Percutaneous transluminal renal angioplasty (PTRA) is a well-established method to treat renal artery stenosis (RAS) in children and adults. However, a significant number of stenoses might not be treated by interventional techniques due to the inability to dilate the RAS. Conventional balloon angioplasty with a high-pressure coronary angioplasty balloon at 20 atm was unable to dilate a significant RAS in a 12-year-old child with severe renovascular hypertension (RR 195/125 mm Hg). After using a 4 mm cutting balloon, we achieved wide patency of the renal artery and an instant normalization of blood pressure without further need of antihypertensive therapy. PTRA using the cutting balloon technique may offer an additional therapeutic option for selected patients in whom conventional balloon angioplasty was not able to dilate RAS.

We report on a 2-year-old girl with situs ambiguus comprising right-sided stomach and spleen, left-sided liver and complex cardiac defect. Psychomotor development of this patient was normal, and no other major abnormalities were present. Chromosome analysis revealed a de novo balanced chromosome translocation t(X;1)(q26;p13.1). Molecular cytogenetic investigations identified a breakpoint spanning BAC clone on the X-chromosome containing the ZIC3 gene. Mutations in ZIC3 are associated with situs ambiguus and cardiac defects predominantly in males. This is the first report of a live born girl with an X-autosome translocation involving the ZIC3 region.

Accurate glycosylation of proteins is essential for their function and their intracellular transport. Numerous diseases have been described, where either glycosylation or intracellular transport of proteins is impaired. Coat protein I (COPI) is involved in anterograde and retrograde transport of proteins between endoplasmic reticulum and Golgi, where glycosylation takes place, but no association of defective COPI proteins and glycosylation defects has been described so far. We identified a patient whose phenotype at a first glance was reminiscent of PGM1 deficiency, a disease that also affects N‐glycosylation of proteins. More detailed analyses revealed a different disease with a glycosylation deficiency that was only detectable during episodes of acute illness of the patient. Trio‐exome analysis revealed a de novo loss‐of‐function mutation in ARCN1, coding for the delta‐COP subunit of COPI. We hypothesize that the capacity of flow through Golgi is reduced by this defect and at high protein synthesis rates, this bottleneck also manifests as transient glycosylation deficiency.

This report shows that in selected patients with a severe form of neonatal Bartter's syndrome, the new cyclooxygenase-2 inhibitor rofecoxib may control the clinical symptoms of hyperprostaglandin-E syndrome after ineffective indomethacin therapy.

We report the immediate results in a group of selected patients with native or recurrent coarctation of the aorta who underwent endovascular stent implantation using the newly designed Cheatham-Platinum (CP)-stent. The balloon-expandable stents were implanted in 6 patients (mean age 12.7 years) with coarctation of the aorta (5 native, 1 recurrent). The maximal systolic peak pressure gradient was decreased from 49 to 3 mmHg (p <0.001). There was a 350% increase in the mean diameter at the original coarctation site (3.8 to 13.8 mm, p <0.01). Although the maximal diameter varied from 8 to 18 mm, there was only a minor reduction in the length of the CP-stents used (max. 11%). The dilatation was successful in all patients and there were no complications during balloon dilatation or stent implantation. All patients were hypertensive prior to stent implantation, with three of them requiring antihypertensive drug therapy. In 2 patients only a moderate dilatation diameter was chosen initially due to the extremely small coarctation site (1 mm) and repeat dilatation after 12 months was performed in order to obtain a maximal aortic diameter. At a mean of 18 months of follow-up, 5 of 6 patients are normotensive. There is no recurrence of coarctation, aortic dissection or aneurysm formation and no stent displacement. These findings suggest that the implantation of CP-stents for coarctation of the aortamay cover a wide spectrum of aortic diameters and consequently hereby offer an effective alternative approach to surgery or ballon dilatation alone even in infancy and childhood. The potential for redilatation of CP-stents in a wide range of diameters without significant shortening adds to the benefit of this device in growing children.