Congenital dyserythropoietic anemia type II-A rare case report.

ABSTRACT: Congenital dyserythropoietic anemia type II (CDA II), initially described as hereditary erythroblastic multinuclearity with a positive acidified serum test (HEMPAS), is a rare genetic disease inherited in an autosomal recessive mode that presents with mild to severe anemia. The occurrence of this entity is quite uncommon and requires extensive work-up for a conclusive diagnosis. Here, we are reporting a case of two-year-old male child who presented with severe anemia, abdominal distension, and delayed milestones. Evaluation of bone marrow aspirate suggested the possibility of CDA which led to molecular work-up by whole exome sequencing with detection of c.1142C>T (p.Thr381lle) variant in SEC23B (NM_006363.6) gene.

18 F-FDG PET/CT of Alveolar Rhabdomyosarcoma of Prostate in a 17-Year-Old Boy.

ABSTRACT: Rhabdomyosarcoma of the prostate is a rare malignancy that usually presents in childhood and adolescence with symptoms of bladder outlet obstruction. Serum prostate-specific antigen is usually normal, and 18 F-FDG PET/CT has a crucial role to rule out distant metastases. We present a case of alveolar rhabdomyosarcoma of the prostate in a 17-year-old boy.

Solitary Fibrous Tumor of the Umbilical Region in a Pediatric Patient.

Background: Fibrous tumors are rare tumors of mesenchymal origin arising in the serosal surfaces within the body. Although commonly seen in adults, solitary fibrous tumors rarely occur in children. Histopathology and immunohistochemistry are the methods of choice for diagnosing solitary fibrous tumors. Case Report: A 2-year-old male presented with a swelling over the umbilicus for the prior 8 months. The umbilical mass was excised and sent for histopathologic examination. The skin-covered greyish soft tissue mass measured 6 × 5.5 × 4.5 cm, and the cut surface showed a homogenous greyish growth. On microscopic examination, a predominantly well-circumscribed encapsulated tumor was noted, with spindle shaped cells arranged in a haphazard manner and ectatic vascular channels. The cells were immunoreactive for CD34 and signal transducer and activator of transcription 6 (STAT6) and negative for smooth muscle actin, desmin, myogenin, MyoD1, CD99, epithelial membrane antigen, and beta-catenin. Conclusion: The aim of this case is to make clinicians aware of the umbilicus as a rare site of solitary fibrous tumor in children and the diagnostic importance of STAT6.

Role of Automated Volume, Conductivity and Scatter (VCS) Parameters of Neutrophils as Indicators of Sepsis.

This study was done to evaluate the role of automated volume, conductivity and scatter (VCS) parameters of neutrophils as indicators of sepsis and its differentiation from other inflammatory disorders. In this cross-sectional study, 225 patients with culture proven or with clinical evidence of sepsis were included along with an equal number of healthy controls. In addition, 138 patients with non-infective inflammatory conditions-acute pancreatitis (50), burns (45) and acute myocardial infarction (43) were also included. Complete blood count was done on LH750 automated hematology analyser (Beckman Coulter). VCS data; mean neutrophil volume (MNV), mean neutrophil conductivity (MNC) and mean neutrophil scatter (MNS) for all patients was recorded. MNV was high (p < .0001) while MNS was lower (p < .0001) in patients with sepsis compared to the control group. MNC was comparable between the two groups (p = .4735). On subgroup analysis of patients with sepsis, significant difference in MNV (p = .0009) and MNS (p = .0210) was observed in patients with leukopenia, normal TLC and leucocytosis. Youden Index was maximum (71%) at MNV of 144.6 (sensitivity-82.7%; specificity-88.5%) and MNV of 147.9 (sensitivity-75.6%; specificity-95.6%) for sepsis. On comparing patients with sepsis with acute pancreatitis and myocardial infarction, MNV and MNC were significantly higher in patients with sepsis. MNV is a useful, inexpensive parameter which can be accessed during a routine CBC run from the raw data. It can be utilized as an early indicator of sepsis as an adjunct to the clinical diagnosis in suspect patients. However, its availability in only select hematology analyzers may limit its use.

Evaluation of Bone Marrow Findings of COVID-19 by Minimally Invasive Autopsies: A Single Tertiary Care Centre Experience from India.

The 2019 novel coronavirus (2019-nCoV) originated in Wuhan City of China. In India, first confirmed case of coronavirus disease (COVID-19) was reported on January 30, 2020 and India is presently hit by second wave of COVID-19. The aim of the present study was to evaluate bone marrow findings of COVID-19 by minimally invasive autopsies to aid in understanding pathophysiology of the disease. This prospective study was conducted at tertiary care centre of Western Rajasthan. After obtaining approval from Institute's ethics committee and consent from next of kins, minimally invasive autopsies were conducted in 37 COVID-19 deceased patients within an hour after the death. The tissue specimens were processed with standard biosafety measures. Electronic medical records were reviewed retrospectively and patients' clinical details and results of laboratory investigations were noted. In this prospective study, bone marrow biopsies were collected from 37 COVID-19 minimally invasive autopsies. Mean age of these cases was 61.8 years and male: female ratio was 2.36. Comorbidities were observed in 25 (67.5%) of all cases. Histopathological analysis revealed hypercellular, normocellular and hypocellular marrow in 5, 25 and 5 cases respectively (two biopsies were inadequate). There was marked interstitial prominence of histiocytes in 24 (68.5%) cases. Out of these, evidence of haemophagocytosis was observed in 14 (40%) cases, marked increase of haemosiderin laden macrophages in 20 (57.1%) cases. There was prominence of plasma cells in 28 (80%) cases. The present study attempted to fill the gap of dearth of literature from our country in COVID-19 autopsy studies by highlighting bone marrow findings. The data support the evidence of development of secondary haemophagocytic lymphocytosis in COVID-19 cases.