Deepti Mutreja

Double heterozygous hemoglobin Q India/hemoglobin D Punjab hemoglobinopathy: Report of two rare cases.

Cation exchange high performance liquid chromatography (CE HPLC) provides an excellent tool for accurate and reliable diagnosis of various hemoglobin (Hb) disorders. HbQ India is a rare alpha chain variant that usually presents in the heterozygous state. Its presence in double heterozygous state with HbD Punjab is extremely rare. The double heterozygosity for α and β chain variants leads to formation of abnormal heterodimer hybrids, which can lead to diagnostic dilemmas. We report two rare cases of double heterozygous HbQ India/HbD Punjab where the hybrid Hb was seen to elute at retention time similar to HbC on CE HPLC. The first case had unconjugated hyperbilirubinemia at presentation; while, the second case was asymptomatic.

Aberrant Immunophenotypic Expression of CD5 in a Case of B Acute Lymphoblastic Leukemia: A Case Report

Abstract Aberrant expression of CD5 has rarely been reported in B cell lineage acute lymphoblastic leukemia (B-ALL). We report the rare immunophenotypic expression of CD5 in a 20-year-old male who was diagnosed to have B-ALL on bone marrow examination. Cytogenetic analysis revealed a mosaic supernumerary marker chromosome. The patient died due to acute pancreatitis after admission. CD5 positive B-ALL may represent a distinct clinicopathologic subcategory of B-ALL with an aggressive clinical course.

Pseudotumoral hepatic tuberculosis with pericardial abscess

We report the postmortem findings in a 28-year-old immunocompetent male patient, a rare case of tuberculous liver abscesses with concomitant pericardial abscess in the absence of pleuropulmonary or splenic involvement, who continued to be a diagnostic dilemma. This case report illustrates the difficulty in reaching the correct diagnosis in case of hepatic masses, which are most often confused with carcinoma of the liver, primary or metastatic and, hence, have been aptly referred to as pseudotumoral hepatic tuberculosis in the past.

Hereditary and Acquired Thrombophilia in Splanchnic Vein Thrombosis A Single-Center Experience

The purpose of this study was to characterize differences in the prevalence of hereditary and acquired thrombophilia in patients with splanchnic vein thrombosis (SVT). A total of 88 consecutive patients with SVT, including Budd Chiari Syndrome (n = 47) and portal extrahepatic portal vein obstruction (n = 41), underwent comprehensive thrombophilia testing, including testing for heritable and acquired causes. In 33 (37.5%) patients, etiology could be explained by at least 1 of the heritable etiologic factors, and 31 (35.2%) patients could be explained by at least 1 of the acquired causes studied. The combination of multiple concurrent factors was present in 9 (11.4%) patients. Among the heritable causes, the risk of SVT was found increased in the presence of thrombophilia resulting from the deficiencies of the naturally occurring anticoagulant proteins, and the acquired thrombogenic factors were significantly associated with causation of thrombosis in adult patients with SVT.

Applicability of a Single 5 Color Cytoplasmic Markers Tube as Primary Panel in Routine Immunophenotyping of Acute Leukemia

Background: Immunophenotyping in acute leukemia is a routine practice for lineage assignment. Conventionally a primary panel with surface markers are applied first followed by cytoplasmic markers as secondary panel in the diagnosis of acute leukemia.We in this present study aim to assess the relevance of a single 5 color “CD45, MPO, CD79a, CD3, Tdt” cytoplasmic markers combination to be utilized as primary panel. Methods: Sensitivity and specificity of different subset of positive negative combination of these markers were retrospectively analyzed in the 458 acute leukemia cases. Results: MPO or cCD3 positivity alongwith cCD79a negativity was 100% specific diagnosis for AML and T-ALL respectively. Furthermore, cCD79a positivity along with MPO and cCD3 negativity was 97.2% specific for B-ALL diagnosis. MPO and cCD79a dual positivity was found 100% sensitive and 92.6% specific for MPAL (B-My) diagnosis. MPO and cCD3 dual positivity was 100% sensitive and specific for MPAL (T-My) diagnosis. Conclusion: We found a good correlation of this single tube diagnosis when compared with standard morphology, cytochemistry, and flow cytometry based diagnosis. We hope our this cytoplasmic panel may help to design a precise extended immunophenotypic panel for acute leukemia diagnosis and may also be a cost effective approach in resource constrained developing countries.

Evaluation of platelet surface glycoproteins in patients with Glanzmann thrombasthenia: Association with bleeding symptoms

Background & objectives: Glanzmann thrombasthenia (GT) is a rare, inherited autosomal recessive disorder characterized by qualitative or quantitative deficiency of integrin αIIbβ3 [glycoprotein IIb (GPIIb)/IIIa, CD41/CD61] diagnosed by absent or reduced platelet aggregation to physiological agonists, namely, collagen, adenosine-di-phosphate, epinephrine and arachidonic acid. The objective of this study was to quantitate platelet surface GPs, classify GT patients and relate the results with the severity of bleeding and platelet aggregation studies. Methods: Fifty one patients of GT diagnosed by platelet aggregation studies were evaluated for the expression of CD41, CD61, CD42a and CD42b on platelet surface by flow cytometry. The association between the clinical phenotype based on bleeding score and GT subtype on flow cytometric evaluation was assessed. Results: Twenty four (47%) patients of GT were classified as type I (as CD41/CD61 were virtually absent, <5%), six (11.8%) patients as type II (5-20% CD41/CD61) and 21 (41.2%) as type III or GT variants as they had near normal levels of CD41 and CD61. Type III GT patients had significantly lower numbers of severe bleeders (P=0.034), but the severity of bleeding did not vary significantly in type I and II GT patients. In all GT patients, mean CD41 expression was found to be lower than mean CD61 expression (P=0.002). Interpretation & conclusions: Type I GT was found most common in our patients and with lowered mean CD41 expression in comparison with CD61. Type III GT patients had significantly lower numbers of severe bleeders, but the severity of bleeding did not vary significantly in type I and II GT patients.

