BackgroundStiff Person Syndrome (SPS) is an autoimmune condition involving antibodies against several components of the inhibitory synapse in the spinal cord, with Glutamic Acid Decarboxylase (GAD) antibodies being the predominant immune marker. SPS affects approximately 1 patient per million population per year. The effect of IVIG has been established but studies on long term efficacy of regular IVIG are limited.
ObjectivesReview clinical details and long-term treatment response using a patient-reported questionnaire in stiff person and related syndromes.
MethodsPatients were identified from a tertiary neuroimmunology clinic based on classical clinical symptoms, autoimmune profile, and neurophysiological changes (Dalakas criteria). They were followed up after treatment to assess the response to IVIG.
Results
patients fulfilled the selection criteria. Patients' demographic profiles and clinical
Progressive encephalomyelitis with rigidity and myoclonus (PERM) is an autoimmune condition character- ised by various neurological symptoms associated with the dysfunction of the brain stem and spinal cord. PERM has been recognised as a paraneoplastic syndrome, its effects due mainly to the cross reaction of onconeural antibodies against the tumour also affecting neuronal cells.Interestingly, PERM can also present as an isolated syndrome not linked to malignancy. It must be noted however, that tumours may present much later than the syndrome and the aggressive nature of PERM may lead to patient mortality before the tumour can be identified clinically. Paradoxically, the treatment of malignancy can induce remission of PERM as will be illustrated in this case report.A 45-year-old lady initially presented with paraesthesia in both lower limbs followed by leg spasms. There was also difficulty with voiding and constipation. All the initial investigations were negative and the pos- sibility of functional neurological syndrome was made. Few weeks later, patient was readmitted and on this occasion transferred to the neuroscience centre. The patient had features of increased reflexes (including clonus) and also exhibited features of autonomic dysfunction such as heat intolerance, tachy- cardia, hypertension and bowel and urinary dysfunction.Glycine receptor positive progressive encephalomyelitis with rigidity and myoclonus (PERM) was diagnosed and investigations including PET scan confirmed an underlying breast cancer. Initial improvement with immunotherapy was sustained after cancer chemotherapy and surgery.saiju.jacob@uhb.nhs.uk
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