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.

Health-related quality of life in children and adolescents with congenital diaphragmatic hernia: a cross-sectional study.

Background: Patients with congenital diaphragmatic hernia (CDH) have a high residual morbidity rate. We compared self-reported health-related quality of life (HRQoL) between patients with CDH and healthy children.

Methods: Forty-five patients with CDH who were born from January 1, 1990, through February 15, 2015, were matched to healthy, age-matched control participants at a 1:2 ratio.

A novel mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum.

Biallelic mutations in the post-GPI attachment to proteins 3 () gene cause hyperphosphatasia with mental retardation syndrome 4 (HPMRS4), which is characterized by elevated serum alkaline phosphatase, severe psychomotor developmental delay, seizures, and facial dysmorphism. To date, 15 mutations have been reported in humans. Here we report a novel homozygous mutation (c.