Devika Gupta

Primary primitive neuroectodermal tumor of kidney: A rare case report with diagnostic challenge

Primary primitive neuroectodermal tumors (PNETs) of the kidney are quite rare and can be mistaken for a wide variety of other small round blue cell tumors which includes rhabdomyosarcoma, Wilms tumor, carcinoid, neuroblastoma, clear cell sarcoma of the kidney, lymphoma etc. Renal Ewings/PNET can occur in the age group from 4 to 61 years. Approximately, 90% of Ewing sarcoma (ES)/PNET have a specific t(11;22) which results in a chimeric EWS-FLI-1 fusion protein. Immunohistochemical for the carboxy-terminus of FLI-1 is sensitive and highly specific for the diagnosis of ES/PNET. Herein, we have an interesting presentation in a 23-year-old male who came with neck pain and progressive quadriparesis and was diagnosed as a case of poorly differentiated malignant tumor with a differential of lymphoma versus metastatic renal cell carcinoma. The patients condition deteriorated fast and he had a rapid downhill course. The final diagnosis of Ewings/PNET was confirmed at autopsy.

Mycophenolate mofetil or cyclophosphamide in indian patients with lupus nephritis: Which is better? A single-center experience

Mycophenolate mofetil (MMF) is used extensively for the induction therapy of lupus nephritis (LN) and has even outpaced intravenous (i.v.) cyclophosphamide (CyP) as the initial choice of therapy. There are no studies comparing the response of MMF with standard dose i.v. CyP in Indian patients with LN. We conducted a 24-week prospective, randomized, open-label trial comparing oral MMF with monthly i.v. CyP as induction therapy for active biopsy proven Class III and IV LN. The primary end-point was response to treatment at 24 weeks, and the secondary end-points were complete remission, Systemic Lupus Erythematosus Disease Activity Index scores (SLEDAI) and adverse reactions. Of the 40 patients, 17 were randomized to the MMF group and 23 to the i.v. CyP group. Complete remission was seen in nine (52.94%) patients in the MMF group and 11 (47.82%) in the i.v. CyP group. Partial remission was seen in six (35.30%) in the MMF group and nine (39.13%) in the i.v. CyP group. At six months, the cumulative probability of response was not statistically significant between the two groups (P = 1.000). MMF is comparable to i.v. CyP in the management of LN in Indian patients having an equal safety profile. The dose of MMF required was lower than the conventional doses used in other studies suggesting genetic or environmental factors in the Indian population influencing the metabolism of MMF, which requires further evaluation. The cost of MMF is a limiting factor in its use. The use of i.v. CyP is favorable as the monthly doses ensure compliance and is also cost-effective.

Evans syndrome and its link with systemic lupus erythematosus.

Evans syndrome is a rare syndrome associated with the presence of autoimmune hemolytic anemia and simultaneous or sequential development of thrombocytopenia. It was first described by Evan and Duane in 1951. It is one of the rare presenting features of autoimmune disorders, especially systemic lupus erythematosus (SLE), and sometimes may even precede the onset of disease. Primary Evans syndrome with no cause is very rare and is seen in children. Here, we describe a case of secondary Evans syndrome with severe hemolytic anemia leading to acute kidney injury and recovery thereafter only to develop lupus nephritis a few months later. This is one of the rare presentations of SLE and there are only anecdotal case reports.

Adult-onset Still's disease with myocarditis and hemophagocytic lymphohistiocytosis: Rare manifestation with fatal outcome

Adult-onset Still′s disease (AOSD) is a rare inflammatory disorder of unknown etiology characterized by fever, evanescent pink salmon rash, arthritis, and multiorgan involvement. Here, we report an unusual manifestation of AOSD in a 40-year-old male who presented to our hospital with pyrexia of unknown origin and rash of 3 weeks duration. All his serological investigations and imaging studies were unremarkable. He was fulfilling clinical and laboratory criteria as per Yamaguchi for AOSD and was managed for the same. Our patient did not respond well to the treatment, had a downhill course, and succumbed to his illness. Autopsy confirmed myocarditis and florid bone marrow reactive hemophagocytosis as the cause of his death.

