Adult metachromatic leukodystrophy: disorganized schizophrenia-like symptoms and postpartum depression in 2 sisters

We describe the cases of 2 sisters with adult metachromatic leukodystrophy (MLD). Whereas one sister presented with disorganized schizophrenia-like symptoms as the initial manifestation of MLD, the other remained symptom free except for a 4-week period of postpartum depression. In both patients, the...

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Bibliographic Details
Published in:Journal of psychiatry & neuroscience 2005, Vol.30 (1), p.33-36
Main Authors: KUMPERSCAK, Hojka Gregoric, PASCHKE, Eduard, GRADISNIK, Peter, VIDMAR, Jernej, BRADAC, Stanislava Umek
Format: Article
Language:English
Subjects:
Adolescent
Adult
Biological and medical sciences
Case studies
Cerebrospinal Fluid Proteins - analysis
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Depression, Postpartum - complications
Female
Fundamental and applied biological sciences. Psychology
Humans
Leukodystrophy, Metachromatic - cerebrospinal fluid
Leukodystrophy, Metachromatic - complications
Medical sciences
Neurology
Pregnancy
Psychoanalysis
Psychology. Psychoanalysis. Psychiatry
Psychology. Psychophysiology
Research Paper
Schizophrenia, Disorganized - complications
Schizophrenia, Disorganized - diagnosis
Sphingolipidoses
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Summary:We describe the cases of 2 sisters with adult metachromatic leukodystrophy (MLD). Whereas one sister presented with disorganized schizophrenia-like symptoms as the initial manifestation of MLD, the other remained symptom free except for a 4-week period of postpartum depression. In both patients, there was some residual activity of leukocyte arylsulfatase A (1.7% and 5.5% of normal), and a marked increase in urinary sulfatides was present, as measured by tandem mass spectrometry. An arylsulfatase A pseudodeficiency was therefore excluded. The most common mutations of the adult phenotype, Ile-179-Ser and Pro-426-Leu, were not found. In the literature, only 1 case of adult MLD manifesting as disorganized schizophrenia-like symptoms has been described, whereas postpartum depression has been so far unknown as a presenting symptom of MLD.
ISSN:1180-4882
1488-2434