Endocrine Abstracts

POEMS syndrome characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes is a rare disease that usually presents in the 6th decade. We report a case of a young male in whom the presenting manifestations were mandibular mass, adrenal insufficiency and peripheral polyneuropathy. Clinical case: A thirty-three year old man from Guinea-Bissau was admitted to our hospital with asthenia, weight loss, decreased tactile sensibility with pain and muscle weakness in upper and lower limbs. Bedridden for 2 years, after surgery of mandibular mass with nondiagnostic histological examination. Physical examination revealed mandibular deformity, unilateral gynecomastia, bilateral axillary lymphadenopathy, sensorial motor peripherial polyneuropathy, edema of lower limbs. Lab. evaluation: normochromic, normocytic anemia, thrombocytosis, hyperkalemia, normal renal/liver function and protein electrophoresis, immunofixation: monoclonal protein negative, urine: increased kappa/lambda chains, Bence Jones protein neg., morning cortisol 8.3 ug/dl, ACTH 129 pg/ml. Laboratory workup confirmed adrenal insufficiency, subclinical primary hypothyroidism and primary hypogonadism. Thoracic-abdominal CT: hepatosplenomegaly, multiple sclerotic lesions in thoracic vertebras and ribs. Gluco- mineralocorticoid substitution and levothyroxine therapy were started with clinical improvement. Bone marrow biopsy revealed plasma cell dyscrasia and confirmed POEMS syndrome. Axillary lymphadenopathy biopsy: Castleman disease. The patient had several community-acquired, nosocomial pneumonias and an episode of pulmonary edema. Autologous hematopoietic cell transplantation (HCT) was planned, cyclophosphamide induction started. Meanwhile he suffered two ischemic strokes which resulted in motor aphasia and hemiparesis. Cerebral angiography revealed vascular lesions compatible with vasculitis and stenosis of two cerebral arteries. Comments: In this case, although serum immunofixation was negative for monoclonal protein, bone marrow biopsy confirmed POEMS syndrome. There is no standard therapy, however patients with disseminated bone marrow involvement are treated with chemotherapy with or without HCT. In this patient despite the young age, the disease was already advanced and resulted in severe complications, which led to resignation from chemotherapy and HCT complications, which led to resignation from chemotherapy and HCT.