Cold autoimmune hemolytic anemia with myelodysplastic syndrome: Not just an "Open and Shut case".

Myelodysplastic syndromes (MDSs) are clonal hematopoietic stem cell neoplasms characterized by bone marrow failure leading to ineffective hematopoiesis, dyspoiesis, and cytopenias with a risk of progression to acute leukemia. Immunological syndromes have been reported to occur along with MDS in literature. However, cold autoimmune hemolytic anemia (AIHA) has rarely been reported in association with MDS. Herein, we report a case of an elderly male who presented with fever and cytopenias. He was being treated as a case of megaloblastic anemia in the past with no response to therapy. At present admission, the peripheral blood smear examination revealed red cell agglutination, thrombocytopenia with 4% blasts. Cold agglutinin disease was confirmed by a thermal agglutination test and bone marrow evaluation showed adequate megakaryocytes with 10% blasts; consistent with the diagnosis of MDS with excess blasts (MDS-EB2). Cytogenetic studies revealed multiple abnormalities. This report is being discussed in view of its rarity of presentation of cold AIHA with MDS.

Apple Peel Deformity and Malrotation of Gut: Autopsy Findings of a Rare Cause of Mortality in Utero.

One-third of all intestinal obstructions in the newborn are caused by atresias. The most common site is the duodenum followed by jejunoileal and colonic locations. Herein we report the autopsy findings of a rare case of jejunoileal atresia associated with malrotation of gut. Autopsy performed on a 36 weeks old male fetus still birth, born of a non-consanguineous marriage, demonstrated jejunoileal atresia with apple peel deformity and malrotation of gut. Although the diagnosis was established in the prenatal period, in utero fetal demise occurred before definitive surgical intervention could be done. This case highlights the importance of early diagnosis and intervention.

Magnetic Resonance Imagery Findings in Androgen Insensitivity: A case series.

Androgen insensitivity syndrome (AIS) is a sex-development disorder resulting from mutations in the androgen receptor. In its complete form, patients are genetically male but phenotypically female, presenting with primary amenorrhea. We report three cases of AIS highlighting the multifaceted role of magnetic resonance imaging (MRI) for presurgical planning by evaluating location and type of gonads and detecting complications. All patients presented at the Gynaecology Out-patient Department of Command Hospital, Bangalore, India, between 2013-2016 with primary amenorrhea and MRI accurately localised testes in all; one patient had bilateral inguinal testes; two had intraabdominal testes. Intraabdominal testes were not localised on ultrasonography. MRI also depicted Sertoli cell adenomas and Wolffian duct remnants. MRI provides comprehensive imaging before surgical treatment and can, thus, be considered a 'one-stop shop' for AIS imaging. All patients underwent laparoscopic gonadectomy which is the standard of care, with preoperative counselling about fertility. Postoperatively, they were started on oestrogen therapy.

Fatal sickling-associated microvascular occlusive crisis in a young with sickle cell trait.

Sickle cell trait (SCT), a heterozygous state characterized by hemoglobin AS, occurs commonly in sub-Saharan Africa, South America, Central America, India, and the Mediterranean countries. SCT is compatible with a normal lifespan and is not commonly regarded as a cause of morbid illness or death compared to its homozygous counterpart. We describe a case of fatal sickling-associated microvascular crisis, identified on post mortem evaluation in a previously undiagnosed 21-year-old military recruit with sickle cell trait. The individual presented with repeated syncope episodes during his training and was autopsied in the pursuit of cardiac anomalies and heat syncope. During the terminal episode, he collapsed and died of severe metabolic complications as he struggled to complete an organized run during routine training activities. To our knowledge, this is the first report of fatal sickling-associated crisis in a military recruit with sickle cell trait from India. This case serves to remind all armed forces and sports physicians of the importance of screening a recruit who is unable to complete exertional physical training for the presence of sickle cell trait.

Isolated CNS relapse in FLT 3 mutation positive CMML post allogeneic stem cell transplant: Report of a rare case.

Chronic myelomonocytic leukemia is a clonal chronic hematopoietic disorder that has been classified under the category of Myelodysplastic syndrome/Myeloproliferative neoplasms (MDS/MPN). CMML has high chances of transforming to acute leukemia, however isolated CNS relapse in CMML has never been reported in literature. We report an extremely rare case of a 47 yearold female diagnosed to have CMML- 2 in remission, who developed an isolated central nervous system relapse after matched related allogeneic hematopoietic stem cell transplantation. To our knowledge this is the first report of isolated CNS relapse in CMML post allogeneic stem cell transplant.

