [PubMed] [Google Scholar]
  29. Warner J. O. Juvenile onset metachromatic leucodystrophy. Failure of response on a low vitamin A diet. Arch Dis Child. 1975 Sep;50(9):735–737. doi: 10.1136/adc.50.9.735. [DOI] [PMC free article] [PubMed] [Google Scholar]
  30. Yudell A., Gomez M. R., Lambert E. H., Dockerty M. B. The neuropathy of sulfatide lipidosis (metachromatic leukodystrophy). Neurology. 1967 Feb;17(2):103–passim. doi: 10.1212/wnl.17.2.103. [DOI] [PubMed] [Google Scholar]

Articles from Archives of Disease in Childhood are provided here courtesy of BMJ Publishing Group

RESOURCES