Primary orbital yolk sac tumor in an infant: A rare entity

We report a case of pure orbital yolk sac tumor (YST) in an 11-month-old infant, which is a rare entity. The child presented with progressive painless swelling of the right eye and on examination had proptosis, chemosis, and lid edema. Systemic examination was within normal limits. Magnetic resonance imaging (MRI) orbit revealed a lobulated heterogeneously enhancing right retroocular mass extending up to the orbital apex, displacing the optic nerve and eroding the medial orbital wall. Biopsy of the lesion revealed pure YST histology. Serum alpha-fetoprotein (AFP) was markedly raised at 76900 ng/mL. She was started on infant bleomycin etoposide cisplatin (BEP) chemotherapy protocol. There was a good clinical and radiological response. A high index of malignancy is required in young children presenting with orbital proptosis. A multidisciplinary approach and early intervention are essential to save both vision and life.

Papillary tumor in pineal region: Immunohistochemistry meeting the diagnostic challenge

Papillary tumor of pineal region (PTPR) is extremely rare and poses diagnostic challenge with other central nervous system tumors having papillary architecture. Immunohistochemistry is crucial for a definitive diagnosis of PTPR.

Plasmablastic lymphoma of bone marrow: Report of a rare case and immunohistochemistry based approach to the diagnosis

Plasmablastic lymphoma (PBL) is a distinctly rare neoplasm believed to arise from post-germinal center, terminally differentiated, activated B cells before transformation to plasma cells; and predominantly affecting human immunodeficiency virus (HIV) infected or immunodeficient males. Here, we report a rare case of primary PBL of bone marrow in an immunocompetent male, the diagnosis of which is complicated by the overlapping morphology and immunophenotype with several large cell lymphomas and plasma cell neoplasms; and showing dramatic response to anti-CD30 monoclonal antibody based therapy. We discuss the immunohistochemistry based approach and the possible diagnostic pitfalls in such cases. The inclusion of markers of plasmablastic differentiation in the diagnostic panel of large cell lymphomas is essential to avoid misclassification of these rare lymphomas.

Evaluation of biomarkers: Galactomannan and 1,3-beta-D-glucan assay for the diagnosis of invasive fungal infections in immunocompromised patients from a tertiary care centre

Purpose: Due to limitations of traditional microbiological techniques, standardised fungal biomarker tests such as Galactomannan Index (GMI) and 1,3-beta-D-glucan (BDG) are being preferred for diagnosis of invasive fungal infections (IFIs). These tests have been extensively used in developed countries but seldom in developing countries. The present study was performed to evaluate these tests for the diagnosis of IFIs in immunocompromised patients at an Indian tertiary care centre. Materials and Methods: A retrospective hospital-based study was done in immunocompromised patients with clinical suspicion of IFI. The demographic, clinical, radiological and mycological details of the patients were recorded. The patients were categorised into proven, probable and no IFI (as per European Organization for Research and Treatment of Cancer/Mycoses Study Group criteria). The sensitivity and specificity of BDG Fungitell and Platelia Aspergillus antigen assays was estimated. Results: A total of 70 consecutive patients were included, of which 41 had IFI (10 proven and 31 probable) while 29 had no IFI. A significant association was found between IFI and the presence of a central venous line (P = 0.035) and history of intake of T-cell immunosuppressants (P = 0.001). Median BDG values (pg/ml) in patients with proven IFI, probable IFI and no IFI were 300 (range: 70�0), 165 (range: 53�0) and 45 (range: 31�0), respectively. The receiver operating characteristic (ROC) curve analysis for BDG revealed an area under the curve of 0.995, sensitivity: 97.4% and specificity: 96.6% for IFI diagnosis. The ROC curve analysis of GMI revealed an AUC of 0.75 and 90% patients with invasive aspergillosis (IA) had positive GMI. Conclusion: BDG has good sensitivity and specificity for distinguishing IFI from no IFIs and GMI may be used for diagnosing IA.

Free living amoebae in water sources of critical units in a tertiary care hospital in India.

