Pediatria pre prax 4/2023

Kabuki syndrome

Kabuki syndrome is a rare disease characterized by somatic stigmatization (specific facial features, bone abnormalities), growth disorder and various degree of mental delay. Other clinical manifestations are variable – any organ system may be involved. Hematological involvement is not typical. In the case report, we describe a 3-year-old girl with severe anemia, critical thrombocytopenia and agranulocytosis. The examinations confirmed autoimmune three-lineage cytopenia, resistant to standard therapy. Facial dysmorphia, strabismus, brachydactyly, hypertrophic cardiomyopathy was presented in the child. Genetic examination identified a pathogenic variant in the KMT2D gene associated with the Kabuki syndrome. Heterogenity and various severity of KS manifestations make establishment of diagnosis difficult, many patients remain undiagnosed for a long time. Impaired tolerance of T lymphocytes in patients with KS leads to an increased risk of autoimmune phenomena, so the disease can rarely manifest as an autoimmune-related hematological complication.

Keywords: Kabuki syndrome, autoimmune pancytopenia, KMT2D, sirolimus