A Unique Case of Thiamine-Responsive Acute Pulmonary Hypertension of Early infancy (TRAPHEI): A Positive Outcome Against the Odds

Thiamine deficiency in infants can lead to severe metabolic disturbances, including pulmonary arterial hypertension (PAH). Thiamine-Responsive pulmonary artery hypertension of early infancy (TRAPHEI) is a rare condition that warrants early recognition and intervention. We present a case of a 4-month-old exclusively breastfed infant referred for respiratory distress. The infant exhibited signs of tachypnoea, tachycardia, and prolonged capillary refill time. Initial investigations revealed metabolic acidosis, and echocardiographic findings of severe pulmonary hypertension (PASP 71 mmHg). Managed with intravenous normal saline, sodium bicarbonate, oxygen support, and IV thiamine (100 mg). Rapid clinical improvement was noted after thiamine supplementation. A repeat echocardiogram 24 hours post-treatment showed resolution of pulmonary arterial hypertension. This case underscores the critical importance of early diagnosis and treatment of thiamine deficiency in infants, particularly those with nutritional risks. Thiamine supplementation can significantly improve outcomes and reduce morbidity associated with TRAPHEI.