Suspected Pediatric Sarcoidosis: Hypercalcemia in a 12-Year-Old Male

Author Type(s)

Faculty, Resident/Fellow

Document Type

Abstract

Publication Date

2022

DOI

https://doi.org/10.1136/jim-2022-ERM

Journal Title

Journal of Investigative Medicine

Department

Pediatrics

Abstract

Case Report History A 12 year old male with ADHD on lisdexamfetamine (Vyvanse) presented to his primary care physician with a 20 pound weight loss over the span of a year. His initial work up showed hypercalcemia, leukopenia, thrombocytopenia, and an elevated creatinine concerning for acute kidney injury. Physical Exam Upon examination, the patient was found to be hypertensive. He was otherwise in no acute distress. His exam was remarkable for lymphadenopathy and splenomegaly. Laboratory Findings and Diagnostic Imaging Initial labs showed hypercalcemia (16.1 mg/dL), elevated BUN (23 mmol/dL) and creatinine (1.52 mmol/dL), and leukopenia (3.27 k/mm3). Parathyroid hormone 5.8 pg/ml. Vitamin D 33.1 mg/ml. 1,25 OH VItamin D was 121.0 pg/ml. Urine calcium:urine creatinine ratio was 0.68. Initial rheumatology labs showed decreased IgG (250 mg/dL), IgA (21 mg/dL), IgM (7 mg/dL) levels, as well as elevated ACE level (143 nmol/mL/min). Renal ultrasound showed medullary nephrocalcinosis bilaterally. A lymph node biopsy demonstrated non-caseating granulomas suggestive of sarcoidosis. Immunology was consulted in the setting of his hypogammaglobulinemia. Treatment He was initially treated with calcitonin and subsequently started on prednisone 1 mg/kg/day with plan to transition to Humira. Final Diagnosis Pediatric Sarcoidosis Discussion Sarcoidosis is a multi-systemic granulomatous disease typically presenting with systemic manifestations such as malaise, fever and weight loss and commonly affecting the lungs, and hilar and peripheral lymph nodes. Histopathology demonstrates noncaseating granulomas in the tissues involved (Shetty, Chui). The incidence in children ranges from 0.06- 1.02 per 100,000 per year. The average ages affected are 11- 13 years old (Nathan). Older children and adolescents can present similar to adults, with multisystemic disease commonly involving the lungs, eyes, lymph nodes, and skin (Shetty, Chui). There are no diagnostic laboratory tests for sarcoidosis. However, in the setting of hypercalcemia, lymphadenopathy, and a lymph node biopsy demonstrating non-caseating granulomas, the diagnosis of sarcoidosis was supported in this patient. The differential for noncaseating granulomas includes infection, sarcoidosis or immunodeficiencies. Common variable immunodeficiency is a concern in this patient given his hypogammaglobulinemia as patients with sarcoidosis commonly have an elevated IgG. Corticosteroids are first line treatment in sarcoidosis and work to reduce systemic inflammation and granuloma formation, as well as hypercalciuria through inhibition of calcitriol synthesis (Conron). Upon diagnosis, our patient was initiated on prednisone. Immunosuppressants such as methotrexate or anti-TNF- α may also be used for refractory or systemic involvement. In this case report, we discuss a patient that required a multidisciplinary approach to confirm and treat the rare pediatric disorder of sarcoidosis.

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