Avtor/Urednik		Gregorič-Kumperščak, Hojka; Paschke, Eduard; Gradišnik, Peter; Vidmar, Jernej; Umek-Bradač, Stanislava
Naslov		Adult metachromatic leukodystrophy: disorganized schizophrenia-like symptoms and postpartum depression in 2 sisters
Tip		članek
Vir		J Psychiatry Neurosci
Vol. in št.		Letnik 30, št. 1
Leto izdaje		2005
Obseg		str. 33-6
Jezik		eng
Abstrakt		We describe the cases of 2 sisters with adult metachromatic leukodystrophy (MLD). Whereas one sister presented with disorganized schizophrenia-like symptoms as the initial manitestation of MLD, the other remained symptom free except for a 4-week period of postpartum depression. In both patients, there was some residual activity ot leukocyte arylsulfatase A (1.7% and 5.5% of normal), and a marked increase in urinary sultatides 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.
Deskriptorji		PUERPERAL DISORDERS DEPRESSIVE DISORDER LEUKODYSTROPHY, METACHROMATIC SCHIZOPHRENIA, DISORGANIZED ADULT CEREBROSIDE-SULFATASE SULFATIDES