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Title: The Clue Is In The Origin Watson! The Tale Of A DBS Surgery For Misdiagnosed PD
e-poster Number: INSIM14
Category: Neurology
Author Name: Hargunbir Singh
Institute: Government Medical College & Hospital Chandigarh
Co-Author Name: Nishit Sawal, Shivani Arjun
Abstract :
A 78-year-old patient with Spinocerebellar Ataxia was misdiagnosed as PD and underwent Deep Brain Stimulation Surgery. The patient reported for the programming of bilateral STN DBS after having poor relief of his PD symptoms. The patient had a history of a pseudo-RBD since 9 years, U/L Rest + Action tremor in left upper limb, bradykinesia since 7 years and a dysarthria since 3 years. The patient denied any Micro/Macrographia, instead his handwriting had simply worsened. According to the patient Tablet Levodopa+Carbidopa offered 10-15% of relief of PD symptoms and DBS surgery offered no benefit. Re-programming of the DBS IPG offered no significant change in the UPDRS-III, however there was a significant deterioration in the baseline Dysarthria. A detailed history taking revealed and early ED and RLS. Taking into account the ethnic origin of the patient (Hindu-Aggarwal) and atypical presentation, a PPP2R2B gene testing was done due to a suspicion of SCA-12, which is common in northern Indian population, as first described by Holmes et. al. SCA-12 is due to CAG repeats in the PPP2R2B gene on chromosome 5q32. The genetic test revealed 42 CAG repeats in PPP2R2B region which fell into the grey zone (32-51 CAG repeats). The Patient’s brother and sister had 13 and 42 CAG repeats respectively. Thus, the patient was earlier misdiagnosed as a case of Parkinson’s disease and DBS surgery offered no relief. Levodopa was tapered off. Dorsal most contacts were used to stimulate the Caudal Zona Incerta, and a significant reduction in tremor was observed.
