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Patient with stiff-person syndrome and negative anti-GAD antibodies

Stiff person syndrome is a rare disorder of the central nervous system (CNS) characterized by progressive rigidity and painful episodic spasms which are most prominently affecting paravertebral muscles and proximal limb muscles. According to past knowledge there are two variants of this syndrome. In most cases it is presented as autoimmune variant with positive antibodies against glutamic acid decarboxylase (GAD). Paraneoplastic variant is very rare and is connected with antiamphiphysin antibodies. Amphiphysin is a 128 kDa synaptic protein situated in presynaptic nerve terminals, important to the trafficking of synaptic vesicles. Co-occurrence of both antibodies is unlikely. Authors describe a case of the 49-year-old woman who 3 months before admission to the hospital started to feel painful spasms and stiffness in the neck, right shoulder and right arm, which after some time extended to the right leg. Her symptoms were triggered by tactile, auditory and sight stimuli. A neurological examination revealed markedly increased muscular tone on all four extremities. Active and passive movements in the shoulders and neck were aggravated and painful. Her gait was cautious and slow. In cerebrospinal fluid (CSF) there were 24 white blood cells /mL, raised total protein (1.00 g/l) and glucose level (4.12 mmol/l). Oligoclonal bands were negative. Magnetic resonance imaging (MRI) of the brain and spinal cord was unremarkable. Electromyoneurographic finding (EMNG), characterised by absence of relaxation after activation of muscle, supported the diagnosis of Stiff person syndrome. Anti-GAD antibodies were negative, but positive antiamphiphysin antibodies were revealed in serum and CSF. Patient was treated with intravenous methylprednisolone (IVMP) followed by tapering oral steroids, baclofen and diazepam with improvement of her symptoms. As a result of long-term and extensive diagnostic treatment ductal invasive carcinoma of the left breast with metastases in axillary lymph nodes was revealed. In conclusion we want to stress out that special attention in patients with Stiff person syndrome should be given to etiological factors, since this rare syndrome can be the first manifestation of breast cancer, asking for quick, extensive and careful diagnostic verification.

Stiff person syndrome; amphiphysin; glutamic acid decarboxylase; antibodies; breast carcinoma

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