918-1 Gaucher's Disease

Identifier: 918-1 Title: Gaucher's Disease Subject: Disorder of Horizontal Saccades; Impaired initiation; Slow velocity; Arcuate trajectory; Absent optokinetic nystagmus; Normal Vertical Gaze; Normal Pursuit; Juvenile Neuronopathic Gaucher’s Disease, Type 3; Autosomal recessive linked to chromosome 1q21; Glucocerebroside (β-glucosidase) deficiency; Horizontal Gaze Palsy Description: This little boy has Gaucher’s disease. Gaucher’s disease is an autosomal recessive disorder, linked to chromosome 1q21, due to glucocerebroside β-glucosidase deficiency.