Objective: Gaucher disease is an inherited disease caused by a mutation in the glucocerebrosidase gene, causing visceral, hematologic, and skeletal involvement. ^{[1] [2]} We report the case of a patient 61 years old, who manifested typical signs of Parkinson’s disease, without any previous medical history and was later diagnosed with type 1 GD.

Background: A 61-year-old man complaining of progressive walking difficulty and slowness of movements mainly in his right arm. He also referred to experiencing chronic diarrhea, joint pain, and persistent depressive mood. He has no previous personal history or family history of any medical condition. Through the physical exam, we noted splenomegaly and hepatomegaly. On neurological examination, we found hypomimia, slurred speech, bradykinesia in all his limbs, rigidity predominately on the right side, postural instability.

Method: Hemogram showed leukopenia and thrombocytopenia. On biochemical tests, Bilirubin was slightly high. Brain MRI was normal. Abdominal MRI detected enlargement and several lesions of the spleen and liver, a pathological fracture of L2 vertebrae, and intramedullary lesions of the proximal femur bone on the lower limb. Based on painless hepatosplenomegaly, cytopenia, and skeletal abnormalities, Gaucher disease was suspected and a genetic test was requested, which detected a heterogeneous variant of GBA gene c.1226A>G p (Ans409Ser) confirming the diagnosis. ^[3] Regular three-year follow-ups revealed a good response to Levodopa treatment.

Results: GD type 1 is diagnosed in childhood/adulthood and the Ans409Ser mutation is one of the most common types ^{[2] [3]}. Patients with only one allele do not have primary neurological involvement, but this does not exclude them from developing PD later in life ^[4]. Our patient presented first with typical signs of PD and no other medical or family history that could raise suspicion of a genetic disease. His physical examination findings were the first red flag that directed us to the proper diagnosis.

Conclusion: Our case reports an unusual presentation of this disease, whose neurological examination fulfilled the criteria of PD and further investigations revealed the primary diagnosis. We suggest always considering the differential diagnosis, even when the patient shows typical signs of PD.

References: [1] A. D. Patrick A Deficiency of Glucocerebrosidase in Gaucher’s Disease Biochem J (1965) 97 (2): 17C–24C.
[2] Charrow J, Anderson H, Kaplan P The Gaucher Registry Demographics and Disease Characteristics of 1698 Patients With Gaucher Disease Arch Intern Med. 2000; 160(18):2835-2843.

[3] Koprivica V, Stone D L, Park J K, Callahan M, Frisch A, Cohen I J, Tayebi N, Sidransky E Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet. 2000 Jun; 66(6): 1777–1786.

[4] Bultron G, Kacena K, Pearson D, Boxer M, Yang R, Sathe S, Pastores G, Mistry P The risk of Parkinson’s disease in type 1 Gaucher disease J Inherit Metab Dis. 2010 Apr; 33(2): 167–173.

« Back to 2023 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/asymptomatic-gaucher-disease-presented-as-parkinsonism-in-61-years-old-patient/