Objective: Gaucher disease, an autosomal recessive lysosomal storage disorder, is caused by a deficiency of the enzyme glucocerebrosidase. This results in the accumulation of glucosylceramide in macrophages and the formation of Gaucher cells.

Background: The disease may present with multisystem involvement, including cytopenia, hepatosplenomegaly, and bone disease. In neuronopathic forms, there are neurological manifestations. Here, we present a case of type 3 Gaucher disease with a prominent hyperkinetic movement disorder.

Method: A 24-year-old male presented with involuntary movements of the head, neck, and eyes that began at age three and progressively worsened. The movements increased during periods of stress and were accompanied by dystonic posturing of the neck and legs. His medical history was notable for thrombocytopenia, which was diagnosed after he experienced prolonged bleeding following a tooth extraction at age 12. Family history revealed similar involuntary head movements and thrombocytopenia in his father and brother. Both died in their twenties due to cardiac disease. The parents were first cousins. A neurological examination revealed limited vertical and horizontal gaze, impaired saccadic eye movements, mild hypophonic dysarthria, blepharospasm, facial myoclonus, and myoclonic and choreiform movements in the upper and lower extremities. Deep tendon reflexes were brisk, and bilateral Babinski signs were present. Laboratory studies showed thrombocytopenia, and abdominal ultrasonography revealed hepatosplenomegaly. Whole-exome sequencing identified a homozygous mutation in the GBA gene, confirming type 3 Gaucher disease. Enzyme replacement therapy with velaglucerase alfa was initiated.

Results: Early follow-up after treatment showed improvement in thrombocytopenia and a marked reduction in hyperkinetic movements.

Conclusion: This case highlights the importance of evaluating early-onset hyperkinetic movement disorders accompanied by systemic findings and a suggestive family history for neurometabolic disorders, such as Gaucher disease. Early recognition and multidisciplinary management may allow timely initiation of enzyme replacement therapy and lead to significant clinical improvement.

« Back to 2026 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/hyperkinetic-movement-disorder-as-the-first-manifestation-of-gaucher-disease-type-3/