Autoimmune hemolytic anemia in children: Clinical presentation and treatment outcome.

BACKGROUND: Autoimmune hemolytic anemias (AIHA) are characterized by the destruction of red cells following the production of autoantibodies directed against them. Although AIHA in children is usually self-limiting, many still succumb to the illness due to delay in the diagnosis and treatment. AIHA in children may be secondary to autoimmune diseases, drugs, or immune deficiencies. Early diagnosis and appropriate immunohematological evaluation can aid in the diagnosis and treatment. OBJECTIVE: To analyze the evaluation, treatment, and outcome of AIHA in children. METHODS: Prospective data of patients aged 0-18 years diagnosed with AIHA between June 2017 and May 2019 were collected. INTERVENTION: Prednisolone was the first-line agent in all; second-line agents included cyclosporine and rituximab. Red cell transfusion was given in those with severe anemia with cardiac decompensation. RESULTS: Eleven patients were diagnosed during the study period. Hemoglobin ranged from 1.2 to 9 g/dl. The initial presentation was severe anemia in 8 children and moderate anemia with thrombocytopenia in 3. The trigger was infection in 5. Polyspecific direct coomb's test (DCT) was positive in 10 patients. 2/10 polyspecific DCT-positive cases on further evaluation had immunoglobulin G (IgG) and C3d positivity, whereas rest 8 had only IgG. One infant was diagnosed with DCT-negative immunoglobulin A-mediated AIHA. 4/11 attained remission following the short course of prednisolone. Cyclosporine was used as the second-line agent in 2 and rituximab was used in 3. Seven children are in sustained remission and off medication. One died within 12 h of diagnosis. CONCLUSION: AIHA is not an uncommon problem in children and can vary in its clinical severity. Early and correct diagnosis helps in deciding appropriate treatment.

Nora's lesion of 2nd metacarpal treated by wide excision, autologous fibular grafting and metacarpophalangeal joint replacement: A rare case report.

Bizarre paroxysmal osteochondromatous proliferation (BPOP) is a rare benign neoplastic lesion predominantly affecting small bones of the hand and known for its recurrence after local excision. We describe a rare case of BPOP involving second metacarpal of the dominant hand which was treated using a novel technique. Wide excision and reconstruction with non-vascularised fibular autograft was performed along with metacarpophalangeal joint replacement. At a follow up of two years, there was no evidence of recurrence and patient had good functional outcome. Hence this modality of treatment could be considered in dealing such cases of BPOP involving the small bones of hand.

Immunohistochemical characterization of glandular elements in glandular cardiac myxoma: Study of six cases.

Back ground: Glandular cardiac myxoma has varying clinical presentation with uncertain histogenesis and debatable immunohistochemical profile. Glandular epithelial differentiations are rare phenomenon known to be present as an intrinsic component of the tumor. The origin of the glands has been attributed to epithelial differentiation of a totipotent cardiomyogenic precursor cells or the entrapped foregut rests in the tumor. MATERIALS AND METHODS: Retrospective study includes six cases of glandular cardiac myxoma collected over a perior of 4 years. Sections were examined to define the histogenesis, histological and immunohistochemical profile of the glandular elements. RESULTS: Incidence of glandular cardiac myxoma was 6.6% with a male to female ratio of 1:2.Mean age was 49.9 years. Left atrium was the commonest site. Five were sporadic and one was familial. Chest pain and dyspnea were the commonest clinical symptoms. Histologically all myxoma showed well formed glandular structures with typical myxomatous area. No atypia, mitosis or necrosis was identified in the glandular elements. Markers in six cases of glandular cardiac myxoma were immunopositive for CK7, CK 19, EMA, CEA, focally for E-cadherin while immunonegative for CK20, Chromogranin, Synaptophysin, calretenin, vimentin, B-catenin, TTF-1 and GCDFP-15 favoring enteric differentiation. CONCLUSION: Glandular cardiac myxoma is a rare entity which shows characteristics similar to those of classical cardiac myxoma with benign glandular elements showing enteric differentiation. Complete surgical excision is the treatment of choice with good prognosis. It is important to recognize this entity to avoid an erroneous diagnosis of metastatic adenocarcinoma.

Familial biatrial cardiac myxoma with glandular elements: A Rare entity with review of literature.

Cardiac myxomas are benign neoplasm of the heart with an incidence of 0.3%. Glandular cardiac myxomas are very rare and accounts for less than 3% of all cardiac myxomas. Here, we report a case of familial glandular cardiac myxoma in a 35 year old male who complained of exertional dyspneoa and weakness of right side of body on clinical presentation. Associated features of Carney's complex were not present. Family history revealed presence of cardiac myxoma in younger brother and sister. Transthoracic echocardiography detected biatrial myxoma. Excision of both lesions was done under cardiopulmonary bypass. Histopathology confirmed myxoma with glandular elements. Postoperative course was uneventful.

