No abstract

Although epilepsy is reported to be common among patients with ASA, very few long-term follow-up studies are available. The pathophysiological mechanism of epileptogenesis remains unclear. Neither hyperammonaemia nor acute symptomatic seizures at birth seem to be predictive of late epilepsy. Excessive arginine dosages as a cause of epilepsy could be reasonably excluded since our 3 late onset patients developed epilepsy before the diagnosis of ASA, at a time when they were likely to be arginine deficient. Arginine deficiency may not be excluded as cause of epilepsy, but further studies are needed to define its role.

Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder caused by mutations in the cohesion complex and its regulators. The syndrome is characterized by multiple organ system abnormalities, pre- and post-natal growth retardation and typical facial features. Thrombocytopenia is a reduction in platelet count to <150 × 10(9)  L. It can be caused by congenital or acquired decreased production, increased destruction, or sequestration of platelets. In recent years, several papers reported thrombocytopenia and immune thrombocytopenia in patients affected by CdLS. In 2011, Lambert et al. estimated the risk of idiopathic thrombocytopenia purpura in CdLS patients to be 31-633 times greater than in the general population. We describe the incidence of thrombocytopenia in 127 Italian CdLS patients, identifying patients with transient or persistent thrombocytopenia, but a lower incidence of true idiopathic thrombocytopenic purpura (ITP).

We report on a boy with clinical and molecular diagnosis of Cornelia de Lange syndrome (CdLS). Besides the CdLS typical features, he shows split hand and split feet. To the best of our knowledge, only one other patient with similar finding has been reported in CdLS patients.