Swapnil Rane

Primary IgA nephropathy in north India: is it different?

Background Immunoglobulin A (IgA) nephropathy is the most common glomerulonephritis worldwide, but has a variable geographic distribution. The bulk of the disease burden is borne by Asian countries. However, its exact prevalence or clinicopathologic spectrum in India is not well documented. Methods This cross sectional study analysed the renal biopsy findings and clinical features at presentation in 66 patients of primary IgA nephropathy diagnosed over a period of 2 years (2007–2008). The results were compared with studies from other centres in the country and elsewhere. Results IgA nephropathy comprised 8.1% of all native kidney biopsies. The mean age of the patients was 29.9 years with a male:female ratio of 4.4:1. Most patients presented with renal failure and a significant percentage (23%) also had nephrotic range proteinuria. Renal biopsies were classified by the Haas classification and were further scored by the MEST scoring system of the Oxford classification. By Haas classification, 41 cases (62%) showed advanced sclerotic lesions of class V. Active crescents (cellular or fibrocellular) were seen in 42% of cases, and 26% of cases showed endocapillary proliferation. Serum creatinine values were highest in the presence of proliferative lesions. MEST scoring of the Oxford classification was not applicable in approximately 18% of cases because of the presence of advanced sclerotic lesions. On immunofluorescence, the majority of the cases showed both mesangial and membranous positivity for IgA antisera. Electron microscopy revealed para-mesangial location of immune complex deposition in the majority of the cases. It also showed glomerular basement membrane abnormalities in two cases. Conclusion Comparison of clinical and pathological features revealed that this disease presents as an advanced disease in much younger individuals in this study compared to other studies. Elucidation of the underlying factors may have immense therapeutic implications.

Carcinoma lung presenting with choroidal metastasis as initial presentation: a rarity.

Diminished vision due to choroidal metastasis as the primary symptom of lung cancer is very uncommon. Here, we report such a presentation in a 54-year-old male patient of small cell lung cancer. The outcome is usually dismal with this kind of presentation. The patient received systemic chemotherapy as well as intravitreal bevacizumab but with no improvement in vision. The patient had been given external beam radiotherapy and showed subjective improvement in his ocular symptoms.

Collagenofibrotic glomerulopathy—a review

Collagenofibrotic glomerulopathy (CG) is a rare cause of idiopathic nephrotic syndrome characterized by massive accumulation of atypical Type III collagen fibrils within the mesangial matrix and subendothelial space of the glomeruli. A definite diagnosis can be established when typical histological findings are supported by electron microscopy. This disease exhibits indolent progression and as yet has no specific treatment. The present article reviews the clinicopathological features, epidemiology and proposed mechanisms of pathogenesis of CG. A search of the English language literature identified 38 cases of CG, of which 22 are reported from Asian countries. An additional three cases are being reported from this Institute in India and are illustrated herein. These reports contribute to a better understanding of this disease, which although not as prevalent, should be considered as a differential diagnosis in cases of mesangiocapillary form of glomerular injury.

Light Chain Proximal Tubulopathy Without Crystals in a Case of Burkitt Lymphoma Presenting With Acute Kidney Injury

Acute kidney injury is a common manifestation of malignancies, either directly by the tumor or indirectly from anticancer therapy. The pathologic correlates of acute kidney injury in malignancies are many and can be diagnosed conclusively using kidney biopsy. We report a rare case of a patient with light chain proximal tubulopathy without crystals who presented with acute kidney injury. Kidney biopsy showed proximal tubulopathy without crystals with λ light chain restriction. Detailed investigations lead to a diagnosis of Burkitt lymphoma with surface λ light chain restriction.

Heavy-chain deposition disease: a morphological, immunofluorescence and ultrastructural assessment

Heavy-chain deposition disease (HCDD) is the least common of the monoclonal immunoglobulin deposition diseases with only 24 reported cases in English literature, including the present case. The rarity of this disease merits its documentation. We present a case of HCDD from our archival material, who presented with rapidly progressive renal failure and nephrotic syndrome and was found to have nodular glomerulosclerosis on renal biopsy which on immunofluorescence and electron microscopy confirmed HCDD of immunoglobulin G1 type without any light-chain deposition. We also present an in-depth literature review on HCDD.

Tuberculous brain abscesses in immunocompetent patients: A decade long experience with nine patients.

