Pulmonary hypertension: A rare Presentation of thiamine deficiency in infancy

Abstract

Persistent pulmonary hypertension (PPHN) is seen in approximately 10% of infants with respiratory failure with significant mortality and morbidity. Pulmonary hypertension in infants can be idiopathic, associated with vascular or parenchymal diseases. Thiamine deficiency is one of the reversible causes of pulmonary hypertension. 7 month old male infant presented with cough, fast breathing, decreased oral acceptance and excessive irritability. Echocardiography was suggestive of severe pulmonary hypertension without any structural heart disease. Rapid progression, history of exclusive breast feeding, persisting lactic acidosis prompted us to investigate for thiamine deficiency. Low blood thiamine levels confirmed the diagnosis. It was further confirmed by thiamine challenge (IV thiamine for 5 days) with rapid clinical improvement. Mother was also found thiamine deficient, started on oral supplements. Hence thiamine deficiency should be considered in all infants with pulmonary hypertension of unknown origin.