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Abstract #100852 Published in IGR 23-1
Early-Age Manifestation of Singleton Merten Syndrome With Systemic Lupus Erythematosus Features: A Case Report
Alzahrani YM; Alamoudi AA; Nahar NK; Albar RFCureus 2022; 14: e25244
Singleton Merten syndrome (SMS) is one of the rarest multisystem genetic disorders that had been recognized in only a few cases. Patients who have this syndrome often present with calcification of the aorta and heart valves, dental dysplasia, joint calcification, distinct facial features, and growth and developmental delay. Other physical findings usually associated with SMS may include glaucoma, skeletal abnormalities including tendon rupture, muscle weakness, and arthropathy. In individuals with SMS, autoimmune diseases like psoriasis and systemic lupus erythematosus (SLE) can occur. In this case, we report a pre-term baby girl that developed congenital aortic calcification, renal hypertension, dental anomalies, multiple joint calcifications, atypical facial features, mild mental retardation, and developmental delay. At 17 years, the patient developed SLE based on positive antinuclear antibody (ANA) with clinical and immunological features like fever, malar rash, pericardial effusion, proteinuria, high ANA concentration, high anti-double-stranded DNA, low C4 complement, and presence of anti-Smith antibodies.
College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, SAU.
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