%0 Case Reports
%T Juvenile sialidosis: a rare case and review of the literature.
%A Pokharel P
%A Dawadi A
%A Baral B
%A Dhungana S
%A Baskota A
%A Poudel DR
%J Ann Med Surg (Lond)
%V 86
%N 4
%D 2024 Apr
%M 38576973
暂无%R 10.1097/MS9.0000000000001768
%X <B>UNASSIGNED: </B>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.<BR><B>UNASSIGNED: </B>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.<BR><B>UNASSIGNED: </B>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.<BR><B>UNASSIGNED: </B>Despite rare, sialidosis is a life-threatening, and disabling disease. Exploring targeted therapy is the utmost to treat this condition.