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Background. While research on P. vivax is scarce because it is considered benign, it has become evident with implementation of molecular diagnosis that it can also cause multiple organ dysfunction and severe life-threatening disease. Objective. To study clinical presentations and complications of P. vivax malaria and mortality correlation to severity parameters as defined by WHO criteria for severe malaria. Materials and methods. This study was conducted in a tertiary care centre in Mumbai. Confirmed P. vivax cases were enrolled and studied for their clinical profile, and WHO severity parameters were tested for their frequency and association to mortality. Result. The most common presentation was fever followed by pallor. 26% of the cases satisfied one or more criteria of WHO severity parameters. 2 cases died; both had pulmonary edema and bleeding. The major predictor of mortality among these predefined severity criteria was pulmonary edema/ARDS. Patients with severe anemia, circulatory collapse, and repeated generalized convulsion had 100% survival rate. Leukopenia was present in 10% of the cases. Both cases with mortality had leukopenia. Conclusion. P. vivax monoinfection tends to have severe complications in children. There is a need to review severity criteria for P. vivax malaria.

We report a 2.5-year-old girl who presented with hoarseness of voice since 3 months of age and failure to thrive. Chest X-ray showed cardiomegaly with a deviation of the trachea and mediastinum to the right side. Two-dimensional echocardiography showed decreased flow across the right pulmonary artery, a small atrial septal defect (ASD) with a right-to-left shunt, and a dilated right atrium and right ventricle with severe tricuspid regurgitation suggestive of severe pulmonary hypertension. A silent large patent ductus arteriosus was also seen. Multiple detector computerized tomography aortogram confirmed the findings of absent right pulmonary artery and hypoplastic right lung with small cystic lesions suggestive of congenital cystic adenomatoid malformation in the right lower lobe. Hoarseness of voice was due to the left vocal cord palsy probably secondary to severe pulmonary hypertension (Ortner′s syndrome).

Case Characteristics. An 11-month-old girl presented with fever and breathlessness for 5 days. Patient had respiratory distress with bilateral coarse crepitations. Chest radiograph revealed diffuse infiltrations in the right lung with thick walled cavities in mid and lower zone. Computed tomography showed multiple cystic spaces and emboli. Blood culture grew Acinetobacter species. Intervention. Patient was treated with Meropenem and Vancomycin. Outcome. Complete clinical and radiological recovery was seen in child. Message. Blood cultures and CT of the chest are invaluable in the evaluation of a patient with suspected septic pulmonary embolism. With early diagnosis and appropriate antimicrobial therapy, complete recovery can be expected in patients with septic pulmonary embolism.

Rickets in children usually present with skeletal manifestations. However, they can also rarely present with extraskeletal manifestations, one of them being respiratory insufficiency. We present an unusual case of a girl in early childhood with respiratory insufficiency, which turned out to be due to the underlying vitamin D-dependent rickets (VDDR). The girl was born to third-degree consanguineous parentage and had progressive skeletal deformities, acquired loss of motor milestones, recurrent lower respiratory tract infections and florid signs of rickets. She was hospitalised for respiratory insufficiency, which required prolonged oxygen supplementation. X-rays showed multiple fractures and florid rickets. Laboratory parameters revealed low serum calcium and phosphorus, high alkaline phosphatase, parathyroid hormone and 25-OH vitamin D levels with a normal 1,25-OH2D level. Genetic testing confirmed autosomal recessive CYP27B1 mutation proving VDDR1A. She was started on calcitriol and calcium which led to her gradual improvement.

A female toddler presented with short stature and hypermobility of limbs. She had sustained five long bone fractures following minor trauma since early infancy. Skeletal survey was consistent with osteogenesis imperfecta. This was genetically proven on clinical exome analysis, which revealed a pathogenic homozygous autosomal recessive P3H1 nonsense mutation. She has been started on cyclical pamidronate infusion therapy. We have demonstrated an extremely rare case of non-lethal osteogenesis imperfecta VIII due to P3H1 mutation.