Chemotherapy-Associated Pulmonary Toxicity-Case Series from a Single Center.

Background Pulmonary toxicity due to chemotherapeutic agents can occur with many established and new drugs. Strong clinical suspicion is important as the clinical presentation is usually with nonspecific symptoms like cough, dyspnea, fever, and pulmonary infiltrates. Timely discontinuation of the offending agent alone can improve the condition. Methods A prospective observational study on patients receiving chemotherapy at an 800-bedded tertiary care hospital was performed from 2014 to 2016. Consecutive patients on chemotherapy, presenting with nonresolving respiratory symptoms were evaluated with contrast-enhanced computerized tomography of chest, diffusion lung capacity for carbon monoxide (DLCO), fiberoptic bronchoscopy with lavage, and biopsy, after excluding all causes for pulmonary infections. Descriptive data has been depicted. Results A total of 18 patients were evaluated for persistent symptoms of dry cough, dyspnea, and fever among 624 who received chemotherapy during the study period. Ground-glass opacities on high-resolution CT was the most common imaging finding, others being patchy subpleural consolidation and pleural effusion. Lymphocyte-predominant bronchoalveolar lavage was detected in nine. Eight of the 15 patients who underwent DLCO, had abnormal results. Seven had significant histopathological findings on bronchoscopic lung biopsy, which revealed organizing pneumonia as the most common pattern. Paclitaxel, fluorouracil, gemcitabine, and tyrosine kinase inhibitors were the common culprit drugs. Discontinuation alone of the culprit drug was effective in 15 and 3 needed oral corticosteroids for relief of symptoms. None of the patients died due to the toxicity. Conclusion An incidence of 2.8% for chemotherapy-induced lung injury was seen in our observational study of 3 years, with parenchymal, interstitial, and pleural involvement due to various chemotherapeutic agents. Oral steroids maybe required in a subset of patients not responding to discontinuation of the culprit agent.

Fatal sickling-associated microvascular occlusive crisis in a young with sickle cell trait

Sickle cell trait (SCT), a heterozygous state characterized by hemoglobin AS, occurs commonly in sub-Saharan Africa, South America, Central America, India, and the Mediterranean countries. SCT is compatible with a normal lifespan and is not commonly regarded as a cause of morbid illness or death compared to its homozygous counterpart. We describe a case of fatal sickling-associated microvascular crisis, identified on post mortem evaluation in a previously undiagnosed 21-year-old military recruit with sickle cell trait. The individual presented with repeated syncope episodes during his training and was autopsied in the pursuit of cardiac anomalies and heat syncope. During the terminal episode, he collapsed and died of severe metabolic complications as he struggled to complete an organized run during routine training activities. To our knowledge, this is the first report of fatal sickling-associated crisis in a military recruit with sickle cell trait from India. This case serves to remind all armed forces and sports physicians of the importance of screening a recruit who is unable to complete exertional physical training for the presence of sickle cell trait.

A Study of the Clinical Profile, Radiologic Features, and Therapeutic Outcomes in Neurosarcoidosis from Two Tertiary Care Centers in Southern India.

BACKGROUND: Sarcoidosis is an inflammatory granulomatous disease affecting multiple organ systems. Neurological manifestations are rare and seen in approximately 5% cases of sarcoidosis. They may commonly precede the diagnosis of sarcoidosis. Since there is paucity of Indian literature on this subject, we decided to review the clinical and radiological profile, laboratory abnormalities, treatment and long-term outcomes in our patients with neurosarcoidosis (NS). METHODS: The study was done by retrospective review of medical records for all cases diagnosed as NS during the period Jan 2014-Jan 2018. These cases were classified as definite, probable, and possible NS, on the basis of established diagnostic parameters (Zajicek criteria). The follow-up record in these cases ranged from 6 months to 3 years, with special emphasis on monitoring the response to treatment and long-term disability. RESULTS: The cases showed varied clinical abnormalities and imaging findings. Cranial neuropathies and myelopathy were the most common clinical presentations. Optic neuritis was most common cranial neuropathy, followed by facial nerve palsy and lower cranial nerve palsies. Most common magnetic resonance imaging findings were T2 hyperintense parenchymal lesions and meningeal enhancement. There was strong correlation between baseline clinico radiological parameters and long-term outcomes, as evidenced by relatively poor prognosis seen in cases with bilateral optic neuritis, myelopathy and imaging evidence of hydrocephalus, or leptomeningitis. CONCLUSION: The diagnosis of NS requires a high degree of suspicion, coupled with exclusion of alternate diagnosis. It commonly precedes the onset of systemic sarcoidosis. Central nervous system involvement in sarcoidosis is associated with poor clinical outcomes.

