Unlabelled: Hypoplastic left heart syndrome is a rare critical congenital heart defect constituting a prevalence of 1/3,500 to 1/12,500 live births in which there is obstructions to the blood flow within the left heart. Here we present a case of a full-term 38 weeks male baby with a birth weight of 3.5 kg, and no obvious physical deformity referred to our centre at 22 hours of life for respiratory distress and cyanosis.
View Article and Find Full Text PDFCarvajal syndrome is a rare variant of Naxos disease, a recessive mutation of the desmoplakin gene characterized by presence of woolly hair, palmoplantar keratoderma and dilated cardiomyopathy, mainly left ventricular involvement. The main clinical complication is progressive heart disease which may lead to heart failure and sudden cardiac death in childhood and adolescence. Cardiomyopathy is diagnosed by Task Force Criteria.
View Article and Find Full Text PDFJNMA J Nepal Med Assoc
January 2021
The systemic lupus erythematosus (SLE) is a connective tissue disorder with variable presentations in children. The usual presentation includes arthritis, malar rash, nephritis, hemolytic anemia, and fever. Isolated hematologic abnormality as the only presentation of SLE is rare.
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