Sengers syndrome is an autosomal recessive condition characterized by congenital cataract, hypertrophic cardiomyopathy, skeletal myopathy and lactic acidosis. Mutations in the acylglycerol kinase (AGK) gene have been recently described as the cause of Sengers syndrome in nine families. We investigated the clinical and molecular features of Sengers syndrome in seven new families; five families with the severe and two with the milder form. Sequence analysis of AGK revealed compound heterozygous or homozygous predicted loss-of-function mutations in all affected individuals. A total of eight different disease alleles were identified, of which six were novel, homozygous c.523_524delAT (p.Ile175Tyrfs*2), c.424-1G > A (splice site), c.409C > T (p.Arg137*) and c.877 + 3G > T (splice site), and compound heterozygous c.871C > T (p.Gln291*) and c.1035dup (p.Ile346Tyrfs*39). All patients displayed perinatal or early-onset cardiomyopathy and cataract, clinical features pathognomonic for Sengers syndrome. Other common findings included blood lactic acidosis and tachydyspnoea while nystagmus, eosinophilia and cervical meningocele were documented in only either one or two cases. Deficiency of the adenine nucleotide translocator was found in heart and skeletal muscle biopsies from two patients associated with respiratory chain complex I deficiency. In contrast to previous findings, mitochondrial DNA content was normal in both tissues. We compare our findings to those in 21 previously reported AGK mutation-positive Sengers patients, confirming that Sengers syndrome is a clinically recognisable disorder of mitochondrial energy metabolism.

Video-assisted thoracoscopic surgery has proved to be a safe and effective method with low complication and high success rates. From 1997 to 2008, 2,000 consecutive patients with patent ductus arteriosus underwent closure of the ductus with 2 titanium clips via a video-assisted thoracoscopic technique. Complete closure was confirmed using our handmade intraesophageal stethoscope. The mean age was 5.2 years, and mean weight was 9.8 kg. One death was reported 1 month after surgery, due to sepsis during hospitalization for chylothorax treatment. The procedure was converted to an emergency thoracotomy in one case, due to ductal wall rupture. There were 4 late residual shunts treated via thoracotomy. We observed transient laryngeal nerve dysfunction in 14 patients. All patients were reassessed by postoperative echocardiography. The mean procedure (skin-to-skin) time was 10 ± 2 min, and hospitalization was 21 h. This study indicates that video-assisted thoracoscopic closure of patent ductus arteriosus is a safe, simple, and cost-effective method with low complication and high success rates. Furthermore, the cosmetic benefits make it appropriate as an out-patient procedure.

Purpose: Sydenham chorea is known for its rapid, irregular, and aimless involuntary movements and is considered a benign and self-limiting condition among the major manifestations of rheumatic fever. The current study reviewed the demographic, clinical, and paraclinical findings of pediatric patients with Sydenham chorea.Methods: This cross-sectional study was conducted among 22 patients with Sydenham chorea who were admitted to the pediatric wards of Mashhad Imam Reza and Ghaem Hospitals between 2006 and 2016. Data from these patients’ medical records were extracted, organized using checklist forms, and analyzed.Results: Eight patients were male and 14 were female. The average age was 10.09±3.53 years. In 31.8% of patients, chorea was the only sign of rheumatic fever. Chorea was unilateral in 21.1% of patients. The most common clinical findings were, in descending order, jerky movements, facial grimacing, gait disorders, mental disorders, speech disorders, muscle weakness, and milkmaid’s grip. Cardiac auscultation was normal in 76.2% of patients, while a holosystolic murmur was heard in 23.8%. In laboratory exams, 50% of patients were erythrocyte sedimentation rate (ESR)-positive, 31.2% were C-reactive protein (CRP)-positive, and 53.3% were anti-streptolysin O (ASO)-positive. Echocardiography showed the prevalence of mitral regurgitation (63.6%), aortic regurgitation (45.5%), tricuspid regurgitation (22.7%), pulmonary regurgitation (4.5%), and pericardial effusion (4.5%).Conclusion: This study showed that Sydenham chorea can be the only sign of rheumatic fever. This disease typically occurs in children between the ages of 7 and 12. ESR, CRP, and ASO can be the most effective laboratory tests for diagnosis.