female infant with severe combined immunodeficiency

We report a case of a female infant with autosomal recessive severe combined immunodeficiency. She presented early in life with recurrent severe chest infection, opportunistic infections and failure to thrive. This is a serious life-threatening disorder. The child will die with severe infection within two years of life, if left untreated

Osteopetrosis associated with hyperkalaemia: a case report

Osteopetrosis is a rare disease of childhood. We report a 4-month-old infant with clinical and radiological features of osteopetrosis who had dehydration and hyperkalaemia on admission and, during investigations, was found to have pseudohypoaldosteronism