Juvenile sialidosis: a rare case and review of the literature

Author:

Pokharel Pashupati1,Dawadi Aakriti1,Baral Biraj2,Dhungana Sunil3,Baskota Arati2,Poudel Daman Raj3

Affiliation:

1. Maharajgunj Medical Campus, Institute of Medicine, Tribhuvan University

2. Kathmandu Medical College and Teaching Hospital

3. Department of Pediatrics, Tribhuvan University Teaching Hospital, Kathmandu Nepal

Abstract

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.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Reference17 articles.

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2. Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis;Bonten;Hum Mol Genet,2000

3. Sialidosis: a review of human neuraminidase deficiency;Lowden;Am J Hum Genet,1979

4. Sialidosis: a review of morphology and molecular biology of a rare pediatric disorder;Khan;Diagnostics,2018

5. Sialidosis (neuraminidase deficiency) types I and II: neuro-ophthalmic manifestations;Till;J Clin Neuroophthalmol,1987

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