Sarcoidosis in a 13-Year-Old Female

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Abstract Introduction Childhood Sarcoidosis is a rare granulomatous systemic inflammatory disease with known pulmonary involvement. Etiology is multifactorial, involving genetics and environmental factors. Early diagnosis in children is often difficult due to nonspecific clinical presentation. We report a 13- year-old female who presented with progressive dyspnea and restrictive pulmonary interstitial disease, sarcoidosis confirmed via lung biopsy. Case Report A 13-year-old white female with unremarkable history presented with progressively worsening dyspnea over 6 months. Occasional cough but no wheeze or fever present. Plays competitive basketball however progressive dyspnea with activity has prevented participation. At presentation, dyspneic climbing single stair flights. 1 kg weight loss in the 6 months despite normal intake. Seen by her PCP due to her symptoms and screening labs negative and referred to cardiology. She had negative EKG and ECHO but cardiopulmonary exercise testing with low FVC, prompting pulmonary evaluation. Evaluation significant for normal lung exam, early digital clubbing, and restrictive PFT pattern. Chest CT revealed non-specific interstitial lung disease (ILD). Laboratory studies with nonspecific elevated ANA. Lung biopsy showed non-caseating/non necrotizing granulomatous pneumonitis consistent with sarcoidosis. Extensive evaluation without additional organ system involvement. Initiated on systemic steroids with eventual maintenance therapy with infliximab with significant clinical and PFT improvement (see table 1). She has returned to track and basketball. Discussion Sarcoidosis is rare in children, with increased incidence in young adults, females, and blacks. Estimated incidence is 0.6-1.02/100,000 children. Exact etiology and pathogenesis unknown with proposed environmental exposure, infectious agents, and endogenous proteins as triggers of the granulomatous inflammation. Typical presentation is cough, dyspnea, fatigue, and chest pain; non-specific nature of findings can delay diagnosis. Chest CT findings confirm ILD, however aren't specific to sarcoidosis. Laboratory testing is useful, although in our case was not specific enough for diagnosis. Lung biopsy is the gold standard, with non-caseating/non necrotizing granulomatous inflammation. Lack of clear risk factors and non-specific symptoms require a high index of suspicion to facilitate prompt initiation of treatment thereby increasing likelihood of a good clinical outcome such as return to competitive athletics seen in this case.

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