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

Autori
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

Izvornik
Journal of Pediatric Endocrinology and Metabolism (0334-018X) 31 (2018), 10; 1155-1159

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
fetal MRI ; fetal ascites ; free sialic acid storage disease

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA