İlke BEYİTLER, Yeliz ENGİNDERELİ, Mahmut Çerkez ERGÖREN
Cyprus Journal of Medical Sciences - 2026;11(4):323-328
Kleefstra syndrome-2 (KLEFS2) is an extremely rare autosomal dominant condition characterized by a neurodevelopmental disorder and multisystem involvement. The main clinical manifestations include intellectual disability, autistic features, hypotonia, and dysmorphic facial features. We describe a unique case of KLEFS2 in a patient with multiple disorders, treated with anakinra for colchicine-resistant familial Mediterranean fever, who also has delta-beta thalassemia, dyserythropoietic anemia, and butyrylcholinesterase deficiency. A diagnostic dilemma arose because of several abnormalities and distinctive features. This KLEFS2 case exhibited a mild phenotype without neurological deformities. These findings suggest a possible polygenic influence or a convergence of pathways contributing to the complex phenotype. When several abnormalities lead to a diagnostic dilemma, polygenic etiology should be considered.
