Clinical impact & pathogenic mechanisms of human parvovirus B19: A multiorgan disease inflictor incognito

Human parvovirus B19 (B19V) causes myriads of clinical diseases; however, owing to lack of awareness and undetermined clinical impact, it has failed to become a virus pathogen of global concern. Cryptically, B19V causes significant morbidity and mortality. Half of the world population and 60 per cent of Indians are known to be serologically naive and are at risk of acquiring B19V infections. Cumulatively, our data showed 21.3 per cent B19V-infected patients with juvenile chronic arthropathy, recurrent abortions, multi-transfused thalassaemia and leukaemia. In addition, B19V-infected cases that ended fatally included patients with pure red cell aplasia, fulminant hepatitis and haemophagocytic syndrome. Novel clinical associations of B19V observed were amegakaryocytic thrombocytopaenia, myositis and non-occlusive ischaemic gangrene of bowel. B19V possesses multiple receptors which are distributed widely in human tissues. Vascular endothelial cell infection by B19V causes endothelialitis and vasculitic injuries besides antibody-dependent enhancement which empowered B19V to cause multiorgan diseases. Owing to lack of suitable animal model for B19V, true causal role remains to be determined, but numerous reports on B19V infections substantiate a causal role in multiorgan diseases. Hence, B19V infections need to be recognized, investigated and treated besides making efforts on vaccine developments.

Fatal missed case of hemophagocytic lymphohistiocytosis co-infected with parvovirus B19 and Epstein-Barr virus in an infant: Test hyperferritinaemia early.

Hemophagocytic lymphohistiocytosis (HLH) triggered by Parvovirus B19 and Epstein-Barr virus co‑infection is rare and unknown in infants. A 2‑month‑old male infant with fever, rash, bicytopenia and hepato‑splenomegaly died owing to diagnostic dilemmas. Hence simply testing for hyperferritinaemia and hypertriglyceridemia/hypofibrinogenemia could diagnose HLH early while robust treatment be life‑saving.

NPHS2 Mutations in Indian Children with Sporadic Early Steroid Resistant Nephrotic Syndrome.

We examined the frequency and spectrum of podocin NPHS2 mutations in Indian children with sporadic steroid resistant nephrotic syndrome (SRNS). Of 25 children screened, only one (4%) had a pathogenic mutation resulting in a stop codon. The allele and genotype frequencies of the four known single nucleotide polymorphisms detected in the cohort were similar to that of controls. This finding emphasizes the need to screen for mutations in other genes involved in the pathogenesis of SRNS.

Cryoglobulinemia presenting as acute polyneuropathy.

A 48 years male presented with acute axonal neuropathy and palpable purpura over bilateral lower limb, RA factor, and cryoglobulins were present in the serum. Nerve biopsy revealed myelinated fibre loss, axonal degeneration and necrotizing vasculitis of epineural vessels.

Management of steroid sensitive nephrotic syndrome: revised guidelines.

JUSTIFICATION: In 2001, the Indian Pediatric Nephrology Group formulated guidelines for management of patients with steroid sensitive nephrotic syndrome. In view of emerging scientific evidence, it was felt necessary to review the existing recommendations. PROCESS: Following a preliminary meeting in March 2007, a draft statement was prepared and circulated among pediatric nephrologists in the country to arrive at a consensus on the evaluation and management of these patients. OBJECTIVES: To revise and formulate recommendations for management of steroid sensitive nephrotic syndrome. RECOMMENDATIONS: The need for adequate cortico-steroid therapy at the initial episode is emphasized. Guidelines regarding the initial evaluation, indications for renal biopsy and referral to a pediatric nephrologist are updated. It is proposed that patients with frequently relapsing nephrotic syndrome should, at the first instance, be treated with long-term, alternate-day prednisolone. The indications for use of alternative immunosuppressive agents, including levamisole, cyclophosphamide, mycophenolate mofetil and cyclosporin are outlined. The principles of dietary therapy, management of edema, and prevention and management of complications related to nephrotic syndrome are described. These guidelines, formulated on basis of current best practice, are aimed to familiarize physicians regarding management of children with steroid sensitive nephrotic syndrome.

