TY - JOUR T1 - Adult metachromatic leukodystrophy: disorganized schizophrenia–like symptoms and postpartum depression in 2 sisters JF - Journal of Psychiatry and Neuroscience JO - JPN SP - 33 LP - 36 VL - 30 IS - 1 AU - Hojka Gregoric Kumperscak AU - Eduard Paschke AU - Peter Gradisnik AU - Jernej Vidmar AU - Stanislava Umek Bradac Y1 - 2005/01/01 UR - http://jpn.ca/content/30/1/33.abstract N2 - 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. ER -