Immunofluorescence on paraffin embedded renal biopsies: Experience of a tertiary care center with review of literature.

AIM: To describe the technique of immunofluorescence on paraffin embedded tissue sections and discuss the potential pitfalls with an in depth review of literature. METHODS: Immunofluorescence is integral to diagnostic renal pathology. Immunofluorescence on paraffin embedded renal biopsies (IF-P) after enzyme treatment has been described in literature, however has not found widespread use in renal pathology laboratories. In our laboratory proteinase K digestion of paraffin embedded renal biopsy material was standardized and applied prospectively in cases where immunofluorescence on fresh frozen tissue was non contributory or not possible. Diagnostic utility was assessed and in a cohort of cases comparison of intensity of staining with routine immunofluorescence was performed. RESULTS: Over the 5-year study period, of the 3141 renal biopsies received IF-P was performed on 246 cases (7.7%) and was interpretable with optimal digestion in 214 cases (6.8%). It was of diagnostic utility in the majority of cases, which predominantly included glomerular disease. Non-diagnostic IF-P was found in membranous nephropathy (2 of 11 cases), membranoproliferative glomerulonephritis (2 of 32 cases), lupus nephritis (1 of 25 cases), post infectious glomerulonephritis (1 of 11 cases) and chronic glomerulonephritis (3 of 8 cases). Comparing cases with both routine IF and IF-P, 35 of 37 showed either equal intensity or a minor difference in intensity of staining (1+) for the diagnostic immunoglobulin/complement. Technically assessment of immunofluorescence on the paraffin embedded tissue was found to be easier with clearly observed morphology, however a false positive staining pattern was observed in under-digested tissue. CONCLUSION: As a "salvage" technique, immunofluorescence on paraffin embedded renal biopsies is of great diagnostic utility, however not without pitfalls.

Angiomyomatous hamartoma of lymph nodes: Clinicopathological study of 6 cases with review of literature.

Angiomyomatous hamartoma (AMH) is a rare disease with predisposition for inguinal and femoral lymph nodes. Histologically, it is characterized by replacement of lymph nodal parenchyma with irregularly distributed thick walled blood vessels, haphazardly arranged smooth muscle cells, variable amount of fat and fibrous tissue in a sclerotic lymphatic stroma. Few cases have also been reported in popliteal and sub - mandibular location. The exact pathogenesis is still not known. Although this entity is very rare, its recognition is important in discriminating it from other benign and malignant vascular lesions of lymph nodes.

Sclerosing liposarcoma of the anterior mediastinum: An unusual case.

Liposarcomas are extremely rare in the mediastinum. Patients usually present late due to the compressive effect of the tumor on the adjacent structures. Severity of the symptoms depend mainly on the size of the tumor and the structure it infiltrates. Well differentiated slow growing liposarcomas are the most common ones in the mediastinum followed by dedifferentiated and poorly differentiated ones. These tumors have bad prognosis because of incomplete surgical excision due to its inaccessible location. Hence these patients should be kept under close follow up because of high recurrent rates. Here we are presenting a rare case of anterior mediastinal sclerosing liposarcoma in a 77 year old male.

Synchronous existence of granular cell tumor and small cell carcinoma of lung: An unusual entity.

Granular cell tumor (GCT) is a rare benign mesenchymal tumor that uncommonly occurs in the lung and tracheobronchial tree. Small cell carcinoma of lung is a centrally located malignant neoplasm that commonly occurs in elderly smokers. Concomitant existence of both the neoplasm in lung is extremely rare with only one reported case in the literature. Few rare combinations of GCT with other primary bronchogenic carcinomas have also been reported. Clinical symptoms depend upon the site and size of the tumor. Definitive diagnosis is by histopathological and proper immunohistochemical analysis. Identification of this entity is important as treatment requires individual therapy protocols that depend on the presence of metastasis, location of the tumors, and type of bronchogenic carcinoma.

Extrapulmonary Small Cell Carcinoma - a Case Series of Oropharyngeal and Esophageal Primary Sites Treated with Chemo-Radiotherapy.

BACKGROUND: The optimal sequence and extent of multimodality therapy remains to be defined for extrapulmonary small cell carcinoma because of its rarity. The purpose of our study was to assess the response to neoadjuvant chemotherapy followed by chemoradiation/radiation in patients with extrapulmonary small cell carcinoma. MATERIALS AND METHODS: Four consecutively diagnosed patients were included in this study. The primary tumor site was oropharynx in three patients and esophagus in one. The patients with the limited disease were treated with chemotherapy followed by concurrent chemoradiation (n=2) or radiotherapy (n=1). The patient with the extensive disease with the primary site in vallecula was treated with chemotherapy and palliative radiotherapy to the metastatic site. RESULTS: The median follow-up was 22.5 months (range, 8-24 months). Three patients with the limited disease (base of tongue, n=2; esophagus, n=1) were in complete remission. The patient with the extensive disease died of loco-regional tumor progression at 8 months from the time of diagnosis. CONCLUSIONS: The combination of chemotherapy and radiotherapy is the preferred therapeutic approach for patients with extrapulmonary small cell carcinoma. Induction chemotherapy followed by concurrent chemoradiation or radiation provides a good loco-regional control in patients with limited disease.

Uterine Adenomatoid Tumors: A Study of Five Cases Including Three Cases of the Rare Leiomyoadenomatoid Variant.

OBJECTIVE: Adenomatoid tumor is a benign neoplasm of mesothelial origin encountered most often in the male and female genital tracts. This tumor has a distinct morphology and is characterized by anastomosing and variably sized tubules lined by epithelioid and flattened cells. Only 4 cases of the extremely rare leiomyoadenomatoid variant are on record. We report 5 cases of adenomatoid tumor including 3 cases of leiomyoadenomatoid tumor of the uterus, which is an extremely rare variant of adenomatoid tumor, difficult to recognize on morphology. METHOD: A detailed histopathological review of all the uterine tumor diagnosed as fibroid and adenomatoid tumor over the period of 4 years was done. RESULTS: A total of 5 cases of adenomatoid tumor were documented including 3 cases of leiomyoadenomatoid variant. CONCLUSION: Leiomyoadenomatoid variant of adenomatoid tumor often missed both on imaging and histopathological examination and hence needs to be recognized as a distinct morphological entity.

Primary pulmonary leiomyosarcoma of lung: An unusual entity with brief review.

Primary pulmonary leiomyosarcomas are rare and diagnostically challenging group of neoplasms approximately constituting 0.2-0.5% of all primary lung malignancies. They originate from the smooth muscle cells of the bronchial wall, blood vessels or from the pulmonary interstitium. Here we present a case of 45 year old male with history of chronic cough, breathlessness and chest pain for few months. Clinical and radiological workup showed a left upper lobe lung mass. Endobronchial ultrasound guided (EUS) needle biopsy of the mass on histopathology confirmed leiomyosarcoma. Further through evaluation ruled out the possibility of metastasis. A final diagnosis of primary leiomyosarcoma of lung was made and patient was planned for surgical management.

Surgical experience of primary salivary gland tumors of lung: A case series.

INTRODUCTION: Primary salivary gland type tumors of lung (PSGTTL) are rare intra-thoracic malignant neoplasm. Their description in literature is largely limited to a few case series/case reports. We herewith present our surgical experience of and review its clinical presentation, management options and survival outcomes. METHODS: This retrospective analysis of prospectively maintained computerized data-base of patients was conducted in a tertiary teaching oncology centre in North India. The case records of all the patients who underwent surgery for PSGTTL were reviewed. Details concerning the clinical presentation, preoperative therapy, operative procedure, histopathological examination, postoperative complications and outcome were retrieved from the case records. RESULTS: There were seven patients who underwent surgery for PSGTTL during the period from January 2012 to December 2014. Hemoptysis (n = 6, 85.7%) and dyspnoea (n = 6, 85.7%) were common presenting clinical features. Fiber-optic bronchoscopy revealed endobronchial growth in all patients - five patients had growth in left main bronchus while one each had growth in right main bronchus and right intermediate bronchus. Biopsy confirmed adenoid cystic carcinoma in 4 (57.1%) and muco-epidermoid carcinoma in 3 (42.9%) patients. All but one had R'0' resection - pneumonectomy in five and bilobectomy in one patient; one patient was found to be unresectable in view of dense adhesions between lung and heart. Median pathological tumor size was 3.5 cm; none of the patient was found to have metastatic spread to lymph nodes. Overall, six patients are alive after a median follow up of 5 months (range 1-30). CONCLUSION: Radical surgery to achieve R'0' resection is the main stay of treatment of PSGTTL to achieve prolonged survival.

Disseminated cryptococcosis with adrenal and lung involvement in an immunocompetent patient.

