title: Adult metachromatic leukodystrophy: disorganized schizophrenia-like symptoms and postpartum depression in 2 sisters.
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.
authors.affiliation: Department of Paediatrics, Maribor Teaching Hospital, Maribor, Slovenia. hojka.gregoric@guest.arnes.si
authors.forename: Hojka Gregoric
authors.initials: HG
authors.lastname: Kumperscak
authors.forename: Eduard
authors.initials: E
authors.lastname: Paschke
authors.forename: Peter
authors.initials: P
authors.lastname: Gradisnik
authors.forename: Jernej
authors.initials: J
authors.lastname: Vidmar
authors.forename: Stanislava Umek
authors.initials: SU
authors.lastname: Bradac
mesh_terms: D000293:Adolescent; D000328:Adult; D002556:Cerebrospinal Fluid Proteins / Q000032:analysis; D019052:Depression, Postpartum / Q000150:complications*; D005260:Female; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000134:cerebrospinal fluid / Q000150:complications*; D011247:Pregnancy; D012562:Schizophrenia, Disorganized / Q000150:complications* / Q000175:diagnosis
chemical_list: D002556:Cerebrospinal Fluid Proteins