RT Journal Article
SR Electronic
T1 Adult metachromatic leukodystrophy: disorganized schizophrenia–like symptoms and postpartum depression in 2 sisters
JF Journal of Psychiatry and Neuroscience
JO JPN
FD Canadian Medical Association
SP 33
OP 36
VO 30
IS 1
A1 Hojka Gregoric Kumperscak
A1 Eduard Paschke
A1 Peter Gradisnik
A1 Jernej Vidmar
A1 Stanislava Umek Bradac
YR 2005
UL http://jpn.ca/content/30/1/33.abstract
AB 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.