Objective: To report a case of a late-onset Gaucher disease (GD) revealed by an atypical Parkinson disease.

Background: GD is an autosomal recessive lysosomal disorder, caused by mutations in the gene (GBA) coding for the enzyme glucocerebrosidase. Abnormal glucocerebrosidase function leads to the accumulation of glucosylceramide in lysosomes of reticuloendothelial cells, causing a variety of systemic manifestations including organomegaly, anemia, and thrombocytopenia and bone disease. 3 phenotypes have been described with a wide spectrum of neurological manifestations.

Methods: Case report.

Results: A 50 years-old Tunisian man, from consanguineous parents, with a family history of diabetes, manifested, since 1 year with an asymmetric resting tremor on the right arm and leg stiffness. He was complaining as well from back pain. On presentation, he had an asymmetric resting tremor and rigidity predominating on the right, bradykinesia and hypomimia. He had a slow shuffling and unsteady gait with reduced swing of the right arm. His parkinsonism was non responsive to levodopa therapy. Soon later, he became short-tempered, apathic, unable to concentrate or to fulfill properly his work as he’s used to be, started having sleep disturbances and sometimes hallucinations. The follow-up, 5 years later, showed a global cognitive impairment, a worsened parkinsonism with severe bradykinesia and tremor of both arms, a mild restriction of horizontal gaze and slowness saccades. During his disease course, he suffered from multiple bone problems: discal hernia with isthmic lytic lesions, acute bone crises and osteonecrosis of the right shoulder bone. Brain MRI showed mild frontal cortical atrophy. Standard metabolic workup and ophthalmologic evaluation were normal. He had hepatomegaly, but no splenomegaly on abdominal US. He underwent genetic testing revealing a heterozygous variant mutation in the GBA gene (p.L444P) leading to the diagnosis of GD.

Conclusions: There is wide variability in the age of onset, clinical presentation, and disease severity, even within the 3 major clinical subtypes of GD. this phenotypic heterogeneity makes the diagnosis a challenge for physicians. Thus, it is imperative to highlight the need of suspecting such curative diseases whenever atypical PD is encounted.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/an-early-onset-parkinsonism-revealing-a-gaucher-disease-with-a-heterozygous-mutation-in-gba-gene-a-case-report/