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A case of motor neuron involvement in Gaucher disease
V Pozzilli1, F Giona2, M Ceccanti1
1Rare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University, Rome, Italy.
Abstract:
Gaucher disease (GD) is a genetic disorder characterized by an accumulation of glucosylceramide in cells in the monocyte-macrophage system. We describe a case of a 33-year-old man with a previous diagnosis of type 3 GD who displayed a progressive weakening of the limbs followed by upper motor neuron involvement. A diagnosis of definite Amyotrophic Lateral Sclerosis was made. This is the first reported case of concurrent Gaucher disease and the ALS phenotype in the same patient.
Insights
Gaucher disease (GD), a genetic disorder, can present with neurological symptoms. This case report details the first instance of a patient with Gaucher disease also diagnosed with Amyotrophic Lateral Sclerosis (ALS).
Area of Science:
- Neurogenetics
- Lysosomal Storage Disorders
Background:
- Gaucher disease (GD) is a lysosomal storage disorder caused by glucocerebrosidase deficiency, leading to glucosylceramide accumulation.
- Type 3 GD involves progressive neurological impairment, but typically not the motor neuron degeneration seen in ALS.
Observation:
- A 33-year-old male with a known diagnosis of type 3 Gaucher disease presented with progressive limb weakness.
- The patient subsequently developed upper motor neuron signs consistent with a neurodegenerative process.
Findings:
- A diagnosis of definite Amyotrophic Lateral Sclerosis (ALS) was established in the patient.
- This represents the first documented case of concurrent Gaucher disease and Amyotrophic Lateral Sclerosis phenotype in a single individual.
Implications:
- This case suggests a potential, previously unrecognized, link or co-occurrence between Gaucher disease and ALS.
- Further research is warranted to explore potential sharedPathways or genetic predispositions that may contribute to this dual diagnosis.
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