Camptocormia in a young man with anti-GAD-seropositive stiff-person syndrome

• DOI: 10.1136/bcr-2024-262122
• Publication Date: 2024-08-09T04:36:10Z
• Authors: Mekala Anusha; Rithvik Ramesh; Sundar Shanmugam; Philo Hazeena; Deepa Avadhani; Lakshmi Narasimha...; Vijayashankar Par...; Kannan Karthik Ka...
• Keywords: Stiff person syndrome; Muscle Rigidity; Muscle stiffness

Stiff-person syndrome (SPS) usually manifests as an autoimmune neuromuscular disorder characterised by pronounced and advancing rigidity, primarily affecting the trunk proximal muscles. There are various clinical subtypes like classic SPS (truncal stiffness, generalised rigidity muscle spasms), partial (stiff-limb syndrome) uncommon forms including progressive encephalomyelitis with myoclonus. Camptocormia, defined forward flexion of spine in upright position that disappears supine position, without fixed deformity, has been described only two cases initial presentation Anti glutamic acid decarboxylase (GAD) autoimmunity. We encountered a young male presenting forward-leaning posture involuntary rhythmic movements lower limb. Diagnostic workup included MRI, blood routines, screening, genetic testing, lumbar puncture electromyography. Elevated serum anti-GAD antibody levels, inflammatory CSF certain other features supported diagnosis SPS. Treatment involved benzodiazepines, relaxants immunotherapy intravenous immunoglobulin. This case underscores importance considering immune-mediated causes, such SPS, patients camptocormia.