Skip to main content
PMC home page
Journal of Neurology, Neurosurgery, and Psychiatry logoLink to Journal of Neurology, Neurosurgery, and Psychiatry
. 1975 Feb;38(2):169–174. doi: 10.1136/jnnp.38.2.169

Peripheral neuropathy detected on electrophysiological study as first manifestation of metachromatic leucodystrophy in infancy.

A C Martinez, M T Ferrer, E Fueyo, L Galdos
PMCID: PMC491881  PMID: 1151398

Abstract

A case of infantile metachromatic leucodystrophy is described in which symptoms started at 1 year of age with weakness and hypotonus in the lower extremities. The electrophysiological status was typical of a polyneuropathy, showing fibrillation and a reduction of the nerve conduction velocity to 30 percent of the average for normal children of the same age. Clinical signs of a central lesion and mental regression were not evident until a year later. Nerve biopsy showed metachromatic granules in the phagocytes and in the Schwann cells, confirming the diagnosis of metachromatic leucodystrophy. In peripheral neuropathy in infancy without obvious cause, a nerve biopsy is the most appropriate method for diagnosis of the metachromatic leucodystrophy.

Full text

PDF
174

Images in this article

170Image
on p.170
171Image
on p.171

Selected References

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

  1. AUSTIN J. H. Metachromatic from of diffuse cerebral sclerosis. II. Diagnosis during life by isolation of metachromatic lipids from urine. Neurology. 1957 Oct;7(10):716–723. doi: 10.1212/wnl.7.10.716. [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. 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]
  4. 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]
  5. 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]
  6. Gamstorp I. Metabolic neuropathies and myopathies in infancy and childhood. Acta Neurol Scand. 1970;46(Suppl):109+–109+. doi: 10.1111/j.1600-0404.1970.tb02177.x. [DOI] [PubMed] [Google Scholar]
  7. Gamstorp I. Polyneuropathy in childhood. Acta Paediatr Scand. 1968 May;57(3):230–238. doi: 10.1111/j.1651-2227.1968.tb04683.x. [DOI] [PubMed] [Google Scholar]
  8. 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]
  9. HAGBERG B., SOURANDER P., THOREN L. Peripheral nerve changes in the diagnosis of metachromatic leucodystrophy. Acta Paediatr Suppl. 1962 Jun;135:63–71. doi: 10.1111/j.1651-2227.1962.tb08659.x. [DOI] [PubMed] [Google Scholar]
  10. Hogan G. R., Gutmann L., Chou S. M. The peripheral neuropathy of Krabbe's (globoid) leukodystrophy. Neurology. 1969 Nov;19(11):1094–1100. doi: 10.1212/wnl.19.11.1094. [DOI] [PubMed] [Google Scholar]
  11. Melchior J. C., Clausen J. Metachromatic leucodystrophy in early childhood. Treatment with a diet deficient in vitamin A. Acta Paediatr Scand. 1968 Jan;57(1):2–8. doi: 10.1111/j.1651-2227.1968.tb07276.x. [DOI] [PubMed] [Google Scholar]
  12. 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]
  13. Olsson Y., Sourander P. The reliability of the diagnosis of metachromatic leucodystrophy by peripheral nerve biopsy. Acta Paediatr Scand. 1969 Jan;58(1):15–24. doi: 10.1111/j.1651-2227.1969.tb04324.x. [DOI] [PubMed] [Google Scholar]
  14. Pilz H. Late adult metachromatic leukodystrophy. Arylsulfatase A activity of leukocytes in two families. Arch Neurol. 1972 Jul;27(1):87–90. doi: 10.1001/archneur.1972.00490130089013. [DOI] [PubMed] [Google Scholar]
  15. THIEFFRY S., LYON G. [Diagnosis of a case of metachromatic leucodystrophy (Scholz type) by biopsy of a peripheral nerve]. Rev Neurol (Paris) 1959 May;100:452–456. [PubMed] [Google Scholar]
  16. Taori G. M., Iyer G. V., Abraham J., Mammen K. C. Electrodiagnostic studies in lipidoses, mucopolysaccharidoses, and leukodystrophies. I. Nerve conduction and needle electromyographic studies. Neurology. 1971 Mar;21(3):303–306. doi: 10.1212/wnl.21.3.303. [DOI] [PubMed] [Google Scholar]
  17. 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]
  18. WEBSTER H. D. Schwann cell alterations in metachromatic leukodystrophy: preliminary phase and electron microscopic observations. J Neuropathol Exp Neurol. 1962 Oct;21:534–554. doi: 10.1097/00005072-196210000-00003. [DOI] [PubMed] [Google Scholar]
  19. 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 Journal of Neurology, Neurosurgery, and Psychiatry are provided here courtesy of BMJ Publishing Group

RESOURCES