Introduction: Stiff person syndrome is a rare disorder (the prevalence is estimated at about 1/1,000,000) of unclear etiology, characterized by progressive rigidity and stiffness. The stiffness primarily affects the truncal muscles and is superimposed by spasms, resulting in postural deformities. Stiff-Person syndrome is an autoimmune disorder and highly correlates with the presence of anti–glutamic acid decarboxylase (GAD) antibodies. Baclofen and benzodiazepines are the primary treatments for SPS. Autoimmune suppressive treatments such as steroids, rituximab and plasma exchange have been also used in SPS patients; however, when the above treatments are inadequate, intrathecal baclofen may be used.
Methods: We reported 3 patients with GAD (+) SPS which presented severe refractory neurological manifestations of the disease and greatly benefited from intrathecal baclofen (ITB) therapy.
Results: A 34 year old man diagnosed with SPS presented with refractory progressive spasms of the lower trunk. Treated with implantation of programmable baclofen pump, the patient's spasm had decreased dramaticall. The second patient was a 33 year old woman diagnosed with acute SPS developed to a life threatening disease manifested in progressive diaphragmatic spasm, leading to respiratory failure. While hospitalized at the intensive care unit, the patient underwent a promising intrathecal baclofen administration trial following an implantation of intrathecal baclofen pump. The diaphragm contractility was regained and the patient had withdrawal from mechanical ventilation soon after. The third patient was a 17 year old girl presented with truncal muscle spasm that was induced by voluntary movements, resulting in flexion of the arms and extension of the legs. Two months after the patient's admission, the patient demonstrated progressive breathing difficulties due to muscle spasm, and she had to be managed with mechanical ventilation. After an ITB pump implantation, the patient's condition rapidly improved, and after withdrawing from mechanical ventilation and a short period of rehabilitation, the patient had been discharged from the hospital fully functional, with a substantial reduction in her symptoms.
Conclusions: Intrathecal baclofen (ITB) therapy is a highly recommended therapy in the early stages of SPS.
Patient Care: SPS patients with severe refractory neurological manifestations of the disease can greatly benefited from intrathecal baclofen (ITB) therapy.
Learning Objectives: To report three cases of a rare disorder, GAD (+) Stiff Person Syndrome (SPS), treated with Intrathecal baclofen therapy