C62-18 More Than Pneumonia: Alpha-1 Antitrypsin Deficiency in an 11-Month-Old Boy

Introduction Alpha-1 Antitrypsin Deficiency (A1ATD) is an autosomal recessive disorder characterized by reduced levels of alpha-1 antitrypsin (AAT), an antiprotease and natural inhibitor of serine proteases. A1ATD most commonly manifests with liver disease in childhood, and/or pulmonary disease starting in the 3rd decade of life. Childhood-onset lung disease in A1ATD has almost never been reported. Case Report An 11-month-old boy presented with prolonged fever of unknown origin. At 8 weeks, he presented with neonatal cholestasis and was diagnosed with A1ATD, with an A1AT level of 390 mg/L and phenotype PiZZ. He was without symptoms prior to this illness and subsequently managed with nutritional support, ursodiol, and vitamin supplementation. Initial laboratory evaluation was notable for marked leukocytosis (white blood cell count of 44 × 109/L), an absolute neutrophil count of 25 × 109/L, elevated C-reactive protein (40 mg/L), and thrombocytosis (platelet count of 1210 × 109/L). Serum ferritin was elevated at 347 ng/mL. Chest x-ray demonstrated nonspecific, increased perihilar interstitial markings, consistent with small airways disease or atypical pneumonia. A dense area in the right upper lung suggested partial collapse or developing pneumonia, with possible pleural involvement. The patient started on IV ceftriaxone 50mg/kg/day and IV vancomycin 15mg/kg/day. Infectious disease was consulted and recommended a CT chest given continued diagnostic uncertainty and the history of A1ATD. CT chest demonstrated paramediastinal right upper lobe consolidation and possible lymph node enlargement. CT also showed an incidental finding of basilar centrilobular emphysema and a small bullous lesion in the left lower lobe, likely secondary to the patient’s A1ATD (Figure 1). The patient experienced significant clinical and laboratory response to the addition of vancomycin, evidenced by improvement in activity, energy, and excellent PO intake. He was discharged on oral antibiotics and was fully asymptomatic at his one-month follow up. Discussion This case provides an important addition to our understanding of A1ATD and its respiratory manifestations. Pediatric development of emphysema has been rarely described, and this is the earliest documented case to date at 11-months of age. This is also the first finding of asymptomatic emphysema in childhood A1ATD, demonstrating that disease progression may be chronic and may transition from asymptomatic to symptomatic disease. As expected, changes were in a basilar pattern, which supports a similar disease progression from adult disease development. A continued focus on early-onset emphysema and respiratory risk factors may further elucidate disease pathogenesis and provide a basis for guiding therapeutic interventions. This abstract is funded by: None