Metachromatic leukodystrophy: On an atypical case
Tóm tắt
We describe an atypical case of juvenile metachromatic leukodystrophy. Motor conduction velocity was still within the normal range 3 years after clinical onset, in contrast to what is commonly found in this disease. Another unusual feature is the normal level of CSF protein. These data are discussed in the light of the sural nerve biopsy findings, which revealed only slight impairment.
Tài liệu tham khảo
Buchtal F., Rosenfalk A.:Sensory potentials in polyneuropathy. Brain 94:241–262, 1971.
Clark J.R., Miller R.G., Viogoff J.M.:Juvenile onset metachromatic leukodystrophy: biochemical and electrophysiologic studies. Neurology 29:346–353, 1979.
Dayan A.D.:Peripheral neuropathy of metacromatic leukodystrophy: observation on segmental demyelination and remyelination and the intracellular distribution of sulphatide. J. Neurol. Neurosurg. Psychiatry 30:311–318, 1967.
French J.H., Graziani L.J., Papin J.:Metachromatic leukodystrophy: clinical aspects. Neurology 15:293, 1965.
Fullerton P.M.:Peripheral nerve conduction in metachromatic leukodystrophy. J. Neurol. Neurosurg. Psychiatry 27:100–109, 1964.
Haberland C., Brunngraber E., Witting L et al.:Juvenile metachromatic leukodystrophy: case report with clinical, histopathological, ultrastructural and biochemical observatios. Acta Neuropathol. 26:93–106, 1973.
Hagberg B.:Clinical symptoms, signs and tests in metachromatic leukodystrophy. In: Folch, P.J., Baver H. (Eds) Brain lipids and lipoproteins and the leukodystrophies, pp. 134–136, 1963.
MacFaul R., Cavanagh W., Lake B.O. et al.:Metachromatic leukodystrophy: review of 38 cases. Arch. Dis. Child 52:168–175, 1982.
Percy A.K., McKmann G.M. The biochemistry of myelin and the leukodystrophies. In: Vinken, Bruyn G.W. Eds. Handbook of Clinical Neurology. North Holland Publ. pp. 134–149, 1970.
Pliz H., Hopf H.C.:A preclinical case of late adult metachromatic leukodystrophy? J. Neurol. Neurosurg. Psychiatry 35:360, 1972.
Seidel et al.:Late-onset metachromatic leukodystrophy: diagnostic problem elucidated by case report. J. Neurol. 226:119–124, 1981.
Tonnesen T. et al.:An anusual form of ARS-A deficiency combined with sulfatide-excretion and a normal sulfatide-loading. Acta Paediatr. Scand. 72:837–841, 1983.
Vos A.J.M., Joosten E.M.G. et al.:An atypical case of infantile Globoid Cell Leukodystrophy. Neuropediatrics 14:110–112, 1983.