12 research outputs found
Traumatic Injury of the Pelvis Causing Compression and Acute Critical Stenosis of a Common Iliac Artery Stent with Resultant Critical Leg Ischemia: Successful Treatment with Transbrachial Balloon Angioplasty: Case Report
Multifocal Nodular Fatty Infiltration of the Liver: A Rare Benign Disorder That Mimics Metastatic Liver Disease
Estenosis ureteral post-trasplante renal: tratamiento con prótesis metálica autoexpandible
Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum
Gaucher disease (GD) is an autosomal recessive condition that results from a deficiency of the enzyme β-glucocerebrosidase. The increased risk of primary parkinsonism symptoms among individuals affected with GD and carriers for the disorder is well-documented in the literature. However, these risks and case reports often reflect patients with classical Parkinson's disease (PD) symptoms. We report a patient with GD type 1 who was diagnosed with corticobasal syndrome (CBS), a clinical atypical parkinsonism diagnosis, in his sixth decade of life. Our case highlights the need to consider forms of atypical parkinsonism such as CBS in addition to PD in the differential diagnosis of cognitive and motor changes in patients with GD type 1. We also recommend careful assessment and routine monitoring of cognition, mood, behavior, sleep patterns, olfaction, and memory in patients with GD type 1 to identify early symptoms indicative of neurological involvement. Keywords: Gaucher disease, Atypical parkinsonism, Corticobasal syndrome, Apraxia, Stereoagnosia, Astereognosi