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

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.

Oligosaccharidoses

Chapter 134 covers oligosaccharidoses (GM1 gangliosidosis, infantile/juvenile type (MIM 230500, 230605), GM1 gangliosidosis, adult type (MIM 230650) sialidosis/galactosialidosis (MIM 256550, 256540), alpha-mannosidosis (MIM 248500), fucosidosis (MIM 230000), aspartylglucosaminuria (MIM 208400), sialic acid storage disease (MIM 604369), multiple sulfatase deficiency (MIM 272200)), including major clinical findings, radiographic features, and differential diagnoses.