Hostname: page-component-78c5997874-94fs2 Total loading time: 0 Render date: 2024-11-11T03:49:07.520Z Has data issue: false hasContentIssue false
  • English
  • Français

Puberty or heridity?

Published online by Cambridge University Press:  18 September 2015

R.A.H. Van Dalen  and
J.A. Den Boer
R.A.H. Van Dalen
Affiliation:
Academisch Ziekenhuis Utrecht, Utrecht
Get access Rights & Permissions [Opens in a new window]

Summary

In this paper a case history is described of a young male patient who gradually developed progressive personality changes and psychiatric complaints. This was subsequently followed by neurological symptoms and dementia. The patient appeared to be suffering from the adult form of metachromatic leucodystrophy (MLD). MLD is a rare disease with an autosomal-recessive mode of inheritance. The pathogenesis involves a deficiency of the enzyme arylsulfatase-A, causing sulfatide accumulation in (among others) nervous tissue.

Based upon a review of the literature several subtypes of MLD are mentioned. Both diagnostic aspects and therapeutic possibilities are critically discussed. It is argued that in cases of psychiatric complaints which do not easily fit in the diagnostic framework of the DSM-III-R in adolescence, the existence of neuropsychiatric diseases should be evaluated.

Keywords

metachromatic leukodystrophyadult formpsychiatric disturbancesmetachromatische leucodystrofieadulte vormpsychiatrische complicaties
Type
Research Article
Information
Acta Neuropsychiatrica , Volume 5 , Issue 1 , March 1993 , pp. 19 - 22
Copyright
Copyright © Scandinavian College of Neuropsychopharmacology 1993

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Literatuur

1.Alzheimer, A. Ueber besondere basophil metachromatische Ab-baupodrukte. In: Nissl, F. and Alzheimer, A., eds. Histologische und histopathologische arbeiten, Bd.III. Jena: G. Fischer, 1910: 493–504.Google Scholar
2.Luyten, JAFM, Staal, GEJ, Willemse, J. Metachromatic leuco-dystrophy and age: A comparative study of the clinical enzymolo-gical and ultrastructural findings of three cases. Clin Neurol Neurosurg 1979;81: 221-33.Google Scholar
3.Luyten, JAFM. Metachromatic leucodystrophy and age. A clinical, enzymological and ultrastructural study. Utrecht: Proefschrift 1979.Google Scholar
4.Hohenschutz, ChW, Friedl, KH, Schlör, A, et al.Probable metachromatic leucodystrophy/pseudodeficiency compound heterozygote at the arylsulfatase A locus with neurological and psychiatric symptomatology. Am J med Gen 1988; 31: 169-75.CrossRefGoogle ScholarPubMed
5.Kreysing, J, von Figura, K, Gieselmann, V. Structure of arylsulfatase A gene. Eur J Biochem 1990; 191: 627-31.CrossRefGoogle ScholarPubMed
6.Hoes, MJAM, Lamers, KJB, Wevers, RA. Use of arylsulfatase A in chronic psychiatric patients. Am J Psych 1988; 145; 382.Google ScholarPubMed
7.Fischer, NR, Cope, SJ, Lishman, WA. Metachromatic leucodystrophy: conduct disorder progressing to dementia, (letter). JNNP 1987;50:488-9.Google Scholar
8.Bosch, EP, Hart, MN. Late adult-onset metachromic leucodystrophy. Dementia and polyneuropathy in a 63-year-old man. Arch Neurol 1987; 35: 475-7.CrossRefGoogle Scholar
9.Alves, D, Pires, MM, Guimares, A, Miranda, MC. Four cases of late onset metachromic leucodystrophy in a family: clinical, biochemical and neuropathological studies. JNNP 1986;49: 1417-22.Google Scholar
10.Betts, TA, Thomas Smith, W, Path, FC, Kelly, RE. Adult meta chromatic Leucodystrophy (sulphatide lipidosis) simulating acute schizophrenia. Report of a case. Neurology 1986; 18: 1140-2.CrossRefGoogle Scholar
11.Manowitz, P, Kling, A, Kohn, H. Clinical course of adult metachromatic leucodystrophy presenting as schizophrenia. A report of two living cases in siblings. J nerv ment Dis 1978; 166: 500-6.CrossRefGoogle ScholarPubMed
12.Mahon-Haft, H, Stone, RK, Johnson, R, Shah, S. Biochemical abnormalities of metachromatic leucodystrophy in an adult psychiatric population. Am J Psych 1981; 138: 1372-4.Google Scholar
13.Shapiro, LH, Aleck, MM, Kaback, H, et al.Metachromatic leukodystrophy without arylsulfatase A deficiency. Pediatr Res 1979; 13:1179-81.CrossRefGoogle ScholarPubMed
14.Kolody, EH, Moser, HW. Sulfatide lipidosis. Metachromatic leukodystrophy. In: Stanbury, JB, Wijngaarden, JW, Frederickson, DS, Goldstein, JL, Brown, FS, eds. The metabolic Basis of Inherited Disease. 5th ed. New York: McGraw-Hill, 1983: 881–905.Google Scholar
15.Waltz, G, Harik, SI, Kaufman, B. Adult metachromatic leucodystrophy. Value of computed tomographic scanning and Magnetic Resonance Imaging of the brain. Arch Neurol 1987; 44: 225-7.CrossRefGoogle ScholarPubMed
16.Valk, J, van der Knaap, MS. Metachromatic leucodystrophy. In: Valk, J, van der Knaap, MS (Eds): Magnetic resonance of myelin myelination and myelin disorders. Berlin, Heidelberg: Springer Verlag, 1989; 68–76.CrossRefGoogle Scholar
17.Besson, JAO. A diagnostic pointer to adult Metachromatic leucodystrophy. Br J Psychiat 1980; 137: 186-7.CrossRefGoogle ScholarPubMed
18.Eto, Y, Tahara, T. Prenatal diagnosis of metachromatic leucodystrophy. A diagnosis by Amniotic fluid and its confirmation. Arch Neurol 1982; 39: 29–32.CrossRefGoogle ScholarPubMed
19.Kihara, H, Ho, CK, Fluharty, KK, Hartlage, PL. Prenatal diagnosis of metachromatic leukodystrophy in a family with pseudoarylsulfa-tase. A deficiency by the cerebroside sulfate loading test. Pediat Res 1980; 14: 224-7.CrossRefGoogle Scholar
20.Kolodny, EH. Metachromatic leucodystrophy and multiple sulfata-se deficiency. In: Scriver, CR, Beaudet, AL, Sly, WS, Valle, D (eds): The metabolic Basis of inherited Disease 6th ed. New York: McGraw-Hill, 1989: 1721-50.Google Scholar
21.Krivit, W, Shapiro, E, Kennedy, W, et al.Treatment of late infantile metachromatic leukodystrophy by bone marrow transplantation. N Engl J Med 1990; 322: 28–32.CrossRefGoogle ScholarPubMed
22.Cerizza, M, Nemni, R, Tamma, F. Adult metachromatic leucodystrophy: an underdiagnosed disease? (letter). JNNP 1987; 50: 1710-2.Google Scholar
23.Hoes, MJAJM, Lamers, KJ, Hommes, OR, Ter Haar, B. Adult metachromatic leukodystrophy. Arylsulphatase A values in four generations of one family and some reflections about the genetics. Clin Neurol Neurosurg 1978; 80: 174-88.CrossRefGoogle ScholarPubMed