title: Brain MRI findings in two Turkish pediatric patients with aspartylglucosaminuria.
abstract: Aspartylglucosaminuria is a rare lysosomal storage disorder that occurs as a result of a deficiency of the aspartylglucosaminidase enzyme. Because the disease is commonly referred to as the Finnish disease heritage, it is underdiagnosed outside of Finland. To date, only three Turkish patients are described in the literature. Here we describe the clinical and brain magnetic resonance imaging findings in two Turkish cousins with aspartylglucosaminuria, which can raise the suspicion of this rare disease in clinical practice.
authors.affiliation: Department of Child Neurology, Faculty of Medicine, Selçuk University, Turkey kartalays@gmail.com.
authors.forename: Ayşe
authors.initials: A
authors.lastname: Kartal
authors.affiliation: Department of Child Neurology, Faculty of Medicine, Gazi University, Turkey.
authors.forename: Kürşad
authors.initials: K
authors.lastname: Aydın
mesh_terms: D054880:Aspartylglucosaminuria / Q000000981:diagnostic imaging* / Q000473:pathology; D001921:Brain / Q000000981:diagnostic imaging* / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005192:Family Health; D006801:Humans; D007091:Image Processing, Computer-Assisted; D008279:Magnetic Resonance Imaging; D008297:Male; D014421:Turkey
keywords: Aspartylglucosaminuria; brain MRI; lysosomal storage disorder