Two cases of type I sialidosis and a literature review.

ABSTRACT:

Objective

This study aims to compare the clinical and electrophysiological characteristics of two cases of type I sialidosis in Chinese children with those reported in prior literature. The goal is to elucidate the clinical and genetic features of type I sialidosis.

Methods

Clinical investigations and genetic analyses were conducted on an 11-year-old girl, primarily presenting with short stature, who was admitted in June 2020, and a 10-year-old boy, admitted in July 2023, exhibiting rapid weight gain and accompanying visual impairment as primary manifestations. A literature review was performed by summarizing data from 31 published articles encompassing 69 genetically confirmed cases of type I sialidosis up to 2023 for comparative analysis.

Results

Patient 1 exhibited

SUBMITTER: Ding Y 

PROVIDER: S-EPMC11600752 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature