Belgian Journal of Paediatrics
The Diagnostic Process of an Ultra-Rare Disease: Free Sialic Acid Storage Disorder (Salla disease) in a 11-Month-old Infant, a Case Report
Vol. 26 No. 2 (2024), Case reports
Vol. 26 No. 2 (2024)

The Diagnostic Process of an Ultra-Rare Disease: Free Sialic Acid Storage Disorder (Salla disease) in a 11-Month-old Infant, a Case Report

Case reports
Published 2024-07-12
Semaja Louise Bottse
University Hospital Ghent, Department of Pediatircs, Ghent, Belgium
https://orcid.org/0009-0005-5990-3604
Sabine Verbeek
Groene Hart Hospital, Department of Pediatircs, Gouda, The Netherlands
Alice Brooks
Erasmus Medical Centre, Department of Clinical Genetics, Rotterdam, The Netherlands
Esmeralda Oussoren
Erasmus Medical Centre, Department of Pediatrics, Academic Centre for Lysosomal an Metabolic Diseases, Rotterdam, The Netherlands
https://orcid.org/0000-0003-0107-6835
Johanna van den Hout
Erasmus Medical Centre, Department of Pediatrics, Academic Centre for Lysosomal an Metabolic Diseases, Rotterdam, The Netherlands
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Keywords

neurodevelopmental impairment
lysosomal storage disease
neurometabolic disorder
free sialic acid storage disease
neurodevelopmental disorder
Salla disease
pediatric global developmental delay

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How to Cite

Bottse, S. L., Verbeek, S., Brooks, A., Oussoren, E., & van den Hout, J. (2024). The Diagnostic Process of an Ultra-Rare Disease: Free Sialic Acid Storage Disorder (Salla disease) in a 11-Month-old Infant, a Case Report. Belgian Journal of Paediatrics, 26(2), 147–149. Retrieved from https://belgjpaediatrics.com/index.php/bjp/article/view/266
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Abstract

In the time-consuming diagnostic process of pediatric developmental delay, awareness of rare metabolic disorders as etiologic causes remains essential. This case report illustrates the diagnostic process of the ultra-rare free sialic acid storage disorder, Salla disease. An 11-month-old boy presented with severe motor and cognitive developmental delay characterized by muscle hypotonia, limb ataxia, and nystagmus. Urine analysis revealed mildly elevated free sialic acid. Cerebral MRI revealed hypomyelination of the basal ganglia and corpus callosum. Whole exome sequencing of the metabolic disorder revealed a homozygous mutation of the SLC17A5 gene, concluding the diagnosis within 13 months: Salla disease.

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