Summary POEMS syndrome (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal protein and Skin changes) is a rare multisystemic disease. Clinical presentation is variable, the only mandatory criteria being polyneuropathy and monoclonal gammapathy in association with one major and one minor criterion. Primary adrenal insufficiency is rarely reported. We describe a case of a 33-year-old patient, in whom the presenting symptoms were mandibular mass, chronic sensory-motor peripheral polyneuropathy and adrenal insufficiency. The laboratory evaluation revealed thrombocytosis, severe hyperkalemia with normal renal function, normal protein electrophoresis and negative serum immunofixation for monoclonal protein. Endocrinologic laboratory work-up confirmed Addison’s disease and revealed subclinical primary hypothyroidism. Thoracic abdominal CT showed hepatosplenomegaly, multiple sclerotic lesions in thoracic vertebra and ribs. The histopathologic examination of the mandibular mass was nondiagnostic. Bone marrow biopsy revealed plasma cell dyscrasia and confirmed POEMS syndrome. Axillary lymphadenopathy biopsy: Castleman’s disease. Gluco-mineralocorticoid substitution and levothyroxine therapy were started with clinical improvement. Autologous hematopoietic cell transplantation (HCT) was planned, cyclophosphamide induction was started. Meanwhile the patient suffered two ischemic strokes which resulted in aphasia and hemiparesis. Cerebral angiography revealed vascular lesions compatible with vasculitis and stenosis of two cerebral arteries. The patient deceased 14 months after the diagnosis. The young age at presentation, multiplicity of manifestations and difficulties in investigation along with the absence of serum monoclonal protein made the diagnosis challenging. We report this case to highlight the need to consider POEMS syndrome in differential diagnosis of peripheral neuropathy in association with endocrine abnormalities even in young patients. Learning points: POEMS syndrome is considered a ‘low tumor burden disease’ and the monoclonal protein in 15% of cases is not found by immunofixation. Neuropathy is the dominant characteristic of POEMS syndrome and it is peripheral, ascending, symmetric and affecting both sensation and motor function. Endocrinopathies are a frequent feature of POEMS syndrome, but the cause is unknown. The most common endocrinopathies are hypogonadism, primary hypothyroidism and abnormalities in glucose metabolism. There is no standard therapy; however, patients with disseminated bone marrow involvement are treated with chemotherapy with or without HCT.
<b><i>Background:</i></b> <i>Chlamydia trachomatis</i>-lymphogranuloma venereum (LGV) is a sexually transmitted infection (STI) and an uncommon cause of proctitis. The diagnosis requires a high index of clinical suspicion, since the clinical, imaging, endoscopic, and histological findings can mimic multiple benign or malignant conditions like inflammatory bowel disease and rectal neoplasms. <b><i>Case Presentation:</i></b> We present the case of a 48-year-old Caucasian male with no significant previous medical history who was admitted due to the suspicion of a rectal neoplasia. He underwent an abdominopelvic computed tomography (CT) scan and pelvic magnetic resonance imaging (MRI) before admission due to complaints of anorectal pain, hematochezia, and constipation over the previous 2 weeks. The examination revealed a circumferential rectal wall thickening, infiltration of the perirectal fat and invasion of the mesorectal fascia, associated with perirectal fat lymphadenopathy. A radiological diagnosis of a rectal malignant neoplasia staged as T4N2MX was stated. Digital rectal examination identified a circumferential rectal tumor. Rectosigmoidoscopy showed an extensive and circumferential ulceration of the rectal mucosa, with elevated geographical borders, exudate, and aphthoid erosions at the proximal limit of the endoscopic mucosal ulceration. Biopsy specimens revealed acute ulcerative proctitis with lymphoplasmocytic inflammatory infiltrate but no evidence of dysplasia or malignancy. A STI screening was positive for HIV-1 (CD4+ 251/mm<sup>3</sup>; <i>N</i> = 700–1,100) and <i>C. trachomatis</i>, with an elevated IgA-specific antibody titer (52.000; <i>N</i> < 5.0), suggesting LGV disease. The diagnosis was confirmed by the identification of <i>C. trachomatis</i> DNA on rectal swab. Other infectious causes of acute proctitis were excluded. When faced with these results, the patient ended up mentioning that he had unprotected anal sex with men. He started treatment with doxycycline 100 mg twice a day for 21 days, with a drastic improvement. Rectosigmoidoscopy was repeated and showed clear signs of progressive resolution of the ulcerative proctitis. <b><i>Discussion:</i></b> LGV-associated proctitis, often undervalued, is a reemerging disease which should always be considered a benign cause of rectal mass, in order to avoid delay in diagnosis and development of complications. Diagnosis becomes more challenging in patients with unknown HIV status. A detailed clinical history, including sexual behaviors, is a vital step to achieve the final diagnosis.
Boerhaave syndrome (BS) is a rare but potentially fatal condition. Although surgery is considered the standard treatment, endoscopic therapy has acquired an important role as a minimally invasive management approach. The authors describe 2 cases of middle-aged male patients, presenting with spontaneous esophageal perforation after severe straining and vomiting. In the first case, the patient presented with a bone impaction in the upper esophagus successfully removed by rigid esophagoscopy. After the procedure, a chest X-ray/cervicothoracic computerized tomography scan (CT) showed a left hydropneumothorax and pneumomediastinum with oral contrast leak at the lower esophagus. In the second case, the patient presented to the Emergency Department with severe chest pain after an episode of vomiting. The CT showed a massive pneumomediastinum, subcutaneous emphysema, and an oral contrast leak compatible with BS. The patient was initially submitted to surgical suture, but contrast extravasation persisted after 12 days. After multidisciplinary team discussion of both patients, an upper gastrointestinal endoscopy was performed, which revealed pericentimetric wall defects at the distal esophagus. These were successfully closed using an over-the-scope clip (OTSC). After at least a 9-month follow-up, patients have remained clinically well with no relapse. The authors highlight the severity of these clinical cases and the endoscopic option that proved to be decisive in addressing BS. The favorable outcomes suggest a role for the OTSC approach in closing spontaneous esophageal perforation both as first-line and as rescue therapy after a surgical failure.
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