An 11-year-old boy who presented with a four-year history of hypoxemia, ongoing hemoptysis and easy fatigability. His chest X-ray showed diffuse nodular infiltrates, resembling a pattern interpretable as miliary tuberculosis (Figure 1, Figure 2). The patient was repeatedly treated for pulmonary TB for a total period of three years, without treatment response. TB cultures and smears remained negative. Upon referral to a recently established specialist respiratory service, a HR-CT scan showed diffuse ground glass infiltrates (Figure 3, Figure 4). Consecutive bilateral alveolar lavage showed diffuse pulmonary hemorrhage (Figure 5), while histology of trans-bronchial biopsy demonstrated iron loaded pulmonary macrophages (Figure 6, Figure 7). The findings confirm the diagnosis of IPH. During his course of disease, the boy was admitted and investigated several times at his local hospital. This included treatment in an ICU in 2008, where he was diagnosed with severe pneumonia, pulmonary edema and respiratory failure. History reported an ongoing non-productive cough for one week, shortness of breath, hemoptysis and generalized weakness. On presentation severe respiratory distress, hypoxemia and pyrexia were reported. Treatment included a course of broad spectrum antibiotics, furosemide and steroids. The patient was started on TB treatment after discharge (he had a positive TB contact) despite that TB smear, microscopy and repeated cultures remained negative. He had received a blood transfusion after laboratory investigations revealed a hemoglobin (Hb) level of 6.60 g/dl, with a mean cell volume (MCV) 65fl and mean cell hemoglobin (MCH) 17.4 pg, in keeping with iron deficiency anemia. Further investigations showed normal liver function, renal function, serum electrolytes and clotting profile. HIV serology, auto-immune screen (ANA, anti-DS DNA, RF) and TB Mantoux test were negative. After discharge from ICU he continued TB treatment, but without substantial improvement of symptoms and more admissions to the local hospital. After three years he was referred for a second opinion to a pediatrician and onwards to a specialist respiratory service, which allowed the diagnosis of IPH. At referral the patient had an acute episode with deterioration of oxygen saturation from above 85% to the 60-75%. The chest X-ray demonstrated a miliary picture (Figure 1). After establishing the diagnosis, hypoxia and X-ray changes resolved after a week of high dose steroids (2mg/kg prednisolone) and he was discharged home without home oxygen. Outpatient treatment included milk-free diet, tapered doses of steroids for two months, followed by inhaled budesonide 400 mcg BD and hydroxychloroquine which was discontinued after his eyesight deteriorated at six months. One year after diagnosis he remains in remission on inhaled corticosteroids and milk-free diet.
HR-CT scan showing diffuse ground glass opacities indicative of alveolar haemorrhage and thickened interlobar septae, indicating extent of disease.