how to cite this article: boroujerdi r, shariati m, naddafnia h, rezaei h. small duplication of hprt 1 gene may be causative for lesh- nyhan disease in iranian patients. iran j child neurol. 2015 winter;9(1):103-106. abstract deficiency of hypoxanthine-guanine phosphoribosyltransferase (hgprt) is a rare inborn error of purine metabolism and is characterized by uric acid overproduction along wit...

Aicardi syndrome is a congenital neurodevelopmental disorder associated with significant cognitive and motor impairment. Diffusion tensor imaging was performed on two subjects with Aicardi syndrome, as well as on two matched subjects with callosal agenesis and cortical malformations but not a clinical diagnosis of Aicardi syndrome. Whole-brain three-dimensional fiber tractography was performed,...

Multifocal ectopic premature Purkinje-related complexes syndrome is a rare form of arrhythmia involving the entire His-Purkinje system (HPS), characterized by frequent polymorphic ventricular contractions (PVCs) relatively narrow QRS, which could be arising from HPS and associated with high probability dilated cardiomyopathy. We presented clinical courses 6 pediatric patients multifocal syndrom...

The presence of Wolff-Parkinson-White (WPW) syndrome in patients presenting with syncope suggests that tachyarrhythmia may be the cause. However, the symptoms require careful evaluation. Two young patients presented with syncope and were found to have WPW syndrome on their ECG. In both patients symptoms were suggestive of vasovagal syncope. During tilt testing, both the patients developed their...

The development of action is depicted as consisting of changes in the task-specific couplings between perception, movement, and posture. It is argued that this approach may provide a much needed basis from which attempts can be made at theoretically unifying the constituents of the clinical continuum (viz., early detection, diagnosis, prognosis, and intervention). Illustrative examples germane ...

Background. Animal studies have suggested that the temperature of the electrode-tissue interface during radiofrequency catheter ablation accurately predicts lesion size. The purpose of the current study was to evaluate the utility of continuous temperature monitoring during radiofrequency catheter ablation in patients with Wolff-Parkinson-White syndrome. Methods and Results. Twenty patients wit...

Background. A pace mapping technique using body surface potential maps (BSPMs) was developed to guide the positioning of an ablation catheter at the ventricular insertion point of accessory pathways (AP) in patients with the Wolff-Parkinson-White syndrome (WPW). Methods and Results. The study was performed on 30WPW patients. BSPMs were recorded with 63 leads distributed over the entire torso su...

BACKGROUND Bland-White-Garland syndrome (anomalous origin of the left coronary artery from the pulmonary artery) is a rare disease which may result in myocardial infarction, congestive heart failure and sometimes death during the early infantile period. CASE PRESENTATION A successfully treated case of a 45-year-old mother of 2 children with Bland-White-Garland syndrome and concomitant severe ...