Jyoti Kotwal

Unusual case of pulmonary renal syndrome with autopsy findings

Scleroderma renal crises (SRC) is a serious complication of systemic sclerosis whose prognosis remains serious despite management with angiotensin-converting enzyme inhibitors, antihypertensives and dialysis. Pulmonary renal syndrome (PRS), characterised by diffuse alveolar hemorrhage (DAH) and SRC, is rare and carries a grave prognosis. This case report discusses the clinicopathological features of a 43-year-old male presenting with severe hypertension and rapidly progressive renal failure who subsequently developed DAH and died. The clinical course, exhaustive investigative work-up and autopsy findings led to a diagnosis of diffuse systemic sclerosis with PRS subcategorized into PRS with thrombotic microangiopathy. The index case came without a prior diagnosis of systemic sclerosis, thereby posing a serious diagnostic challenge and management issues.

Role of multiplex reverse-transcriptase PCR for diagnosis of Acute myelosis in an infant with Down's syndrome

Children with Down syndrome (DS) are at a higher risk of developing Acute leukemias compared with the general pediatric population.1,2 Neonates with DS also may develop a transient myeloproliferative disorder (TMD), an abnormal proliferation of myeloid blasts in the blood that resolves without therapeutic intervention.3 TMD and acute myeloid leukemia (AML) in DS show strikingly similar morphologic features.1 The main difference in the clinical presentation of these disorders is the age of onset, with TMD occurring during the first few days of life and AML usually manifesting after 1 year.2 However, there may be diagnostic difficulty in some cases as there have been reports of TMD at later ages (second or third month of life), as well as cases of “congenital leukemia”.4 Hematologic and cytogenetic differences between these disorders also have been described. TMD tends to manifest with normal hematocrit and platelet counts, whereas AML generally exhibits cytopenias.1 Blasts in TMD usually have only the constitutional Trisomy 21, whereas blasts in AML may show additional complex cytogenetic abnormalities.5 One of the few modalities available to establish the diagnosis would be by identifying one of the 28 possible mutations associated with AL. We present a case report on the use of Multiplex RT-PCR in the diagnosis of Acute myelosis in Downs syndrome.6

Visceral leishmaniasis co-infection in people living with HIV/AIDS

Visceral leishmaniasis (VL) is a worldwide disseminated infection transmitted by the bite of infected female sand flies. It is caused by a protozoan Leishmania donovani (LD). About 350 million people are at risk and 12 million people are affected worldwide. Leishmania and human immunodeficiency virus (HIV) co-infection occurs across the world, the situation being particularly alarming in southern Europe, where 50–75% of adult cases of VL are HIV positive.1 It is estimated that 500,000 new cases of VL occur annually. About 90% of these are in five countries, namely Bangladesh, Brazil, India, Nepal, and the Sudan.2 India has the largest number of VL cases, accounting for 40–50% of world disease burden3 and the second-largest HIV-infected population, accounting for approximately 10% of the global disease burden.4 The possible overlap in the distribution of VL and HIV in countries where both infections are highly endemic, such as India, may have grave consequences. VL has joined the list of AIDS-related opportunistic infections in endemic areas. Recently, HIV-VL co-infection has increased in prevalence, though tuberculosis is the commonest opportunistic infection in HIV.5 The triad of HIV, tuberculosis, and VL has been reported.6 A chronic, relapsing course is seen in co-infected patients, VL associated with HIV. These are the first two of the VL cases in people living with HIV/AIDS (PLHA) to be reported from the Armed Forces.7