Biomarkers in Juvenile Systemic Sarcoidosis: A Case Report and Literature Review

Background: Juvenile sarcoidosis represents a spectrum of rare granulomatous inflammatory conditions characterized by non-caseating granulomas that can affect multiple systems. Nonetheless, no laboratory markers can conclusively indicate a diagnosis of sarcoidosis. In this report, we discuss the role of serum soluble interleukin-2 receptor (sIL-2r) levels in supporting the diagnosis of sarcoidosis in a child with ocular, renal, and pulmonary involvement. We further discuss trends in this marker, as well as serum angiotensin converting enzyme (ACE) and 1,25(OH)2D levels, in relation to disease activity and response to treatment. Case Presentation: A previously healthy 14-year-old Arabic girl presented with fever, anorexia, and dyspnea upon exertion. She exhibited elevated levels of acute-phase reactants, anemia, elevated serum creatinine, and proteinuria. An eye exam revealed bilateral uveitis. High-resolution computed tomography (CT) of the chest revealed subpleural interlobar septal thickening with reticular changes and subtle ground glass opacities. The results of an extensive work-up to rule out infectious etiology, immune deficiency, malignancy, and other rheumatic diseases were unremarkable. Serum levels of sIL-2r were extraordinarily high at 18,589 U/L (normal range: 223–710 U/L), and the trend of subsequent measurements correlated with disease response and disease reactivation. Although ferritin levels were elevated at 1,136 ng/mL (normal: 13–68 ng/mL), bone marrow biopsy was negative for hemophagocytosis. Kidney biopsy revealed granulomatous interstitial nephritis with tubular atrophy. Serum ACE and 1,25(OH)2D levels were also elevated at diagnosis. The patient was treated with glucocorticosteroids, mycophenolate mofetil, and anti-tumor necrosis factor (anti-TNF). Clinical responses to such treatment were correlated with trends in serum sIL-2r and 1,25 (OH)2D levels, but not with trends in serum levels of ACE. Conclusions: Our findings highlight the promise of sIL-2r as a marker of diagnosis and disease activity during the treatment period in patients with juvenile sarcoidosis. Further prospective studies involving large cohorts of patients with childhood sarcoidosis are required to elucidate the diagnostic and prognostic roles of serum sIL-2r levels.

Atypical Early Onset Juvenile Sarcoidosis Presenting with Osteolytic Lesions

Sarcoidosis is a potentially fatal systemic inflammatory granulomatous disease, can occur in adult and pediatric patients, but it is relatively rare in children. Juvenile sarcoidosis has a diverse clinical course depending on the age of onset. Bone involvement is rarely noted in children with sarcoidosis and usually seen late in the course of the disease and is rarely the initial manifestation. Here we report a case of early onset juvenile sarcoidosis revealed by cutaneous and osseous lytic lesions of the phalanges. Keywords: Atypical, Early onset, Juvenile, Sarcoidosis, Osteolytic lesions, Osseous sarcoidosis, Phalanges.

The Diversity of Juvenile Sarcoidosis Symptoms

We report a case of juvenile sarcoidosis, emphasizing the variety of clinical manifestations. The child had uveitis, which is among the most common manifestations of the disease. However, fever of unknown origin, glomerulonephritis and lymphadenopathy were also noticed, underscoring the diversity of the clinical spectrum of the disease.