A novel mutation of SGSH and clinical features analysis of mucopolysaccharidosis type IIIA.

ABSTRACT:

Rationale

The 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 concerns

An 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.

Diagnoses

The patient was diagnosed as autosomal recessive (AR) MPS IIIA with a novel mutation in the SGSH gene.

Interventions

Genomic DNA was extracted from the peripheral blood and next-generation sequencing (NGS) technology was used to detect pat

SUBMITTER: Li X 

PROVIDER: S-EPMC6314651 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature