Abstract
Thrombocytopenia was first reported in Cornelia de Lange syndrome (CdLS) by Froster in 1993. Despite early reports, thrombocytopenia has been rarely reported in this disorder. We performed a retrospective analysis of a large cohort of patients with CdLS. We calculated prevalence of thrombocytopenia in three subsets of this cohort: the entire cohort (n = 1,740), a subset of subjects with substantial clinical records (n = 695) and a subset of subjects with clinical information regarding platelet counts (n = 85). This analysis revealed that 15 have had thrombocytopenia (18% of those with available blood counts); seven had immune thrombocytopenia (ITP). The reported prevalence of pediatric ITP is between 5 and 13 per 100,000 persons. The prevalence of ITP in this cohort is between 7/1,740 and 7/85, giving a relative risk of ITP of between 30 (CI 12-77) and 633 (CI 259-1,549). Contrary to the reported cases in the literature, none of our patients have had progression of the thrombocytopenia nor have they developed other cytopenias. All 15 patients with thromobocytopenia had CdLS based on clinical criteria. Of the 10 patients tested for mutations in NIBPL, 8 had mutations identified. These data support an increased incidence of thrombocytopenia and ITP in CdLS. Subsequently, patients are at risk for spontaneous hemorrhage, and likely increased risk secondary to the high frequency of self-injurious behavior. Although further studies are needed to better define the scope of the problem and to define the mechanisms of thrombocytopenia in CdLS, we would recommend screening for thrombocytopenia upon diagnosis and at 5-year intervals thereafter.