A Case of Treatment Resistance and Complications in a Patient with Stiff Person Syndrome and Cerebellar Ataxia

Tremor and Other Hyperkinetic Movements

article

Lliwen A. Jones¹  Waqaar Baber²  Mark Wardle¹  Neil P. Robertson¹  Huw R Morris³  Alistair Church³  John G. Llewelyn¹  Kathryn J. Peall⁶ 

[1] Neurology Department, University Hospital of Wales;School of Medicine, Cardiff University;Royal Gwent Hospital;Royal Free Hospital;Department of Clinical Neuroscience, UCL Institute of Neurology;Neuroscience and Mental Health Research Institute, Cardiff University

关键词: Stiff Person Syndrome;    GAD autoantibodies;    cerebellar ataxia;    movement disorder;    cerebellum;    autoimmune;    anti-GAD;    treatment;   

DOI  :  10.5334/tohm.479

学科分类：社会科学、人文和艺术（综合）

来源: Ubiquity Press

【 摘 要 】

Background: Antibodies against glutamic acid decarboxylase (GAD) are associated with Stiff Person Syndrome (SPS). Case report: A 50-year-old woman presented with symptoms progressed over 9 years, resulting in a cerebellar ataxia and right upper limb tremor. Investigations revealed elevated serum and CSF anti-GAD antibody titres (98.6 and 53.4 μ/ml, respectively). Treatment included intravenous immunoglobulin and immunomodulation (infliximab and rituximab), improving her stiffness, but with no impact on the ataxia-related symptoms. Subsequent high-dose steroids led to diabetic ketoacidosis and unmasking of an insulin-dependent diabetes mellitus. Discussion: This case illustrates several key features: (1) the combined clinical picture of SPS and cerebellar ataxia is a rare phenotype associated with anti-GAD antibodies; (2) the cerebellar ataxia described was progressive and poorly responsive to immunomodulatory therapy; and (3) the potential for development of further autoimmune sequelae in response to immunosuppression, namely, the development of insulin-dependent diabetes in response to treatment with high-dose oral steroids.

【 授权许可】

CC BY