Juvenile sialidosis: a rare case and review of the literature.

Background: Sialidosis is a rare variety of lysosomal storage disease that results in intracellular accumulation of sialic acid containing compounds. The authors report the first case of type II sialidosis, juvenile subtype in a 30-month-old male child from Nepal. Case presentation: Progressive hearing loss with coarse facies, hepatomegaly, kyphoscoliosis, dysostosis multiplex were the major features in a 30-month-old child born to healthy non-consanguineous parents. With the suspicion of lysosomal storage disease, urinary oligosaccharides were tested and were positive. Whole-exome sequencing revealed a mutation in the neuraminidase gene (NEU1) and established the diagnosis of sialidosis. Clinical discussion: Sialidosis is a rare autosomal recessive type of lysosomal storage disease resulting due to mutation of the neuraminidase gene leading to intracellular accumulation of sialic acid compounds. Based on the presence of visual symptoms, sialidosis is classified into type I and II varieties. Our case is of type II juvenile sialidosis. Conclusion: Despite rare, sialidosis is a life-threatening, and disabling disease. Exploring targeted therapy is the utmost to treat this condition.

Liver injury at admission and outcomes in patients with COVID-19 disease: a prospective cohort study.

The liver is one of the common extrapulmonary organs involved in the coronavirus disease 2019 (COVID-19) infection. We aimed to find the prevalence of liver injury at hospital admission and its effects on outcomes. Methods: This is a single-center prospective observational study. All consecutive patients with COVID-19 admitted during the months of May to August 2021 were included in the study. Liver injury was defined as at least 2 times elevation of aspartate transaminase, alanine transaminase, alkaline phosphatase, and bilirubin above the upper limits on normal. The predictive efficacy of liver injury was measured as its effects on outcome variables, that is duration of hospital stay, requirement of ICU admission, mechanical ventilation, and mortality. Presence of liver injury compared with existing biomarkers markers of severe disease, that is lactate dehydrogenase, D-dimer, and C-reactive protein. Results: A total of 245 consecutive adult patients with COVID-19 infection were included in the study. Liver injury was present in 102 (41.63%) of patients. There was a significant association between the presence of liver injury and duration of hospital stay (10.74 vs. 8.9 days; P=0.013), the requirement of ICU admission (12.7 vs. 10.2%; P=0.018), mechanical ventilation (10.6% vs. 6.5%; P=0.003), and mortality (13.1% vs. 6.1%; P<0.001). Liver injury was significantly associated (P<0.001) with the corresponding elevation of serum biomarkers of severity. Conclusion: The presence of liver injury in patients with COVID-19 infection at the time of hospital admission is the independent predictor of poor outcomes and can also be used as the marker of disease severity.