Short course of oral prednisolone on disappearance of lesion and seizure recurrence in patients of solitary cysticercal granuloma with single small enhancing CT lesion: an open label randomized prospective study.

OBJECTIVE: To evaluate the effect of a short course of oral prednisolone on disappearance of lesion and seizure recurrence in newly diagnosed patients with single small enhancing CT lesion. METHODS: In this open-label, randomized, prospective follow-up study, 100 patients of new-onset seizures and a cysticercus granuloma presenting as single enhancing computed tomography detected lesion were randomly divided in two groups to receive either antiepileptic monotherapy (Group A) or antiepileptic drugs with oral prednisolone in a dose of 1 mg/kg body weight for 7 days and tapering off dose in next 3 days (Group B). Repeat CT scan was performed on 8th-12th week to know radiological state of lesion. The patients were followed up for 1 year for seizure recurrence. RESULTS: The majority of patients were in second decade. Male: female ratio 1.56:1. Mean number of seizure episodes was 4.33 +/- 3.50 in group A and 4.23 +/- 3.97 in group B. Partial seizure were the most common presentation (85%). 72% patients presented with single seizure or seizure in cluster. Solitary ring lesion was the commonest (69%) CT finding, most of them were located in parietal lobe (52%). Follow up CT scan showed complete resolution of lesion in 60.86% of total [group A (n = 47), 32 patients, 68.08%; group B (n = 45), 24 patients, 53.33%]. Significant difference in group A and B regarding lesion resolution was observed (chi2 = 5.926, d.f. = 1) p < 0.05. Clinical follow up showed seizure recurrence in group A - 5 patients (10.63%), in group B - 12 patients (26.66%). Statistically significant higher number of seizure recurrences were noted in group B as compared to group A (chi2 = 3.93, d.f. = 1) p < 0.05. CONCLUSIONS: Short-term oral prednisolone along with antiepileptic drugs helps in rapid resolution of single small enhancing lesions in patient with newly diagnosed seizure disorder with good clinical outcome.

Congenital Nephrotic Syndrome with adrenal calcification and cardiac malformation.

Congenital Nephrotic Syndrome (CNS) with adrenal calcification and CNS with congenital heart disease (CHD) have rarely been reported. However, CNS with both these rare associations has never been previously reported. Here we report a case of CNS with both rare associations, perhaps the first report from India to the best of our knowledge.

Polyneuropathy with osteosclerotic myeloma--POEMS syndrome.

A 55-years-old male, who presented with insidious onset gradually progressive sensorimotor polyneuropathy, POEMS-syndrome was diagnosed based on polyneuropathy, splenomegaly, hypothyroidism, the presence of IgG-monoclonal serum protein with osteosclerotic lesions and hyperpigmention of skin. Biopsy of the osteosclerotic lesion from the right superior pubic rami was consistent with plasmocytoma. Electrophysiological studies revealed demyelinating sensorimotor neuropathy and biopsy from sural nerve showed demyelinating neuropathy with secondary axonopathy. The patient showed improvement with radiotherapy. This is a rare systemic disease from the clinical spectrum of plasma cell dyscrasias with polyneuropathy. The importance of POEMS syndrome in the differential diagnosis of polyneuropathies has been emphasized.

Patient with limb girdle dystrophy presenting with dopa-responsive dystonia--a case report.

Dopa-responsive dystonias are rare. We report a 14-year-old male who was diagnosed as a case of limb girdle dystrophy and had features suggestive of dopa-responsive dystonia.

Acute renal failure due to acute tubulointerstitial nephritis.

Acute interstitial nephritis (AIN) should be ruled out in children with unexplained acute renal failure. We present a 4 1/2 year old girl who presented with oliguric acute renal failure preceded by a febrile illness. Renal histopathology revealed features of drug induced AIN. She recovered with dialysis, other supportive treatment and a course of steroids.