A Case of Sanfilippo Syndrome Type C and Wolfram Syndrome Type 1 and the Role of Next-Generation Sequencing in Diagnosis

OpenAlex İngilizce

Mucopolysaccharidosis IIIC (MPS IIIC) and Wolfram syndrome type 1 (WS1) are rarely seen autosomal recessive disorders with overlapping clinical features.This case report aims to highlight the role of next-generation sequencing (NGS) in diagnosing complex phenotypes and the necessity of considering multiple genetic disorders, particularly in consanguineous populations.We present a 15-year-old male who priorly received the diagnosis of WS1, and currently exhibited dysmorphic features, intellectual disability, developmental delay, diabetes mellitus, diabetes insipidus, optic atrophy, and seizures.Clinical exome sequencing identified homozygous pathogenic variants in both WFS1 and HGSNAT genes.While confirming WS1, these findings also implicated MPS IIIC as the underlying cause of symptoms unexplained by WS1.This is the first reported case of concurrent MPS IIIC and WS1.The findings underscore the critical role of NGS in diagnosing complex genetic conditions and emphasize the importance of comprehensive genetic evaluation, especially in cases with unexplained clinical variability.