Pearls & Oy-sters: Deep Phenotyping of Abnormal Eye Movements Advances the Detection of
Ashley M Paul1, Weiyi Mu2, Ankur Butala2
1From the Department of Neurology (A.M.P., W.M., A.B., K.E.G.), John Hopkins University School of Medicine, Baltimore, MD; andDepartment of Genetic Medicine (W.M.), John Hopkins University School of Medicine, Baltimore, MD. apaul19@jh.edu.
Abstract:
A 58-year-old previously healthy woman presents with 3 years of rapidly progressive ataxia, parkinsonism, dysautonomia, peripheral neuropathy, leg weakness, spasticity, hyperreflexia, and mild vertical-gaze palsy. She has a matrilineal family history of neurodegenerative diseases. She was initially postulated to have spinocerebellar ataxia or atypical parkinsonism with cerebellar features. However, on closer inspection, her abnormal extraocular eye movements suggested rare mimicking disorders such as prion disease as part of the differential diagnosis, requiring further evaluation. This case highlights how deep phenotyping can open new diagnostic considerations, inform additional workup, and yield the precise diagnosis of Gerstmann-Sträussler-Scheinker syndrome (GSS).