The occurrence of acute myelogenous leukemia (AML) in HIV-infected patients is extremely rare with only adult patients reported so far. Our patient was a 7-year-old male who presented with fever and cough since 1 month with six episodes of intermittent hemoptysis. The child also had recurrent parotid swellings, melena, and purulent otitis media. Investigations revealed anemia (hemoglobin of 8.9 g/dl), thrombocytopenia (platelet count of 21,000 cells per microliter), and positive HIV antibody (perinatal transmission). The patient's bone marrow aspiration and biopsy suggested AML, and the leukemia panel 1 study showed CD13, CD33, CD34, and HLA DR-positive AML with CD7 expression. The child was given supportive treatment but succumbed to the disease. AML can occur in pediatric patients with HIV infection. A high index of suspicion of hematological malignancies should be kept in mind for patients presenting with cytopenias. This is the first HIV-infected pediatric patient (<12 years) with AML reported in the medical literature.

Hypoglycaemia is one of the most common causes of convulsions in neonatal period. Repeated hypoglycaemic convulsions have to be addressed with utmost urgency to prevent its morbid sequelae. Repeated ketotic hypoglycaemia in the infantile period needs detailed endocrine evaluation. Our patient is a boy in the third year of his life, had presented in infancy with hypoglycaemic convulsions and hyperpigmentation of skin and mucous membrane. Investigations revealed ketotic hypoglycaemia, hypocortisolaemia with high adrenocorticotropic hormone (ACTH) and normal aldosterone, 17-hydroxyprogesterone (17-OHP) and testosterone levels. This suggested isolated glucocorticoid deficiency without mineralocorticoid deficiency. He responded well to hydrocortisone therapy with resolution of symptoms and normalisation of lab parameters. Genetic study confirmed the diagnosis of familial glucocorticoid deficiency (FGD) with homozygous mutation in NNT (nicotinamide nucleotide transhydrogenase) gene with a novel p.Thr578lle variant. This is the first case of FGD with NNT mutation to be reported from the Indian subcontinent.

Magnesium is essential for the functioning and release of parathyroid hormone. Therefore, its deficiency can present as functional hypoparathyroidism. This case report describes a rare inherited disorder called congenital hypomagnesaemia with secondary hypocalcaemia due to TRPM6 gene mutation. This disease clinically and biochemically mimics hypoparathyroidism. However, unlike hypoparathyroidism, it can be treated only by long-term oral magnesium supplements. The patient presented to us with recurrent hypocalcaemic convulsions. The laboratory picture in each admission was similar to that of hypoparathyroidism. However, the hypocalcaemia persisted, and it was noticed to be associated with persistent hypomagnesaemia. A defect in the tubular magnesium reabsorption was postulated and a genetic analysis of the patient was done, which revealed a TRPM6 mutation causing hypomagnesaemia by excessive renal excretion of magnesium. The child responded well to oral magnesium supplements and is currently developmentally appropriate for her age and thriving well.

Hypocalcaemia is a frequently encountered electrolyte abnormality in neonates and it is mostly transient. However, persistent hypocalcaemia can point towards an endocrine abnormality like hypoparathyroidism, which is usually due to genetic disorders like DiGeorge and Kearns Sayre syndrome or due to mutations of genes like GCM2, CaSR and PTH. Our patient was a female child, who presented with hypocalcaemic convulsions in the neonatal period. On laboratory assessment, serum phosphate levels were noted to be high along with inappropriately low parathyroid hormone (PTH) levels. The child was diagnosed to have hypoparathyroidism and was started on oral calcium and 1,25-dihydroxycholecalciferol supplements to which she responded well. However, the child was lost to follow-up and was readmitted with hypocalcaemic convulsions in infancy. Clinical exome analysis done was diagnostic of homozygous PTH gene mutation. This case demonstrates a rare form of congenital isolated hypoparathyroidism with no other syndromic associations.

Moyamoya disease has been reported in both children and adults with HIV-1. Most cases reported in children were found to have unsuppressed viral loads and low CD4 counts. Although the aetiology of the disease is largely unknown, a few studies have postulated cytokine imbalance and immune activation as possible causes. Intimal staining of the involved cerebral arteries have revealed transmembrane glycoprotein of HIV-gp 41. We present the case of an 18-year-old boy with congenitally acquired HIV-1 who presented with right hemiparesis at the age of 12 years and was found to have Moyamoya disease on neuroimaging. His CD4 count has always been low (<100 cells/cumm) in spite of being virally suppressed. He was started on anti-retroviral therapy at 5 and half years of age and he was continued on the same. He was treated conservatively and he continues to have residual right hemiparesis.