Correlation between transbronchial lung biopsy and lung cytology / Correlación entre la biopsia pulmonar transbronquial y la citología pulmonar

Respiratory diseases are an important cause of morbidity and mortality worldwide. Although conventional histopathology is the gold standard for their diagnosis, cytology is a useful adjunctive diagnostic test. In the present study we evaluated the efficacy of cytology in providing a rapid diagnosis. We included lesions which were both visible and not visible on bronchoscopy. We evaluated the role of bronchoalveolar lavage (BAL), brush cytology and imprint smears both separately and in combination, and compared them with the histopathological findings of transbronchial lung biopsy (TBLB). Among 100 cases the highest concordance was seen between imprint cytology (77.78%) and biopsy for malignancy, followed by bronchoalveolar lavage (40.91%) and brush cytology (40.00%). The concordance and level of agreement between cytology and biopsy was very poor in general for non-neoplastic lesions. However, it increased when BAL and imprint smears (42.50%) were performed together, compared to other combinations. We recommend a combination of cytological techniques in suspected cases of malignancy, as more useful than a single test, and to include imprint smears in all cases. However, biopsy remains the gold standard for diagnosis in non-neoplastic lung disease

Las enfermedades respiratorias contribuyen considerablemente a la morbimortalidad de la población mundial. Aunque la histopatología convencional es el referente para diagnosticar las enfermedades respiratorias, la citología es una prueba complementaria útil para dicho diagnóstico. En el presente estudio evaluamos la eficacia de la citología a la hora de aportar un diagnóstico rápido. El estudio incluyó lesiones visibles e invisibles a la broncoscopia. Evaluamos el rol del lavado broncoalveolar (BAL), la citología con cepillo y la impronta citológica de manera separada y conjunta, y realizamos una comparación con los hallazgos histopatológicos de la biopsia pulmonar transbronquial (BPTB). Entre los 100 casos estudiados, la mayor concordancia se observó entre la impronta citológica (77,78%) y la biopsia para tumores malignos, seguidas del BAL (40,91%) y la citología con cepillo (40%). La concordancia y nivel, de acuerdo entre la citología y la biopsia fue muy débil en general para las lesiones no neoplásicas. Sin embargo, el resultado se incrementó al utilizarse conjuntamente el BAL y la impronta citológica (42,5%), en comparación con otras combinaciones. Recomendamos una combinación de técnicas citológicas en casos de sospecha de malignidad, ya que resultan más útiles que una prueba única, así como la inclusión de impronta citológica en todos los casos, para obtener mejores resultados. Sin embargo, la biopsia sigue siendo el referente a la hora de diagnosticar las lesiones pulmonares no neoplásicas

Correlation between transbronchial lung biopsy and lung cytology.

Respiratory diseases are an important cause of morbidity and mortality worldwide. Although conventional histopathology is the gold standard for their diagnosis, cytology is a useful adjunctive diagnostic test. In the present study we evaluated the efficacy of cytology in providing a rapid diagnosis. We included lesions which were both visible and not visible on bronchoscopy. We evaluated the role of bronchoalveolar lavage (BAL), brush cytology and imprint smears both separately and in combination, and compared them with the histopathological findings of transbronchial lung biopsy (TBLB). Among 100 cases the highest concordance was seen between imprint cytology (77.78%) and biopsy for malignancy, followed by bronchoalveolar lavage (40.91%) and brush cytology (40.00%). The concordance and level of agreement between cytology and biopsy was very poor in general for non-neoplastic lesions. However, it increased when BAL and imprint smears (42.50%) were performed together, compared to other combinations. We recommend a combination of cytological techniques in suspected cases of malignancy, as more useful than a single test, and to include imprint smears in all cases. However, biopsy remains the gold standard for diagnosis in non-neoplastic lung disease.

Hibernoma: A missed diagnosis!!

