Collapsing Glomerulopathy in a Patient with a TRPC6 Mutation Presenting as Rapidly Progressive Glomerulonephritis: A Case Report and Review of the Literature.

Collapsing glomerulopathy (CG) is a proliferative disease characterized by segmental or global wrinkling of the glomerular basement membrane and the formation of pseudocrescents, whereas focal segmental glomerulosclerosis (FSGS) is characterized by podocytopenia, and focal and segmental sclerosis of the glomeruli. Mutations in NPHS1, NPHS2, WT1, PLCE1, CD2AP, ACTN4, and TRPC6 have been reported in steroid-resistant FSGS patients. The mutations p.R895C and p.R895L in Exon 13 are the only ones in TRPC6 causing CG reported to date. Here, we present the case of a 17-year-old male patient with a collapsing variant of familial FSGS caused by a mutation in TRPC6 (p.R895C) who presented with rapidly progressive (crescentic) and proliferative glomerulonephritis.

De novo myeloid sarcoma as a rare cause of small bowel obstruction: CT findings and histopathologic correlation.

Small bowel obstruction caused by myeloid sarcoma in a patient with any hematological abnormality is very rare. Myeloid sarcoma occurs most commonly in patients with acute myelogenous leukemia (AML) and less with other hematological disorders. A 57-year-old female presented with abdominal pain, nausea, vomiting, and constipation. Radiological studies showed concentric bowel thickening in distal ileum that caused nearly total luminal compromise and signs of obstruction in proximal ileal bowel loops. She underwent laparotomic surgery and ileal resection was done. Diagnosis of myeloid sarcoma was made by histopathological examination of surgical specimens. Bone marrow biopsy was done to rule out systemic acute myelogenous leukemia (AML). Results of bone marrow biopsy were within normal limits. Finally, the patient was diagnosed as de novo myeloid sarcoma. Although the histopathological examination makes a definitive diagnosis, imaging allows to locate the lesion, evaluate its complications, and guide for correct biopsy. Accurate diagnosis of myeloid sarcoma has important prognostic value as transformation to AML can happen without chemotherapy or stem cell transplantation.

Tuberculous peritonitis mimicking carcinomatosis peritonei: CT findings and histopathologic correlation.

The distinction between tuberculous peritonitis and peritoneal carcinomatosis is extremely difficult in patients with omental cake appearance on computed tomography and elevated CA-125 level. A 21-year-old female presented with abdominal distention, diarrhea, nausea, fever, weight loss, and night sweats. Serum CA-125 level was 563 U/L (normal range: <35 U/L) and other tumor markers were within normal range. Radiologic studies showed massive ascites, smooth minimal thickening and increased contrast enhancement of peritoneum, omental nodularities, hepatomegaly, and right pleural effusion. No underlying malignancy that could cause this condition was detected clinically and radiologically. Ultrasound-guided omental tru-cut biopsy was performed to exclude carcinomatosis peritonei. Histopathologic examination showed small-medium-sized granulomas with caseous necrosis. Molecular microbiology tests of biopsy specimens confirmed diagnosis of tuberculosis. In conclusion, tuberculous peritonitis should be in differential diagnosis of a patient with ascites, omental nodularities and elevated serum CA-125 levels.

TAFRO Syndrome: A Case Report from Turkey and Review of the Literature.

TAFRO syndrome is a rare subtype of the Castleman's disease which has been described over the last years. The name of TAFRO syndrome comes from thrombocytopenia, anasarca, myelofibrosis, renal dysfunction, and organomegaly. We report a young Turkish male patient presented with fever, night sweats, fatigue, nausea, bilateral pretibial pitting edema, abdominal pain and watery diarrhea. PET/CT revealed multiple lymphadenopathies in cervical, axillary, mediastinal, paraaortic, mesenteric and inguinal lymph nodes. Excisional lymph node biopsy showed atretic germinal centers and expanded interfollicular areas, containing sheets of plasma cells. The R-CHOP regimen was started, and his signs and symptoms improved after the treatment. The current case confirms the unique presentation of this syndrome, helping to understand its clinical course and treatment strategy.