Background: Isolation of free‑living amoebae (FLA) is reported sparsely from water taps, ventilators, air conditioners, haemodialysis units and dental irrigation systems of hospitals worldwide. Their prevalence in hospital environment especially in wards having immunocompromised patients may pose a risk to this group of susceptible population as they may cause disease themselves or may carry pathogens inside them. No study from India has performed such surveillance. Objective: To evaluate extent of FLA contamination in water sources of bone marrow transplant (BMT) intensive care unit (ICU), transplant ICU, haemodialysis unit and high dependency unit in a tertiary care hospital in India. Materials and Methods: A total of hundred samples including fifty each of tap water samples and swabs from mouth of taps used for drinking, bathing and hand washing purposes in these units were collected according to standard procedure. Samples were inoculated onto non‑nutrient agar plates at room temperature followed by morphological confirmation. Molecular identification including polymerase chain reaction (PCR) and sequencing was performed in culture positive samples. Results: Four tap water samples and ten swab samples showed growth of trophozoites and cyst formation. Morphologically, four amoebae resembled Acanthamoeba spp. which was further confirmed by PCR and sequencing showed them to be of T3 and T4 genotypes. Conclusion: The presence of these FLA in hospital water sources emphasises the urgent need of implementing effective preventive measures. Further studies are required to estimate the true prevalence of FLA in Indian hospitals by taking larger number of samples.

Pattern of major congenital anomalies and their outcome.

Background: Congenital anomalies are one of the most common causes of morbidity in developed and developing countries. Early detection and prevention of birth defects is necessary to further reduce the morbidity and mortality in neonates. Objective: The study was to know the common congenital anomalies and their outcome in a tertiary referral centre. Material and Methods: Study included 859 admissions in neonatal ICU Department of Paediatrics in a tertiary care hospital from January 2012 to December 2012. Neonates with congenital anomalies were diagnosed by clinical examination and appropriate investigations with exclusion criteria of minor anomalies. Medical or surgical intervention was done accordingly. Results: Out of 859 admissions 59 were diagnosed to be suffering from congenital anomalies. The results showed a prevalence of congenital anomalies of 6.8% and out of that major cases were of GI disorders in the tune of 75% followed by nervous system disorders to the tune of 19%. 84.7% patients were males and 15.3% were females which could be because of the gender bias in the society though we cannot confirm it. Conclusion: As compared to other studies GI disorders appear to be more common and by improvement in antenatal, postnatal diagnosis, early referral to tertiary hospital and early intervention most of these infants can be saved.

Macrodystrophia Lipomatosis: A Case Report.

Macrodystrophia Lipomatosa is a rare cause of congenital macrodactyly characterized by progressive proliferation of all mesenchymal elements, with disproportionate increase in fibroadipose tissue. This anomaly is reportedly more common in the foot than in the hand with predilection for the plantar and median nerve distribution. This rare cause of gigantism of limb can be confused with other common causes like congenital lymphedema. We report a case of 2 years old female child presenting in outdoor as a painless progressive enlargement of index finger, middle finger and thumb of right hand since 6 months of age causing mechanical difficulty.

Detection of paroxysmal nocturnal hemoglobinuria-phenotype in patients with chronic lymphocytic leukemia and multiple myeloma.

Background : Paroxysmal nocturnal hemoglobinuria (PNH) results due to decrease or absence of glycosylphosphatidylinositol-anchored (GPI) molecules, such as CD55 and CD59, from the surface of the affected cells. PNH-phenotype has been described in various hematological disorders, mainly aplastic anemia and myelodysplastic syndromes; recently it has been reported in patients with lymphoproliferative syndromes and multiple myeloma (MM). Materials and Methods : We evaluated the presence of CD55 negative and/or CD59 negative red blood cell (RBC) populations in newly diagnosed treatment naive-54 chronic lymphocytic leukemia (CLL) and 29 MM patients by flow cytometry. Results : PNH-phenotype was not reported in any patient; however, RBC populations deficient in CD55 were detected in 16.66% (9/54) CLL and 6.89% (2/29) MM patients. Clinical presentation or the hematological parameters did not show any relationship with the presence of CD55 deficient RBC population. Conclusion : Our study showed absence of PNH-phenotype in patients with CLL and MM; however, isolated CD55 deficient RBC were identified in both CLL and MM. Larger prospective studies by other centers, including simultaneous analysis of granulocytes for the presence of PNH-phenotype, are needed to corroborate these findings and to work out the mechanisms and the significance of the existence of this phenotype in these patients.

Cytomegalovirus pneumonia in adult acute lymphoblastic leukemia.

Cytomegalovirus (CMV) is an important cause of morbidity and mortality in immunosuppressed patients. Though acute lymphoblastic leukemia (ALL) is an immunosuppressed state, CMV disease has been reported infrequently. We present a patient of adult B lineage ALL who was on maintenance chemotherapy and developed CMV pneumonia. Patient was managed with intravenous ganciclovir and had successful outcome. However, three weeks later patient had a relapse of ALL and died shortly after high dose chemotherapy.

Respiratory syncytial virus is not an important community acquired pathogen in adult hematological malignancy patients.

