Sarcoidosis in 3 adolescent patients with DiGeorge syndrome

Abstract

Rationale Three adolescent patients with DiGeorge syndrome developed sarcoidosis. Two of these patients were also being treated with growth hormone (GH). Methods Retrospective chart reviews were conducted. Results The first patient is a 13 year old male with complete Digeorge syndrome who received 2 fetal thymus transplants in infancy and developed respiratory symptoms thought to be asthma at 5.5 years. He began GH and continued intermittently through age 11 years. Lymph node biopsies at age 8 and 11 years showed noncaseating granulomas leading to the diagnosis of sarcoidosis. The second patient is a 16 year old male with partial Digeorge syndrome who developed splenomegaly near the end of his first decade of life. He later developed diffuse adenopathy and respiratory symptoms. Lymph node and splenic tissue at 14.9 years showed noncaseating granulomas. He has been treated with GH since age 15 years. The first two patients responded to treatment with steroids. The third patient is a 19 year old female with partial Digeorge syndrome who developed skin nodules and lymphadenopathy at age 17 years. A skin nodule biopsy revealed granulomatous dermatitis consistent with sarcoidosis. She responded to treatment with hydroxychloroquine. Conclusions Patients with Digeorge syndrome are at risk for developing sarcoidosis.