The clinical utility of MRI in patients with neurodevelopmental disorders of unknown origin.

Introduction: Neuroimaging of the brain in the diagnostic work-up of patients with neurodevelopmental disorders is a matter of continuing debate. Recommendations range from performing brain imaging in all patients with neurodevelopmental disorders to performing an MRI only in those with indication on clinical examinations. Important indications for neuroimaging are head size abnormalities and focal neurological findings.

Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.

We report on a patient with developmental delay and several facial characteristics reminiscent of Wolf-Hirschhorn syndrome, who carries a terminal 4p16.3 deletion of minimally 1.691 Mb and maximally 1.

Yield of additional metabolic studies in neurodevelopmental disorders.

The timing and yield of metabolic studies for patients with neurodevelopmental disorders is a matter of continuing debate. We determined the yield of additional or repeated metabolic studies in patients with neurodevelopmental disorders. Patients referred to a tertiary diagnostic center for patients with unexplained neurodevelopmental disorders were included.

Rhabdomyolysis in early-onset very long-chain acyl-CoA dehydrogenase deficiency despite normal glucose after fasting.

A patient with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency presented in the neonatal period with hypoketotic hypoglycaemia and at the age of 1 year with rhabdomyolysis and normal glucose after fasting. Rhabdomyolysis may occur in the absence of hypoglycaemia in young infants as well as in older patients.

Myocardial blood supply by left ventricle-to-coronary artery channel: an old idea revisited.

Coronary artery disease is one of the most important causes of death in Western society. Attempts to revascularize the coronary artery by myocardial retroperfusion, direct revascularization from the left ventricle, and bypass surgery have finally led to percutaneous transluminal coronary angioplasty (PTCA) and coronary artery bypass grafting (CABG) as standard treatment for coronary artery disease. Direct revascularization from the left ventricle has already been studied in the late 1960s, but the idea was rejected because of a decrease in flow in combination with a failure of myocardial function.