ALCAPA syndrome: not just a pediatric disease.

An abnormal origin of left coronary artery from pulmonary artery (ALCAPA) syndrome is a rare congenital coronary artery abnormality. There are two types of ALCAPA syndrome for infants and adults, each with different abilities and results. Infants experience myocardial infarction and congestive heart failure, and about 90% die within 1 year after birth. ALCAPA syndrome is rarely seen in adults; it may be an important cause of sudden cardiac death. Historically, ALCAPA syndrome has been diagnosed with conventional angiography. However, the development of electronic angiographic synchronized multi-slice spiral CT (CT) angiography and magnetic resonance (MR) imaging enables accurate non-invasive imaging. In MR imaging and multi-row CT angiography, it was found to involve direct observation of the left coronary artery caused by the main pulmonary artery. Reflux from the left coronary artery to the main pulmonary artery can be seen in steady state free precession motion movies and high speed film phase contrast MR imaging. Because it can evaluate myocardial survival rate, it can be used as a prognostic factor leading to the necessity of surgical repair. Therefore, MR imaging plays an important role in patient care. Recovery of the dual coronary artery system is an ideal surgical treatment for ALCAPA syndrome

Zellweger Syndrome - (named after Hans Zellweger, a professor of pediatrics and genetics at the University of Iowa studying the disease), is one of four related diseases called peroxisome biosynthesis disorder (PBD) It is one. A larger group of diseases is called white matter dystrophy. These are genetic conditions that destroy the white matter of the brain, and how the body metabolizes specific substances of blood and organ tissues. Zellweger syndrome is the most serious PBD. Infantile Refsum Disease (IRD) is the mildest, neonatal adrenoleukodystrophy and rheumatoid dysplasia are similar, but not so serious. Zellweger syndrome is incurable and there is no standard cure. It is necessary to prevent infection to prevent complications such as pneumonia and dyspnea. Other treatments are symptomatic and supportive. Patients with Zellweger syndrome have poor prognosis

Pediatric mitochondrial disease caused primarily by the deficiency of mitochondrial complex I is a variety of diseases commonly associated with severe or fatal neurological diseases such as Lee's syndrome. Currently there are few options for treatment of mitochondrial respiratory chain dysfunction. Succinic acid is a mitochondrial substrate treated with complex II. As it can not pass through the cell membrane, researchers have made drugs (prodrugs) that can pass through cells from succinate. By providing the substrate for complex II in the mitochondria, the cells can reduce the metabolic limitations imposed by complex I deficiency and increase energy production. This effect was observed in human blood cells, fibroblasts and cardiac fibers.