Saccadic Eye Movement as a Harbinger of Gaucher's Disease in Children: A Case Report of Diagnostic Difficulty
Year: 2025
Type: article
Study design: Case Report
Abstract: Gaucher disease type 3 (GD3) is a rare disorder causing neurological decline, including saccadic eye movement defects. A 2-year-old boy, initially treated for anemia, later developed gaze slowness, highlighting the need for careful assessment in children with eye movement issues. Early diagnosis and management are crucial despite costly treatment.
Source: Clinical Case Reports
DOI: 10.1002/ccr3.71260
Institution: Patan Academy of Health Sciences
Language: English
Subfield: Genetics (clinical)
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $1,820
OpenAlex ID: W4415055752