OBJECTIVE To describe the clinical presentation, radiological findings, management details, and outcome in nine cases of tuberculous brain abscess (TBA). MATERIALS AND METHODS Nine patients (5 females, 4 males) harboring a TBA, as defined by the Whiteners criteria, were managed over a span of one and a half decade by the authors. All, except one patient, underwent contrast-enhanced magnetic resonance imaging scans, followed by surgical excision of the abscesses due to the failure of complete resolution of the lesion after its drainage using a burr-hole. RESULTS The infra-tentorial location (n = 4) in TBAs was as common as the supra-tentorial location (n = 4). All large TBAs (more than 3 cm in diameter) failed to resolve after tapping of the purulent material and required surgical excision for a favorable long-term outcome. Two patients expired, while seven patients survived with Karnofsky Performance scale of 90 for 3, 80 for 3, and 70 for 1 patient. The follow-up ranged from 2 to 12 years (mean = 5.7 years). CONCLUSION TBAs should be considered in the list of differential diagnoses for pyogenic abscesses, especially in developing countries, as it is difficult to differentiate between them on the basis of clinical or radiological findings. Hence, all pus samples should be sent for Ziehl-Neelsen staining and culture for Mycobacterium tuberculosis. Surgically excised and pathologically evaluated specimens remain the gold-standard for diagnosing TBAs. Larger abscesses warrant surgical excision, while concomitantly associated smaller lesions tend to resolve with prolonged antituberculous therapy.

Intracranial actinomycosis: Varied clinical and radiologic presentations in two cases

Two patients with primary actinomycotic brain infection are presented here. The first case had 2 predisposing factors, cardiac septal defect and chronic mastoiditis, whereas the second patient was a chronic smoker, belonging to a desert region. Both the patients were successfully managed with surgical debridement and prolonged administration of antibiotics.

Pre‐pubertal isolated plexiform neurofibroma of labium majus without clitoral involvement

Sir, Neurofibromas are tumors of neural crest origin with protean manifestations which can affect virtually every organ and system. Isolated involvement of the female genital organs by this disease is rare and clitoral hypertrophy is the most common presentation. Genital neurofibromas usually enlarge in size and become symptomatic during puberty and pregnancy; however, we report an isolated plexiform neurofibroma in one labium majus without clitoral involvement and with documented rapid growth in a pre-pubertal girl. A 9-year-old girl presented with a swelling in the vulval region present since birth and with progressive painless enlargement for the last two years. The mass remained completely asymptomatic till the age of six years when it started to increase in size, causing discomfort during walking. The girl was 112 cm tall, breasts were Tanner’s stage I and pubic and axillary hair absent. Multiple (more than six) café-aulait spots measuring >15 mm were present over the abdomen, back and buttocks (Figure 1). A 7.2 × 5.4-cm sized irregular growth was noted in the left labium majus leading to disfigurement. The clitoris was unremarkable. The growth was firm, not tender, irreducible, with ill-defined margins and without vaginal extension. Ultrasound showed a predominantly hypo-echoic lesion with septae without any pelvic organ abnormality. Fine needle aspiration cytology suggested a benign spindle cell tumor. The mass was excised and histopathology revealed plexiform neurofibromatosis (Figure 1). Neurofibromatosis-1 (NF1) is an autosomal dominant neurocutaneous syndrome with a reported incidence of 1 in 3000 live births. It is a multisystem disorder which may affect virtually every structure of the body; however, involvement of the external genitalia

Tumefactive presentation of a supratentorial cavernous hemangioma: A report of two cases.

This study reports two children, including a 2-month-old infant, harboring giant cavernous hemangiomas (GCH) in the supratentorial compartment, causing raised intracranial pressure and focal deficits. Relevant demographic details, clinical presentation, and radiological findings of GCH are discussed in light of tumefactive presentation. Differential diagnoses of such radiological findings are elaborated.

En plaque foramen magnum meningiomas: rare presentations.

Only 1.8–3.2% of all meningiomas are located at foramen magnum (FM). As these tumours are indolent, there occurs a long interval between onset of symptoms and diagnosis. This diagnostic delay may get accentuated, if unusual clinical features or radiological features are seen. The authors present two cases of FM meningiomas, with rare radiological features, one with intense bony hyperostosis and another with circumferentially, constricting en-plaque meningioma.