Visceral Toxocariasis Presenting as Systemic-Onset Juvenile Idiopathic Arthritis.

An 8-year-old boy presented with intermittent fever, abdominal pain and joint pain for 1 month. On examination, he had pallor, generalized lymphadenopathy, hepatomegaly and arthritis. Investigations revealed anemia, leucocytosis, hypereosinophilia and hypergammaglobulinemia, with an elevation of inflammatory markers. Initially, suspected as systemic-onset juvenile idiopathic arthritis, and on further probing, the child had geophagy and contact with dogs in the household. Ultrasonography of the abdomen showed multiple cystic lesions, and serology for Toxocara canis was positive; hence the child was diagnosed with visceral toxocariasis and managed with albendazole therapy.

Leptospirosis: a diagnostic conundrum.

Leptospirosis is a serious public health concern worldwide. It is highly endemic in the Andaman Islands and its prevalence is increasing in other Indian states. Clinical features are non-specific and diagnosis relies on laboratory confirmation. The gold standard is microscopic agglutination testing, but this is not widely available. Real-time polymerase chain reaction testing of LipL32 antigen provides the earliest detection of pathogenic Leptospira in the body. We found it to be 100% specific, but it should be used in the first 10 days of illness for reliable results.

Chronic Pruritus in an 18-Month-Old Male Infant Due to Anicteric Cholestasis.

An 18-month-old male infant was referred to us with pruritus from 6 months of age. He was being managed as atopic eczema with emollients and antihistamines without any response to treatment. On examination, he was found to have extensive scratch marks, mild hepatomegaly and no icterus. Blood investigations were suggestive of anicteric cholestatic liver disease. Liver biopsy was suggestive of progressive familial intrahepatic cholestasis type 3. He showed symptomatic improvement after starting ursodeoxycholic acid and fat-soluble vitamins and is under follow up.

Hemophagocytic Lymphohistiocytosis in A Child With Very Severe Aplastic Anemia: Double Jeopardy Resulting in Fatality.

A 7-year-old male child with very severe aplastic anemia developed refractory disease, which was attributed to febrile hemolytic transfusion reactions and was treated with immunosuppressants, which lead to a transient improvement. However, the child worsened subsequently and succumbed to an underlying hemophagocytic lymphohistiocytosis that was recognized late due to an overlap of clinical and biochemical parameters in both the conditions. Hemophagocytic lymphohistiocytosis should be an early suspicion in children with refractory very severe aplastic anemia and the detection of underlying gene mutations can predict disease severity.

Atypical Presentation of Acute Lymphoblastic Leukemia in a 7 Year Old Child.

Seven year child, who had intussusception 4 month before, readmitted for fever and walking difficulty. On examination, child had mild pallor and kyphosis of the spine but no organomegaly, lymphadenopathy or bone pain . Further evaluation revealed hypercalcemia, diffuse osteoporosis with vertebral fracture. Peripheral smear showed no blasts or pancytopenia. Bone marrow aspiration turned out to be a pre B cell ALL. This child had many atypical presentations like intussusception, osteoporosis, vertebral collapse and hypercalcemia without any classical features of ALL.

Osteomyelitis and pyomyositis due to Pseudomonas aeruginosa in a child with sickle ß°-thalassemia.

Sickle cell osteomyelitis is usually due to Salmonella or Staphylococcal etiology. Pseudomonas as a cause of sickle cell osteomyelitis is rare. Similarly, pyomyositis is a rare complication in children with sickle cell disease and few cases have been reported, predominantly due to Staphylococcus. We describe an 8-year-old boy who presented with high-grade fever and tender, swollen left thigh. There was a history of intramuscular injections in the left thigh. He also had severe anemia, hepatosplenomegaly, and laboratory evidence of hemolysis. Hemoglobin electrophoresis showed sickle ß-thalassemia. Magnetic resonance imaging of the left thigh showed evidence of osteomyelitis with pyomyositis. Surgical drainage of the pus was done and Pseudomonas aeruginosa was isolated. He was treated with intravenous antibiotics for 8 weeks. The child had a protracted course of illness with development of pathologic fracture of the femur. Clinicians need to be aware of Pseudomonas infection as a complication in children with sickle cell disease, as this affects therapeutic decisions, including the choice of antibiotics.

Arrhythmogenic dilated cardiomyopathy due to a novel mutation in the desmoplakin gene.

The authors describe an 11-year-old girl who presented with congestive heart failure due to arrhythmogenic dilated cardiomyopathy. She had curly, woolly hair since birth and palmoplantar keratoderma. Molecular genetic analysis of the desmoplakin gene revealed that she was homozygous for the c.3901C>T (p.Gln1301X) change in exon 23 of the desmoplakin (DSP) gene, confirming the diagnosis of Carvajal disease. As per the Arrhythmogenic Right Ventricular Dysplasia/ Cardiomyopathy Genetic Variants Database, this is a novel mutation. She was managed with diuretics, enalapril, carvedilol and amiodarone, is presently stable, and on regular follow-up. Carvajal disease is a rare cardiocutaneous disorder and few cases have been reported in the literature. The authors review the published cases of the Naxos-Carvajal phenotype from India. Pediatricians need to be aware of this clinical entity whenever arrhythmogenic dilated cardiomyopathy is associated with woolly hair and/or palmoplantar keratoderma.

Congenital leukaemia in Down Syndrome--a case report.

A 17 days old male infant, who had features of Down Syndrome, presented with fever, refusal to feed and seizures. He had papular, crusted skin lesions, moderate hepatosplenomegaly and a rapid downhill course. Peripheral blood and bone marrow aspirate showed features of acute leukaemia. Congenital Leukaemia is a rare malignancy associated with a very poor prognosis. Paradoxically, many cases of Congenital Leukaemia, especially in infants with Down Syndrome, show spontaneous remission.