Disseminated cryptococcosis usually occurs in immunocompromised patients. Occasionally, it affects immunocompetent persons and mimics tuberculosis in clinical presentation and radiological findings. Usually, it affects lungs and central nervous system. Rarely, it may affect adrenal glands. We present a case of 65-year-old gentleman with prolonged pyrexia. Computed Tomography (CT) scan of chest and abdomen showed miliary pattern in the chest with bilateral adrenal masses. On the basis of clinical and radiological findings, the case was initially diagnosed as disseminated tuberculosis and anti tubercular treatment was started. Subsequently, on histopathological examination, the diagnosis was confirmed as disseminated cryptococcosis. Even in a country with high prevalence of tuberculosis, other causes of miliary mottling should be considered and histopathological examination should be sought.

Intraosseous primary malignant peripheral nerve sheath tumor of the calcaneus: an unusual case and review of literature.

Malignant peripheral nerve sheath tumors (MPNSTs) are uncommon sarcomas that originate from a peripheral nerve or neurofibroma either spontaneously or in association with neurofibromatosis type 1. MPNSTs account for approximately 5% of all soft tissue malignancies. The tumor is commonly seen in the extremities and trunk. Most of these tumors are high-grade with the potential to recur and metastasize. Common metastatic sites include the lungs, bone, and pleura. Primary intraosseous MPNST is rare, and the diagnosis of intraosseous MPNST, especially in an unusual location is difficult because of its cellular origin, histomorphological similarities with other sarcomas, and bone is the most common site for metastasis. We report an unusual case of MPNST of the calcaneus in a young male.

Myeloid sarcoma of the breast in an aleukemic patient: a rare entity in an uncommon location.

Myeloid sarcoma (MS) is an extramedullary solid neoplasm of immature myeloid cells. These tumours usually develop in concurrence with or following acute leukemia. The breast is an uncommon site for presentation of this tumour, where it is often misdiagnosed as lymphoma or carcinoma.A 33- year-old female presented with a right breast lump in a private hospital, which was diagnosed as ductal carcinoma on lumpectomy. Subsequently she developed a lump in the left breast and a similar diagnosis of carcinoma was made on biopsy. A left mastectomy was performed. Histopathological examination revealed a tumour composed of mononuclear cells arranged in sheets and cords with round to oval vesicular nuclei and occasional prominent nucleoli. IHC for CK was very weak and focal. The tumour cells were immunonegative for ER, PR, Her2neu,epithelial membrane antigen, e-cadherin, CD3 and CD20. Diffuse immunopositivity for myeloperoxidase, CD34 and CD117 established a diagnosis of myeloid sarcoma. A histopathological review of the right breast lesion, with immunohistochemistry, also confirmed the diagnosis of myeloid sarcoma. Investigatory workup for acute myeloid leukemia, including bone marrow aspirate and biopsy and karyotypic studies, proved negative. The patient was treated with high dose cytarabine (HDAC) regimen and was disease free during the 12-month follow-up.Although extremely rare, awareness of such a presentation is crucial. This case also illustrates that careful histopathological review along with an expanded panel of immunohistochemistry is extremely important for recognizing such cases as a misdiagnosis can lead to unnecessary surgery and inappropriate therapy.

Intraparotid facial nerve schwannoma: A case report.

Facial nerve schwannoma occurring within the parotid gland is a rare tumour. We report a case of schwannoma within the parotid gland in a young female patient, who underwent ultrasound and magnetic resonance imaging (MRI) and subsequent surgical excision of the lesion. The lesion showed hyperintensity on T2-weighted and diffusion-weighted MRI. There was no adjacent lymphadenopathy. Although hyperintensity on diffusion-weighted MRI could suggest malignant tumours, the characteristic "string sign" provided the clue for the diagnosis of schwannoma.

Disseminated Aspergillus flavus following septic arthritis in an immunocompetent patient: a case report.

BACKGROUND: Aspergillosis is a rare cause of osteomyelitis and septic arthritis. Aspergillus osteomyelitis is a debilitating infection affecting both immunocompromised and immunocompetent patients. It is associated with a high incidence of morbidity and mortality. Infection with Aspergillus flavus species in the knee has been very rarely seen in the past. CASE PRESENTATION: We present a case of septic arthritis of the knee in an Indian patient secondary to infection with Aspergillus flavus, which was earlier managed as a case of tuberculosis based on the endemicity of the condition, later leading to disseminated aspergillosis. There was no clinical feature or investigation suggesting immunocompromised state. Following knee arthrotomy, Aspergillus flavus was isolated and patient was subsequently managed with antifungals leading to recovery after three months. CONCLUSIONS: Disseminated aspergillosis can mimic tuberculosis both clinically and radiologically. Though fungal infections affect joints rarely but they must always be ruled out to avoid later complications.