Abstract Details

Twitchy Patient with Positive Glycine Receptors Antibodies and abnormal EEG

Glycine receptor antibody-mediated Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM) is a rare but treatable neurological syndrome.

    A 75 years old right handed lady with a history of epilepsy and previously excised melanoma was admitted with clusters of seizures and confusion. Preceding this admission, she had 6 months history of fluctuating cognition and mobility problem.  She was found to be hypothermic, hypoglycemic with labile blood pressure. Shortly after she became withdrawn, mute and rigid with limited upward gaze and sustained spasms of the facial muscles. The patient was treated with anti-epileptic medications but continued to deteriorate. She developed stereotypical jerky and rubbing movement of her arms. Several differential diagnoses were considered, including prion disease. Her glycine receptors antibodies came back positive supporting the diagnosis of progressive encephalomyelitis with rigidity and myoclonus (PERM). Immunomodulation therapy with intravenous immunoglobulin and methylprednisolone has resulted in clinical improvement.  

    PERM is a rare immune-mediated condition considered to be part of the stiff person’s syndrome spectrum. It is characterised by muscular rigidity, spasms, myoclonus and brainstem dysfunction. Prognosis is variable but immunomodulation therapy against these neuronal surface antibodies has shown substantial clinical improvement in some reported cases.

    Glycine receptors antibodies should be examined in patients with core symptoms of muscle rigidity and spasms. The EEG and EMG have a role in establishing the diagnosis.

    We emphasise the importance for the clinicians to recognise the clinical features of this rare treatable condition to allow early treatment with immunotherapy which may influence prognosis as well as reduction mortality and morbidity. 

TitleForenamesSurnameInstitutionLead AuthorPresenter
DrPriya DeviShanmugarajahLeeds Teaching Hospital NHS Trust
DrZeidYasiryLeeds Teaching Hospital NHS Trust
DrTatyanaYermakovaLeeds Teaching Hospital NHS Trust
DrKathrynEllengerLeeds Teaching Hospital NHS Trust
DrMarcRandallLeeds Teaching Hospital NHS Trust
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