162  Cracking the NORSE code. Issue 6 (27th May 2022)

• Record Type: Journal Article
• Authors: Midgley, Laura; Poole, Olivia; Broad, Rebecca; Delaj, Laura; Flores, Lorena; Harikrishnan, Sreedharan
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 93:Issue 6(2022)
• Page Start: A59
• Page End: A59
• Publication Date: 2022-05-27
• Subjects: Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp-2022-ABN.191
• Languages: English
• ISSNs: 0022-3050

Abstract

Abstract : This 32 year old Irish traveller presented initially with tremor in his left hand. Blood tests and imaging at the time were unremarkable and he was treated with Botox and Gabapentin to some benefit. Three months later this gentleman presented with status epilepticus requiring intubation and ventilation. Despite escalat- ing anti-epileptic agents in addition to anaesthetic agents he remained in non-convulsive status with an EEG focus in the right temporal-occipital region. MRI showed left posterior parietal, right parietal-occipital and bilateral thalamic signal hyper-intensity. Routine investigations including autoimmune antibodies were unremarkable except for a raised CSF protein and CSF lactate. Crucially, the family later disclosed an extensive family history of epilepsy, including the patient's niece and nephew, who were both POLG-1 mutation A467T homozygotes. Following initial genetic screening we found our patient to be a POLG-1 mutation A467T heterozygote, which interestingly should not be pathological. Further detailed genetic screening later revealed he was also a POLG-1 W748S heterozygote. As a compound heterozygote this can lead to destabilisation of the linker region of the POLG-1 gene and result in disease, typically causing death in infancy. This gentleman unfortunately remained in non-convulsive status epilepticus despite maximum drug and adjuvant treatments and was subsequently palliated. [e-mail]