Hemophagocytic lymphohistiocytosis following enteric fever: A rare autopsy case report.

ABSTRACT: Hemophagocytic lymphohistiocytosis (HLH) is a severe and frequently underdiagnosed disorder of systemic immune dysregulation resulting in hypercytokinemia and histologically evident hemophagocytosis, We report a case of a 34-year-old man who presented with breathlessness, generalized weakness, and fever of unknown origin with pancytopenia. Clinically the patient was admitted for febrile illness, and treated symptomatically but his general condition worsened leading to death within 21 hours of admission. A complete autopsy was performed. The deceased had a significant past history of repeated episodes of fever, weight loss, and axillary lymphadenopathy over a period of 8 months with multiple hospital admissions. He was also diagnosed with enteric fever (Widal test and Typhi IgM positive) at the start of these episodes. Hemogram during this period revealed persistent pancytopenia. Serum ferritin, serum triglycerides, and liver function tests were consistently deranged. Investigations for the etiology of fever and blood cultures were negative while the bone marrow aspirate revealed a normocellular marrow. CT abdomen-pelvis showed mild hepatomegaly with enlarged retroperitoneal lymph nodes. Infective endocarditis, lymphoma, and bronchopneumonia were being considered the clinical diagnoses. The significant autopsy findings were hepatosplenomegaly with retroperitoneal lymphadenopathy and multiple gastric ulcers. On microscopy, the liver, spleen, bone marrow, and lymph nodes showed characteristic hemophagocytosis. Post-mortem histopathological examination clinched the diagnosis of HLH and fulfilled six out of eight diagnostic criteria of the HLH-2004 protocol. We discuss the clinical course and diagnosis of this unique case and strive to create awareness about secondary HLH induced by common diseases, such as enteric fever.

Genomics of myelodysplastic/myeloproliferative neoplasm.

Myelodysplastic/ Myeloproliferative neoplasms (MDS/MPN) demonstrate overlapping pathologic and molecular features of myelodysplastic (MDS) and myeloproliferative (MPN) neoplasms. Diagnosis is difficult based on morphology alone, requiring exclusion of various non-neoplastic causes for CBC abnormalities and morphologic findings and other myeloid neoplasms. Identifying a clonal abnormality by cytogenetics or molecular studies has vastly improved our ability to diagnose MDS/MPN and has been incorporated in the different classification schemas. Currently two separate classification systems are in use- The 5th edition WHO and international consensus classification. The two competing classifications emphasize genetic work-up and are similar on many levels; however, they do introduce diagnostic dilemma when diagnosing certain entities such as chronic myelomonocytic leukemia in the presence of NPM1 mutations. The genetic profile overlaps among different subentities; however, the combination and the incidence of mutations; together with the clinical features and morphology helps in further subclassification. In this review, we discuss the advances in molecular characterization of MDS/MPN. We attempt to summarize the differences between the various classification schemes, and highlight the changes made in the diagnostic criteria.

Hydroxocobalamin infusion in a patient monitored for plasma free hemoglobin levels.

Hemolysis is one of the most common preanalytical concerns in the clinical laboratory. Hydroxocobalamin administration causes red pigmentation of plasma that may mimic hemolysis and may interfere with chemistry assays. A male patient in his sixties was placed on extracorporeal membrane oxygenation (ECMO) as a bridge to transplantation. Daily plasma free hemoglobin measurements were ordered to monitor for adverse ECMO events. An intensely red plasma specimen was inconsistent with modestly elevated hemoglobin levels and became pink on dilution. Follow-up with providers indicated that the red plasma could be attributed to hydroxocobalamin administration. Performance of scanning spectrophotometry and assessment of a sample spiked with hydroxocobalamin indicated that the red colored hydroxocobalamin did not interfere with our 3,3',5,5'-tetramethylbenzidine based methodology for free plasma hemoglobin measurement. It is important for the laboratory professionals to be aware of the possibility of interference in hemoglobin assays due to hydroxocobalamin.

Isolated Intraventricular Rosai-Dorfman Disease.

Rosai-Dorfman disease (RDD) is a benign histioproliferative disorder characterized by generalized lymphadenopathy, weakness, anemia, and rarely extranodal involvement. The disease affects the central nervous system (CNS) very rarely and at a relatively older age. Isolated intracranial involvement is very rare. RDD tends to present as dural masses mimicking meningioma, though very rare case reports describe isolated parenchymal involvement in the CNS. Only one case of intraventricular RDD has been described so far to the best of our knowledge. We present a very rare presentation of this disease as an isolated intraventricular presentation in the region of the atria of the lateral ventricles.

Pure Uterine Lipoma: A Common Tumour at an Uncommon Site.

Although lipomas are very common tumours, pure uterine lipomas are extremely rare. Their reported incidence is 0.03-0.2%. They commonly present with symptoms similar to that due to leiomyoma except that they occur in post menopausal elderly females. We report a case of 70-year-old elderly female, who presented with third degree uterovaginal descent. A total vaginal hysterectomy was done for her. The hysterectomy specimen showed presence of a well circumscribed uterine fundal lipoma. We report this case because of its rare occurrence in the uterine fundus.