Systemic lupus erythematosus associated with RASopathy. Issue 2 (3rd July 2017)

• Record Type: Journal Article
• Authors: Hanaya, Aki; Miyamae, Takako; Kishi, Takayuki; Sahara, Masumi; Tani, Yumi; Yamanaka, Hisashi; Nagata, Satoru
• Is Part Of: Modern rheumatology case reports. Volume 1:Issue 2(2017)
• Page Start: 94
• Page End: 98
• Publication Date: 2017-07-03
• Subjects: Hypocomplementemia -- juvenile -- pericarditis -- RASopathy -- systemic lupus erythematosus; Rheumatology -- Periodicals; 616.723005
• DOI: 10.1080/24725625.2017.1337310
• Languages: English
• ISSNs: 2472-5625

Abstract

Abstract: We report a 13-year-old Japanese boy with RASopathy (Noonan syndrome and Noonan-related syndromes) complicated by systemic lupus erythematosus (SLE). The diagnosis of RASopathy was made on the basis of stature and mental retardation, characteristic facial dysmorphia and sparse, thin hair. A heterozygous mutation in SHOC2 had been identified at the age of 9. He was evaluated by our institution for a chief complaint of fever and abdominal pain. He was found to have an enlarged cardiac silhouette (cardiothoracic ratio 77.8%) and extensive pericardial fluid, suggesting the presence of cardiac tamponade due to pericarditis. The patient met the diagnostic criteria for pediatric systemic lupus erythematosus (pSLE) (Japan Ministry of Health, Labour and Welfare, 1986); pericarditis, positive antinuclear antibody, immunological disorder (anti-ds DNA, anti-Sm, anti-U1 RNP), and hypocomplementemia. Other SLE features, such as rash, arthritis, renal involvement, and hematological disorders, were not observed. After an initial methylprednisolone burst, he was treated with 30 mg/day of prednisolone (PSL) and cyclosporine for four weeks, after which the dose of PSL was gradually decreased. The clinical manifestations subsided and antinuclear antibody, anti-dsDNA, and anti-U1 RNP reverted to negative, although hypocomplementemia and antiphospholipid antibodies remained present over the next 20 months of observation. RASopathy is a rare syndrome, and is often complicated by autoimmune disorders such as SLE. In this case, pericarditis was the sole clinical manifestation of pSLE. The clinical features of SLE associated with RASopathy are different from typical childhood-onset SLE.