Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene

• Published in: Journal of Pediatric Endocrinology & Metabolism Vol. 31; no. 10; pp. 1155 - 1159
• Main Authors: Žigman, Tamara, Petković Ramadža, Danijela, Lušić, Mario, Zekušić, Marija, Ninković, Dorotea, Gardijan, Danilo, Potočki, Kristina, Omerza, Lana, Beljan, Lucija, Žarković, Kamelija, Kerkhof, Jennifer, Ljubojević, Marija, de Sain-van der Velden, Monique, Vuković, Jurica, Fumić, Ksenija, Sadiković, Bekim, Barić, Ivo
• Format: Journal Article
• Language: English
• Published: Germany De Gruyter 25.10.2018; Walter de Gruyter GmbH
• Subjects: Agammaglobulinemia - blood; Agammaglobulinemia - complications; Agammaglobulinemia - diagnostic imaging; Agammaglobulinemia - genetics; Brain - diagnostic imaging; fetal ascites; fetal MRI; free sialic acid storage disease; Humans; Infant; Magnetic Resonance Imaging; Male; Mutation; Organic Anion Transporters - genetics; Sialic Acid Storage Disease - blood; Sialic Acid Storage Disease - complications; Sialic Acid Storage Disease - diagnostic imaging; Sialic Acid Storage Disease - genetics; Symporters - genetics; Ultrasonography; fetal ascites; fetal MRI; free sialic acid storage disease
• ISSN: 0334-018X; 2191-0251
• DOI: 10.1515/jpem-2017-0397

Background Infantile free sialic acid storage disease (ISSD) is a severe multisystemic disorder characterized by the accumulation of free sialic acid in lysosomes. Case presentation The patient presented prenatally with fetal ascites and large scrotal hernias, without pleural or pericardial effusion. During the infantile period, he was diagnosed with permanent isolated immunoglobulin G (IgG) hypogammaglobulinemia, which thus far has rarely been associated with ISSD. The analysis of the SLC17A5 gene revealed a novel homozygous 94 bp gene deletion. We further provide a detailed description of pre- and postnatal clinical and radiographic findings. Conclusions Fetal ascites could be the first sign of several lysosomal storage diseases (LSDs), including ISSD. The analysis of LSD gene panels is an effective approach to diagnosis in the case of non-specific symptoms and when specific biochemical tests are not easily available.