Hibernoma is a rare, benign soft tissue tumor described in <200 case reports/case series. It is slow-growing, painless, and commonly mistaken for lipoma or liposarcoma. Histopathological diagnosis is must for confirmation. Total excision is the treatment of choice. We present a rare case of hibernoma of thigh, which was initially misdiagnosed as atypical lipomatous tumor/well-differentiated liposarcoma on imaging, which turned out to be a hibernoma on histopathological examination.

Recurrent pregnancy loss: can factor V Leiden mutations be a cause.

The role of Factor V Leiden (FVL) mutation in recurrent miscarriages has been disputed. It has been hypothesized that FVL mutation in patients with recurrent miscarriages is treatable. In this study, we evaluated 78 pregnant women for FVL mutations, among whom 50 had a history of recurrent miscarriages. Only 1 (2%) of the woman was positive for heterozygous FVL mutation. The incidence of FVL mutations in patients with recurrent pregnancy loss had an odds ratio of 1.72 (95% confidence interval, 0.0681-43.8257; P>0.05). However, the findings were not statistically significant. Thus, we suggest that FVL mutation study may not be included in the battery of tests for recurrent miscarriages in the Indian population.

Is Crush Cytology of Central Nervous System Lesions Relevant in Surgical Practice Today?

BACKGROUND: Intraoperative crush cytology is a useful tool for diagnosing the lesions of the central nervous system (CNS). However, because of the development of newer and better imaging techniques, it is important to evaluate if crush cytology is still relevant in neurosurgical practice. AIMS: We evaluated the crush cytology smears in a series of cases where neurosurgical intervention was performed. We studied the role of crush cytology in the intraoperative diagnosis. We report a series of cases where intraoperative crush cytology helped the surgeon revise the surgery during the operation. MATERIALS AND METHODS: A small portion of all CNS lesions was taken intraoperatively and the tissue was crushed between two slides. The slide was stained using the toluidine blue, Leishman stain, Pap stain and a routine H & E stain. The slides were the evaluated. RESULTS: We evaluated the 50 cases of CNS lesions. We found that intraoperative crush cytology is particularly important in differentiating between neoplastic and nonneoplastic CNS lesions. It may also help in differentiating lymphomas from high-grade gliomas. Finally, crush cytology may help the surgeon in delineating the lesions during surgery. CONCLUSION: We conclude that crush cytology remains relevant in neurosurgical practice today and it should be adopted in all neurosurgical centers as a routine diagnostic technique.

Autopsy in dengue encephalitis: An analysis of three cases.

Dengue viral infection with unusual presentations has been described in literature, but autopsy is rarely done and is only limited to some cases, based on the literature review. Here, we present the autopsy findings in three cases of dengue encephalitis. All the three patients clinically presented with signs of meningoencephalitis and were positive for dengue non-structural (NS) 1 antigen (Ag) in the serum and cerebrospinal fluid. The postmortem findings revealed cerebral edema, inflammation, hemorrhage, and microinfarcts in all the three cases with herniation of the brain in one case. Sub-massive hepatocellular necrosis was seen in one case. The renal findings included hemorrhage into the Bowman's capsule with red cell cast in two of three cases. The pulmonary findings included a diffuse destruction of the alveoli and hemorrhage into the alveolar spaces in all the three cases.

A 37-year-old male with extensive cerebral venous thrombosis: Clinicopathological correlation of a rare case.

We present the autopsy findings and differential diagnosis of a 37-year-old immunocompetent male patient who presented primarily with extensive cerebral vein thrombosis and was found to have a rare association with JAK2V617F mutation positivity.

Fatal meningococcal septicemia without meningeal signs, contribution of the peripheral smear in diagnosis: Report of a case.

Acute meningococcemia is characterized by extensive purpurae consisting of both petechiae and ecchymoses. This condition can be rapidly fatal without treatment due to shock and severe consumptive coagulopathy. We report a case of fatal meningococcal septicemia in a military recruit who presented with fever and associated rapidly progressive purpuric rash (purpura fulminans) without any meningeal signs. Evaluation revealed evidence of disseminated intravascular coagulopathy and multiorgan failure. Diplococci were demonstrated in peripheral blood neutrophils and monocytes. On autopsy, extensive hemorrhages were found in both adrenals, lungs, liver, skin, and kidneys with secondary hemophagocytic lymphohistiocytosis in bone marrow. This report highlights useful information obtained from examination of peripheral blood smear in purpura fulminans.

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 αIIbß3 [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.