Browsing by Author "Ghimire, Anjila"
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Publication Carvajal Syndrome- A Variant of Naxos Disease: A Case Report(Nepal Medical Association, 2022) Mandal, Krishna Deo; Shrestha, Pun Narayan; Ghimire, Anjila; Joshi, Prakash; Agrawal, Sumit; Shrestha, PraptiAbstract: Carvajal 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. The goal of treatment is to prevent sudden cardiac death by lifestyle modification and regular clinical monitoring with pharmacotherapy. We report a nine years female who had skin and hair abnormality and was admitted with features of heart failure. She was clinically diagnosed as Carvajal syndrome, an under-recognized cardio cutaneous manifestation in children. Clinicians should be aware, if any child present with keratoderma of palm and soles with woolly hair since birth should evaluate for cardiomyopathy. Genetic tests should be done whenever available, for confirming the diagnosis and counseling.Publication Hypoplastic Left Heart Syndrome: A Case Report(Nepal Medical Association, 2023) Manandhar, Sunil Raja; Ghimire, Anjila; Rai, Dipendra; Shrestha, Sabina; Adhikari, PrithaAbstract 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. At 23 hours of life, he was diagnosed with hypoplastic left heart syndrome and kept on Prostaglandin E1 infusion till the 12th day of life. The baby had a large ventricular septal defect and atrial septal defect with a severely hypoplastic left ventricle, hypoplastic aortic root, ascending aorta and post-ductal coarctation of the aorta. The diagnosis was reconfirmed by computed tomography cardiac angiography on the 10th day of life with the same cardiac findings suggestive of hypoplastic left heart syndrome.Publication Immune Thrombocytopenic Purpura as Initial Presentation of Paediatric SLE: A Case Report(Nepal Medical Association, 2021) Ghimire, AnjilaAbstract: 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. Here is a case report of a female child presented to us with superficial and mucosal bleeding with isolated low platelet count and anemia in proportion to blood loss. When platelet count did not go up despite appropriate treatment in lines of ITP, further investigations were done, diagnosis of SLE was established, and management was done accordingly.