• Xiaohua Li, Rui Xiao, Baiyu Chen, Guanglu Yang, Xiaomeng Zhang, Zhuo Fu, Junxian Fu, Mengli Zhuang, and Yinglong Huang.
• Department of Pediatrics, Affiliated Hospital of Inner Mongolia Medical University.
• Medicine (Baltimore). 2018 Dec 1; 97 (52): e13758e13758.

RationaleThe aim of this study was to analyze the clinical and imaging features of a pediatric patient with mucopolysaccharidosis type IIIA (MPS IIIA) and a novel mutation of the N-sulfoglucosamine sulfohydrolase (SGSH) in 1 pedigree.Patient ConcernsAn 8-year-old female patient presented with developmental regression, seizures, cerebral atrophy, thickened calvarial diploe, apathy, esotropia, slender build, thick hair, prominent eyebrows, hepatomegaly, ankle clonus, muscle and joint contractures, and funnel chest.DiagnosesThe patient was diagnosed as autosomal recessive (AR) MPS IIIA with a novel mutation in the SGSH gene.InterventionsGenomic DNA was extracted from the peripheral blood and next-generation sequencing (NGS) technology was used to detect pathogenic genes, and the Sanger method was applied to perform pedigree verification for the detected suspicious pathogenic mutations.OutcomesThe NGS done for the girl and her family showed 2 variations that were both missense mutations in SGSH. The c.1298G > A (p.Arg433Gln) was a known mutation, and the c.630 G > T (p.Trp210Cys) was a novel variation.LessonsThe common clinical manifestations of MPS IIIA were rapid developmental regression, seizures, cerebral atrophy, and thickened calvarial diploe. The results showed that the c.630 G > T was likely pathogenic according to bioinformatics analysis, which probably was a novel mutation. This study reports 1 case of MPS IIIA with some clinical features as determined via clinical and genetic analysis, and found a new mutation in the SGSH gene.

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