Acute kidney injury: A rare cause

We present a young lady who consumed hair dye, which contained paraphenylene diamine (PPD), as a means of deliberate self-harm. This resulted in severe angio-neurotic edema for which she had to be ventilated, and thereafter developed rhabdomyolysis leading to acute kidney injury (AKI). The unusual aspect was that the patient continued to have flaccid quadriparesis and inability to regain kidney function. Renal biopsy performed 10 weeks after the dye consumption revealed severe acute tubular necrosis with myoglobin pigment casts. This suggests that PPD has a long-term effect leading to ongoing myoglobinuria, causing flaccid paralysis to persist and preventing the recovery of AKI. In such instances, timely treatment to prevent AKI in the form alkalinization of urine should be initiated promptly. Secondly, because PPD is a nondialyzable toxin, and its long-term effect necessitates its speedy removal, hemoperfusion might be helpful and is worth considering.

Unconventional strategies in the battle of focal and segmental glomerulosclerosis

A 24-year-old male presented with classic features of the nephrotic syndrome. An initial renal biopsy revealed minimal change disease and thereafter, a second biopsy showed features of focal and segmental glomerulosclerosis. There was no response to conventional immunosuppression, and the patient had to be given rituximab; in spite of this, he went on to develop end-stage renal disease. He continued to have heavy proteinuria leading to severe hypoalbuminemia, thrombosis, infections, and malnutrition, placing the patient in a life-threatening situation. Bilateral renal ablation with embolization of both kidneys with coiling was done at one setting, which finally resolved the proteinuria in the patient. He then underwent a living-related renal transplant, developing recurrence immediately post-transplant. He was again given rituximab along with tacrolimus, mycophenolate mofetil, and prednisolone. There was no response to rituximab, and the patient underwent plasmapheresis, which leads to complete remission. An arteriovenous fistula was created post-transplant to facilitate regular plasmapheresis.

Primary thymic mediastinal seminoma with florid granulomatous reaction

Primary mediastinal seminomas are rare tumors. Morphologically, they can be associated with secondary changes in the form of thymic remnants, cystic change, epithelioid granulomas, abundant fibrosis, and syncytiotrophoblast like cells. Ours was an interesting case where a 17-year-old adolescent male presented with anterior mediastinal mass. Fine needle aspiration and trucut biopsy of the mass favored tuberculosis; however, he did not respond to antituberculosis treatment regime. He was subjected to video-assisted thoracoscopic surgery and the histopathological examination along with supportive immunohistochemistry of the mass revealed scattered seminoma cells which were being masked by extensive granulomatous reaction. The aim of this article is to report a case of primary mediastinal thymic seminoma in a young male associated with extensive granulomatous reaction masking the neoplastic population of cells leading to erroneous diagnosis on small biopsy.

Catastrophic aortic dissection in a patient of end stage renal disease

Introduction: Aortic dissection is a catastrophic condition characterized by a tear in the intimal layer of the aorta leading to splitting of the intima and media forming a false lumen within the aorta. It is a calamitous condition as the blood flow to most of the major branches of the aorta gets compromised. It has a varying presentation and it is described as a great masquerader. Acute aortic dissection is rare, and most cases are discovered during autopsies. the association of aortic dissection with renal failure is high as most patients have coexisting comorbid conditions especially hypertension which is a major risk

Primary malignant lymphoma of testis in a young immune competent adult: A case report

Introduction: Primary testicular lymphoma (PtL) is a disease of elderly and is very rarely seen in young adults. In the era of human immunodeficiency virus (HIV) pandemic, changing age spectrum has been reported but it is an uncommon malignancy in immune competent young adult. chances of misdiagnosis or delayed diagnosis are there due to same age group of presentation as that of germ cell tumors. case report: A 35-year-old immune competent male presented with left testicular swelling for five months duration, he was being treated as a case of epididymo-orchitis. On fine-needle aspiration cytology impression of seminoma was favored but it turned out to be non-Hodgkin’s lymphoma (NHL) of testis on histopathology following orchidectomy. there was no evidence of generalized lymphadenopathy or involvement of any other organ. On immunohistochemistry (IHc) studies diagnosis of diffuse large b cell lymphoma (DLbcL), non germinal cell type was made. conclusion: testicular lymphomas are rare and aggressive tumors and timely diagnosis