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Título

A dancer with cramps: Moersch-Woltman syndrome or stiff-person syndrome

RESUMO

Case presentation: A 30 yo, female, psychologist and dancer, previously healthy, non-consanguineous parents, without family history of neurological diseases. In 2018, she noticed limited movement of her left leg and hip, especially when dancing and performing "pilates", activities that she previously performed without complaints. She had severe painful cramps, associated with intense stiffness that later migrated to her right leg up to the lumbar column. She started physiotherapy with partial improvement of the condition, but it was discontinued in August 2020, which led to progressive worsening, now compromising her upper limbs and leading to fixed cervical hyperextension and hyperlordosis, confining her to the wheelchair. She also developed solid-liquid dysphagia, dysphonia, and dyspnea on minor exertion. Neurological examination revealed a fixed semi-flexed position of her lower limbs, lumbar hyperlordosis, and a semi-flexed trunk posture. Strength was grade 2 of the iliopsoas, thigh abductors, and adductors; grade 4+ of the biceps and quadriceps femoris, and grade 5 on the other muscle groups. Generalized grade 3+ deep tendon reflexes with bilateral plantar flexion reflexes. Postural instability and inability to walk. Baclofen and Pregabalin were administered up to maximal doses, with no response. Clinical improvement was observed only with Clonazepam 2 mg/d, with muscle relaxation, resuming independent gait. An investigation was carried out with serology, rheumatological profile, skull MRI and screening for neoplasms, with all negative results. Normal CPK dosage. Serum dosage of Anti-GAD with result > 2000 IU/ml. Therefore, clinical, laboratory, and therapeutic response led to the final diagnosis of Stiff-Person syndrome, which is why electroneuromyography was not performed at the time. Therapy continued with Clonazepam, Prednisone 60 mg/day, Azathioprine 150 mg/day, and due to partial response to therapy, she is now awaiting infusion of Human Immunoglobulin.

Discussion: Due to its often prolonged evolution and rarity, the diagnosis of Stiff-Person syndrome is still challenging, and its diagnostic criteria are not yet well established.

Final comments: This hypothesis should be considered in all patients presenting muscle stiffness associated with pain and muscle spasms, mainly in the lower back. There are several differential diagnoses, and anti-GAD dosage should be requested for diagnostic aid.