Respiratory syncytial virus (RSV) has been reported as a leading cause of upper and lower viral respiratory tract infection in high-risk adult populations. We prospectively studied 48 patients with hematological malignancies over a period of 2 years. Throat and nasal washings were subjected to immunofluorescence and cell culture for virus isolation. Of these 48 patients, 31 had acute leukemia, 6 had chronic leukemia, 10 had lymphoma and one had multiple myeloma. The median age of the patients was 20 years with a male to female ratio of 4:1. No RSV was detected in any of the samples. RSV was not found as a major cause of community acquired upper respiratory tract infections in adults with hematological malignancies in India.

Small cell carcinoma of the ovary presenting as bone marrow metastasis: a rare presenting feature.

Small cell carcinoma (SCC) of ovary-hypercalcaemic type is a rare cancer of young pre-menopausal women of unclear histogenesis. Bone metastasis and bone marrow infiltration by ovarian carcinomas is a rare feature and only a few case reports are available in the literature. Herein we report a case of small cell carcinoma-hypercalcaemic type of both the ovaries with bone marrow infiltration and features of metastatic calcification in various organs.

Cryptococcal meningitis in acute lymphoblastic leukemia.

The occurrence of cryptococcal meningitis in acute lymphoblastic leukemia (ALL), despite being immunosuppresed state is uncommon. We report a 28-year gentleman in the maintenance treatment phase of ALL developing cryptococcal meningitis. The diagnosis was made by positive India ink staining and detection of cryptola antigen by latex agglutination. The patient was successfully treated with amphotericin B. The rarity of this condition in ALL is briefly discussed.

Prevalence of anemia in adult rural population of north India.

OBJECTIVES: To find the prevalence of anemia in adult males and non-pregnant females of rural north Indian population. METHODS: During an epidemiological survey on hypertension in rural population of north India (n=2559), a random sample of 215 individuals underwent blood investigations including hemoglobin estimation. RESULTS: The overall prevalence of anemia in 16-70 years of age group was 47.9% (n=215), being 50% (n= 136) among females and 44.3% (n=78) among males. Low socioeconomic status, illiteracy and lower body mass index, were associated with higher prevalence of anemia. CONCLUSIONS: The finding of higher prevalence of anemia in adult males need further investigation and corroboration in other studies. The intervention for anemia should be directed on the community as a whole.

Fatal 2,4-D (ethyl ester) ingestion.

2,4-D (2,4-dichlorphenoxyacetic acid) is widely used in agriculture and forestry to destroy broad leaved weeds (herbicide). It has a moderate mammalian toxicity and human poisoning has rarely been reported except following ingestion with suicidal intent. We report two young adults who ingested it with suicidal intent, developed neurological, cardiac, hepatic and renal toxicity and died.

Isolated lipid abnormalities in rural and urban normotensive and hypertensive north-west Indians.

BACKGROUND: Lipid abnormalities are common in patients with hypertension. The prevalence of isolated lipid abnormalities is not known in normotensive and hypertensive population of north-west India. METHODS: We studied the prevalence of isolated low high density lipoprotein cholesterol (IL-HDLC), isolated high low density lipoprotein cholesterol (IH-LDLC) and isolated high triglycerides (IH-TG) abnormalities among rural and urban normotensive and hypertensives of north-west India. RESULTS: The prevalence of lipid abnormalities was 47.6% and 51.4% in rural normotensives and hypertensives and 43.8% and 46.8% in urban normotensives and hypertensives respectively. The prevalence of IL-HDLC varied from 3.8% to 23.7% among hypertensives and 19.4% to 30.4% among normotensives. The prevalence of IH-TG abnormalities was 11.8% to 18.8% among hypertensives and 7.0% to 15.4% among hypertensives. The prevalence of isolated high LDLC abnormalities was low (0.8-9.2%). There was no significant difference in these abnormalities in relation to age and sex except IH-LDLC in male hypertensives. CONCLUSION: Isolated low HDLC and isolated high TG were the commonest isolated lipid abnormalities among rural and urban population of north-west India whereas isolated high LDLC was uncommon.

Epidural abscess and Staphylococcus aureus endocarditis - a rare association.

Epidural abscess is a relatively uncommon disorder. Although the surgical management is the mainstay of treatment, there are case reports of it being managed conservatively in selected patients. We report a patient who presented with quadreparesis due to epidural abscess and had infective endocarditis due to Staphylococcus aureus septicemia. Both epidural abscess and infective endocarditis were managed conservatively with intravenous antibiotics given for four weeks, with complete recovery of patient.