Objective: To present a case of a woman who became transient Parkinsonian during pregnancy and found to have a rare genetic mutation and describe response to Levodopa treatment.

Background: Patient is a 37 year old right-handed woman who had a 10 year history of mild intermittent tremor only noticed during motor activities. Tremor did not interfere with her occupation as a parole officer and she was able to remain an active runner. When she became pregnant in 2014, she noticed tremors worsened and was more frequent and present at rest. In addition she had become bradykinetic and rigid which inhibited her from running. She even began to notice she was freezing when walking. At 22 weeks gestation, she, unfortunately, suffered a miscarriage due to placental infarction. All of her neurological symptoms resolved a few days post miscarriage. She had another pregnancy in September 2014 and again symptoms of resting tremor, stiffness, bradykinesia and freezing of gait appeared and continued to worsen throughout her pregnancy. Of note, she reports her brother lost a baby due to Gaucher’s disease and whole family was tested and she is heterozygous for Gaucher’s disease with one copy of INSV2 mutation.

Methods: Her exam shows bilateral bradykinesia, rigidity, right worse than left, a right hand resting tremor and a shuffled gait.

Results: Symptoms progressed throughout her pregnancy, requiring her to be on bedrest due to significant freezing when she would walk and fear of falling. After baby was born, this time her symptoms did not disappear. She was started on Rytary and had DaTScan obtained. Symptoms dissipated completely with Rytary and she developed mild dyskinesias. DaTScan showed findings consistent with neurodegenerative parkinsonism.

Conclusions: This is a novel case report due to several reasons: 1. This INSV2 mutation linked to Gaucher’s disease has rarely been reported to be a cause of parkinsonism. 2. Robust response to levodopa treatment, compared to prior reports of patients with parkinsonism and heterozygous for Gaucher’s disease. 3. Her initial transient parkinsonism completely resolved after her miscarriage and remained persistent after second pregnancy.

« Back to 2016 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/transient-parkinsonism-during-pregnancy-in-patient-heterozygous-for-gauchers-disease-case-report/