TOPIC: Pediatrics TYPE: Medical Student/Resident Case Reports INTRODUCTION: Cystic interstitial lung disease (ILD) is rare in pediatrics. The differential includes genetic, congenital and acquired diseases. Often, diagnosis can be made by history and radiologic findings. However, lung biopsy and genetic testing is often necessary. CASE PRESENTATION: A 13-year-old male with PMH of asthma, allergic rhinitis (AR), eczema, chronic urticaria and no hospitalizations or surgeries was seen by an allergist for urticaria after initiation of immunotherapy. A CXR, obtained for RUL crackles heard on exam, demonstrated bilateral, R>L, upper lobe infiltrates and R hilar adenopathy. He was referred to pulmonology. Medications were Flovent and Claritin, NKDA and was a healthy term baby. No family history of asthma or CF, but mother has AR and his deceased father and paternal grandmother had sarcoidosis. No exposure to smokers, pets, carpet, farms or birds. At his pulmonology visit, repeat CXR, CBC, CMP, IgE, Aspergillus Ab, QuantiFERON gold and HP were obtained. They were normal except for the CXR, which had increased perihilar and suprahilar interstitial densities. HP panel had positive antibodies from underlying allergies. CXR prompted a chest CT which showed cystic ILD in the mid and upper lobes bilaterally with a few lesions in the lower lobes. Ground glass opacities with a honeycombing pattern were in the lung apices, but no bronchiectasis. Initial PFT showed mixed obstructive-restrictive pattern. Follow up PFT confirmed restriction, TLC 65%. DLCO mildly reduced. Normal sweat test and echo. At his bronchoscopy he complained of dyspnea on exertion. Bronchoscopy was normal. Lung biopsy showed advanced fibrotic ILD with honeycomb changes and focal dense eosinophilic aggregates, consistent with HP or surfactant deficiency. Due to dyspnea, he had pulse steroids (30mg/kg dailyx3 days), transitioned to daily steroids and weaned over 8 weeks. He was discharged with presumed diagnosis of HP, pending genetic studies. During the steroid wean, surfactant panel showed a heterozygous mutation in the surfactant protein C gene (SFTPC), c.218T>C. He was diagnosed with SP-C deficiency and started on hydroxychloroquine 400mg/day and Azithromycin 500mg 3x/week. Pulse steroids are biweekly. DISCUSSION: SP-C mutation comprises 0.36 cases per million children. Surfactant proteins A and D are involved in the immune defense and SP-B and -C prevent alveolar collapse. SP-C is a dominant condition with 55% mutations arise spontaneously. SP-C mutations are difficult to diagnose due to variability in presentation. Prognosis is variable. An interesting aspect is the family history of sarcoidosis, a disease without a definitive test. It is possible the father had SP-C deficiency and was misdiagnosed. CONCLUSIONS: This case illustrates the variable presentation of SP-C deficiency, with cystic lesions and ground glass opacities on CT. It serves as a reminder that the differential should include SP-C deficiency. REFERENCE #1: PMID: 30094155 REFERENCE #2: PMID: 24605255 REFERENCE #3: https://doi.org/10.1542/peds.2015-2725 DISCLOSURES: No relevant relationships by Emma Segal, source=Web Response No relevant relationships by Heather Staples, source=Web Response
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