Autosomal recessively inherited glycolipid storage disorder due to a defect in the lysosomal enzyme β-glucocerebrosidase, which causes the accumulation of glucocerebroside in cells of the liver, spleen and bone marrow. Gaucher disease is classified into three phenotypes based on neurological involvement: type 1 (most common phenotype, non-neuronopathic), type 2 (acute neuronopathic), type 3 (subacute neuronopathic).
Signs and Symptoms
Clinical presentation of Gaucher disease type 3 is very heterogeneous with neurological symptoms appearing in childhood or adolescence. Symptoms can include horizontal gaze palsy, myoclonic epilepsy, cerebellar ataxia, spasticity and dementia. Signs of systemic disease include frequent asthenia, growth retardation, splenomegaly and hepatomegaly. Bone anomalies may also be present and pancytopenia is a frequent symptom.
For initial evaluation ultrasound and magnetic resonance imaging (MRI) is used. Increased levels of chitotriosidase, ferritin and tartrate-resistant acid phosphatases are indicative of the disease. Confirmation of the diagnosis is achieved by demonstrating a deficit of glucocerebrosidase in circulating leukocytes.
Observable ocular motor disorders
- Initially horizontal supranuclear gaze palsy, in the course of the disease horizontal and vertical gaze palsy
0.0 Horizontal eye movements: horizontal smooth pursuit and horizontal saccades are severely impaired. 0.29 Vertical eye movements are less impaired, but not normal.
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