Factor X deficiency and intracranial bleeding: who is at risk?

Very few mutations of the gene encoding for coagulation factor X (FX) have been found associated with intracranial haemorrhage (ICH) due to FX deficiency (FXD). No guidelines exist as to when prophylaxis in FXD should be started and how patients at risk for ICH can be identified. We report on a novel mutation causative for ICH in a family of Iranian origin and provide a summary of all published mutations in the FX gene related to ICH.

Perioperative outcome of patients with esophageal atresia and tracheo-esophageal fistula undergoing open versus thoracoscopic surgery.

Introduction: Thoracoscopic approach for repair of esophageal atresia (EA) and tracheo-esophageal fistula (TEF) has become a standard procedure in many pediatric surgical centers. Thoracoscopic surgery in a newborn is demanding from both the surgeon and the patient. The potential benefits for the newborn are still discussed by neonatologists, pediatric intensive care physicians, and also parents.

Neonatal Marfan syndrome: unusually large deletion of exons 24-26 of FBN1 associated with poor prognosis.

Neonatal Marfan syndrome is a very rare subset of the classical Marfan syndrome with pronounced phenotypic expression especially of the cardiovascular manifestations. It is associated with a very poor prognosis, with approximately 50% of affected infants dying from cardiac failure during the first year of life. We present a newborn with the classical phenotype of neonatal Marfan syndrome.

[Dimenhydrinate overdosage in a 3(1/2) year-old-girl with dilative cardiomyopathy].

Dimenhydrinate overdosage in a 3(1/2) year-old-girl with dilative cardiomyopathy. Dimenhydrinate (Vomex(R)) is frequently used in the treatment of sickness and vomiting. The symptoms of overdosage present like an anticholinergic syndrome.

[A life-threatening cardiomyopathy following port-a-cath infection under immune tolerance therapy].

The development of inhibitors in patients with severe haemophilia A is a serious complication requiring long term immune tolerance therapy (ITT). ITT frequently requires implantable central venous access, mostly port catheters. Their use may be complicated by thrombosis and infection.