Congenital lipoid adrenal hyperplasia is a very rare and severe cause of adrenal insufficiency. It occurs due to a mutation of the steroidogenic acute regulatory protein (StAR), disrupting adrenal steroid biosynthesis. Here, we report a case of a three-week-old female infant with vomiting, failure to thrive, electrolyte imbalance, and generalized hyperpigmentation.
View Article and Find Full Text PDFA rare and challenging case of a preterm neonate with clinical and radiological signs of respiratory distress syndrome (RDS) since the first hour of life but was refractory to its standard treatment regimes like surfactant therapy and ventilation. Postmortem lung biopsy led us to the diagnosis of congenital pulmonary alveolar proteinosis (PAP). It occurs due to the aggregation of abnormal surfactant proteins and lipids in the alveoli, which hampers gas diffusion across the alveoli.
View Article and Find Full Text PDFCritically ill children admitted to the pediatric intensive care unit (PICU) face a substantial risk of morbidity and mortality, regardless of whether they are in developed or developing countries. To aid in treatment planning, various prognostic scoring systems have been developed to predict the likelihood of morbidity and death in these young patients. While the sequential organ failure assessment (SOFA) score has been validated as an independent risk predictor for adult mortality in cases of confirmed or suspected sepsis, it is not suitable for use in children due to its lack of age normalization.
View Article and Find Full Text PDFIntroduction: "The art of medicine is intricately tied to the art of communication." In traditional medical curriculum, communication is not taught formally and this leads to a gap in reliability and consistency of the teaching. Few studies have shown that much litigation against doctors is due to lack of communication and not because of lack of clinical expertise.
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