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Título

Paraneoplastic myopathy with phenotypic manifestation of oculopharyngeal muscular dystrophy (OPMD): a case report

RESUMO

Case Presentation:
A 53-year-old male, dyslipidemic, former smoker and drinker patient presented a walking difficulty and left ptosis, which progressed bilaterally, dysphonia, dysphagia for liquids and fever. Physical examination revealed paralysis of the lateral rectus and medial rectus muscles; paresis of the oblique muscles; grade 3 strength for cervical flexion and grade 4 for lateralization; dysmetria in the lower limbs; hyporeflexia; absent cutaneous-plantar reflex on the right side and in flexion on the left side; grade 2 gynecomastia. ENMG showed neurophysiological findings of myopathy. Thigh MRI revealed mild liposuction of the quadriceps femoris and gluteus maximus muscles. Skull MRI showed marked atrophy of the masticatory muscles. Lumbar puncture showed a CSF without alteration. The rheumatology team evaluated him and ruled out the hypothesis of inflammatory origin because the clinical (no response to corticosteroids) and imaging exams (no inflammatory signs on thigh MRI) were not compatible. After weeks, the patient started to manifest lymphadenomegaly: bilateral cervical and left supraclavicular. According to the neck CT, the cervical one was suggestive of neoplasia, and according to the pathological examination, the supraclavicular one was a metastasis of an epidermoid carcinoma. Based on the picture evolution, the main diagnostic hypothesis was an occult primary site epidermoid carcinoma and paraneoplastic myopathy syndrome.

Discussion:
Paraneoplastic syndromes are rare disorders triggered by an altered immune system response to a non-metastatic neoplasm and most commonly occur in patients who are not known to have cancer. The symptoms of neuromuscular paraneoplastic syndromes may mimic common neurological conditions, such as Myasthenia gravis syndrome. But, the patient of this case showed an oculopharyngeal muscular dystrophy (OPMD), which is a myopathy characterized by slowly progressive ptosis, dysphagia, and proximal limb weakness with myopathic involvement of other muscles, particularly of the limb girdles, starting in the legs.

Final comments:
OPMD is a very rare phenotypic manifestation of paraneoplastic syndromes, even in cases of neuromuscular paraneoplastic syndrome with myopathy. Once the patient had a family history of similar condition and lung cancer, he was kept under investigation for some weeks until the diagnosis of neoplasia. After that, treatment with Carboplatin and Paclitaxel was instituted with good response.