Jana Manisha,  Bagri Narendra,  Chandola Stuti,  Kaur Pavneet

Final Pr. ID: Poster #: CR-046

A 12 year boy presented with cough, fast breathing and chest retraction to the pediatric casualty. He was afebrile at the presentation. Pulmonary function tests revealed reduced FEV1, FVC and single breath diffusing capacity (DLCO-SB). Subsequent HRCT chest revealed extensive emphysema-like appearance with interspersed reticulations in both lungs having upper lobar preponderance, resulting in increased lung volume. His past history revealed multiple hospital admissions since the age of 4 years with similar symptoms, but often accompanied by fever and treated with the presumptive diagnosis of pneumonia. At the time of presentation, he was on metered-dose inhalers (MDI) Foracort, oral corticosteroids, Lasilactone (spironolactone + furosemide) and placed on home oxygen therapy via concentrator.
In addition, he had right knee joint swelling. Laboratory investigations revealed increased serum ferritin (369 ng/mL), increased CRP and ESR (9.3 mg/L, ESR: 40 mm/hr), C3: 126 mg/dL, C4: 16 mg/dL, ANA: 1:100 (nucleolar pattern, 2+).
Whole exome sequencing revealed a pathogenic heterozygous variant in the STING1 gene (autosomal dominant inheritance), confirming the diagnosis of STING-Associated Vasculopathy with Onset in Infancy (SAVI). Along with the supportive treatment, Tofacitinib (Janus kinase inhibitor) and methylprednisolone pulse treatment was started.
STING-Associated Vasculopathy with Onset in Infancy (SAVI, OMIM #615934) is an autosomal dominant inherited type I interferonopathy with multisystem manifestations. Clinical features include variable cutaneous manifestations (rash, pustules, livedo reticularis, telangiectasia, distal acral gangrene), respiratory distress, joint stiffness, arthralgia, fever, recurrent infections and hyperinflammatory state. Imaging may reveal interstitial lung disease and fibrosis. ESR and CRP both are elevated. Clinical and imaging differentials include COPA syndrome (with more prevalent renal involvement, and no skin involvement) and other connective tissue disease related ILD. Read More

Authors:  Jana Manisha , Bagri Narendra , Chandola Stuti , Kaur Pavneet

Keywords:  Diffuse Lung Disease, CT