Abstract

Background: Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder (LSD) caused by GBA1 mutations, leading to glucosylceramide accumulation in macrophages. Early enzyme replacement or substrate reduction therapy improves outcomes, while delays can cause irreversible damage. The aim of this work to detect prevalence of neurological manifestations in different types of GD patients.

Methods: This observational hospital based cross-sectional study was carried out on 79 patients who were admitted to the Hematology Unit with proven GD by documented deficiency of acid β-glucosidase activity in peripheral blood leukocytes. Patients were divided into three groups Group 1: with GD type presented with symptoms and signs can include bone and organ problems, but brain development is normal, Group 2: with GD type 2, and Group 3: with GD type 3 symptoms include eye movement disorders, seizures, breathing problems, and liver and spleen enlargement. Patients were evaluated for clinical presentation especially neurological, laboratory finding and EEG finding

Results: Significant differences were noted among types of GD regarding age, sex, family history, failure to thrive, and neurological manifestations. Type 2 showed the highest frequency of seizures, motor delay, visual and bulbar dysfunction, while Type 3 demonstrated marked cognitive and academic impairments.

Conclusions: Patients with GD, especially those with type 2 and type 3, experience higher rates of neurological and psychiatric issues compared to type 1. Seizures are common in type 2 and 3, requiring antiseizure medication. While most have normal electroencephalograms (EEGs), some show epileptic activity.