Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Kumperscak, HG; Paschke, E; Gradisnik, P; Vidmar, J; Bradac, SU.
Adult metachromatic leukodystrophy: disorganized schizophrenia-like symptoms and postpartum depression in 2 sisters.
J Psychiatry Neurosci. 2005; 30(1):33-36
(- Case Report)
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- Co-Autor*innen der Med Uni Graz
- Paschke Eduard
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- Abstract:
- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Adolescent -
- Adult -
- Cerebrospinal Fluid Proteins - analysis
- Depression, Postpartum - complications
- Female - complications
- Humans - complications
- Leukodystrophy, Metachromatic - cerebrospinal fluid
- Pregnancy - cerebrospinal fluid
- Schizophrenia, Disorganized - complications
- Find related publications in this database (Keywords)
- arylsulfatases
- depression
- postpartum
- leukodystrophy
- metachromatic
- schizophrenia
- disorganized