Severity of anemia and hemostatic parameters are strong predictors of outcome in postoperative neurosurgical patients

Objective: Post-operative neurosurgical patients are commonly associated with haemostatic derangements; many a times leading to development of overt disseminated intravascular coagulation (DIC) and eventually death in some of them. The present study has analysed the factors that would predict the outcome in post operative neurosurgical patients with deranged haemostatic parameters. Methods: This is a prospective, descriptive study over a period of 15 months on 115 post operative neurosurgical patients who were clinically suspected to have DIC and investigated for the haemostatic parameters. Patients with at least one parameter abnormal were included in the study and complete data was available in 85 patients was analysed. Results: Majority of deaths (22/33, 66.7%) were related to bleeding and end organ failure attributed to DIC. The most common haemostatic abnormalities found were thrombocytopenia with prolonged Prothrombin time (PT) in 48/115 (42.7%) patients. The parameters found significantly different between those who survived and those died were age, post-operative development of chest infections, severe anemia, and renal function abnormalities. Also, patient outcome correlated strongly with marked prolongation of prothrombin time (PT) and Partial thromboplastin time (PTT). However, presence of ≥3 coagulation abnormalities, presence of significant drop in haemoglobin post operatively and /or development of chest infection predicted death in postoperative neurosurgical patients with accuracy of 80.4% and this was highly significant (P = 0.000). Conclusion: Presence of ≥3 coagulation abnormalities, significant drop in hemoglobin post operatively and /or development of chest infection post-operatively were strong predictors of death in postoperative neurosurgical patients.

Hepatosplenic gamma delta T-cell lymphoma in a boy with visceral leishmaniasis: a case report

IntroductionHepatosplenic gamma delta T-cell lymphoma is a rare peripheral T-cell lymphoma of cytotoxic T-cell origin with an aggressive clinical course. Chronic immunosuppression has been proposed as a possible pathogenetic mechanism. No association of hepatosplenic gamma delta T-cell lymphoma with visceral leishmaniasis has been described in the past. We describe a case of an adolescent boy with hepatosplenic gamma delta T-cell lymphoma with leukemic presentation, who was diagnosed to have visceral leishmaniasis, 9 months prior to presentation at our center. To the best of our knowledge this is the first report of hepatosplenic gamma delta T-cell lymphoma with a prior history of visceral leishmaniasis in the medical literature.Case presentationA 13-year-old Indian boy presented to the hematology out-patient department with a history of progressive abdominal distension of 9 months’ duration and low grade fever of 2 months’ duration. He was a known case of visceral leishmaniasis and was treated with some clinical improvement in the past. However, his symptoms recurred and he was diagnosed to have hepatosplenic gamma delta T-cell lymphoma at our center. Cytogenetic analysis showed characteristic karyotype of isochromosome 7.ConclusionsChronic antigen stimulation due to visceral leishmaniasis may have led to an expansion of gamma delta T cells in our patient, and immunophenotypic analysis of bone marrow aspirate and characteristic karyotype helped to achieve the diagnosis. The aim of this case report is to highlight the rare association of hepatosplenic T-cell lymphoma with visceral leishmaniasis.

A 54-year-old male with rapidly progressive neurologic syndrome: Clinicopathologic correlation of a rare diagnosis

Diagnosis of systemic lupus erythematosus (SLE) as primary presentation with central nervous system involvement as a rapidly progressive neurologic syndrome is extremely rare. We present a rare case of a 54-year-old hypertensive male patient, who presented with a fulminant neurologic syndrome. He presented with cerebellar and meningeal signs, aseptic meningitis and had a rapid downhill course following admission. A postmortem revealed feature of systemic connective tissue fulfilling diagnostic criteria of SLE with lupus cerebritis.

A 36-year-old man with vomiting, pain abdomen, significant weight loss, hyponatremia, and hypoglycemia.

Diagnosis of Strongyloides stercoralis hyperinfection can be a challenge. The key to a timely diagnosis is to have a high index of suspicion. We present a rare case of a 36-year-old human immunodeficiency virus negative male patient, who was on multidrug therapy for lepromatous leprosy and was treated for type 2 lepra reactions with steroids in the past. The patient presented with vomiting and pain abdomen, persistent hyponatremia, and terminal hypoglycemia. He had features of malnutrition and had a rapid downhill course following admission. A diagnosis of S. stercoralis hyperinfection with sepsis and multiorgan failure, adrenal hemorrhage, and syndrome of inappropriate antidiuretic hormone secretion was established on a postmortem examination.