Autoimmune haematological disorders in two Italian children with Kabuki Syndrome
نویسندگان
چکیده
Kabuki syndrome (also called Niikawa-Kuroki syndrome) is a rare genetic disease described for the first time in Japan, characterised by anomalies in multiple organ systems and often associated with autoimmune disorders and impaired immune response. We herein report the clinical history, the therapeutic approach and the outcome of two children with Kabuki syndrome who developed autoimmune haematological disorders (haemolytic anaemia and immune thrombocytopenia). Factors regarding differential diagnosis and interventions in better management of this syndrome and its complications are discussed. This is the first report of Italian children with autoimmune haematological disorders complicating Kabuki syndrome.
منابع مشابه
Kabuki Syndrome
Disease characteristics. Kabuki syndrome (KS) is characterized by typical facial features (elongated palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild to moderate intellectual disability, and postnata...
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SIR—Kabuki syndrome is a rare multiple malforma-tion ⁄ mental retardation syndrome. The exact cause re-mains unknown and multiple possible genetic abnormalities have been reported. Drs Niikawa and Kuroki first described the disease in 10 unrelated children in 1981 (1). The name ‘Kabuki make-up syndrome’ is from the similarities of the faces of affected children with makeup from traditional Japa...
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