A Comprehensive Approach to the Diagnosis of Leigh Syndrome Spectrum.

Background: Leigh syndrome spectrum (LSS) is a novel nomenclature that encompasses both classical Leigh syndrome and Leigh-like phenotypes. Given the heterogeneity of disease presentation, a new consensus published recently addressed the main issues and proposed general guidelines towards diagnosis. Based on these recommendations, we developed a simple pipeline that can be useful in the diagnosis of LSS.

Dyslipidemia Diagnosis and Treatment: Risk Stratification in Children and Adolescents.

Dyslipidemias or dyslipoproteinemias are quantitative changes in total cholesterol concentration, respective fractions, or triglycerides in the plasma. Evidence supported that dyslipidemia in childhood is associated with atherosclerosis in adulthood, and early identification and treatment potentially reduce cardiovascular risk in adulthood, which is the principal cause of morbidity and mortality in developed countries. Dyslipidemias can result from primary lipoprotein metabolism changes due to different genetic causes (primary dyslipidemias) or as a consequence of exogenous factors or other pathologies (secondary dyslipidemias).

Iron-sulfur cluster ISD11 deficiency ( gene) presenting as cardiorespiratory arrest and 3-methylglutaconic aciduria.

In the era of genomics, the number of genes linked to mitochondrial disease has been quickly growing, producing massive knowledge on mitochondrial biochemistry. gene codifies for ISD11, a small protein (11 kDa) acting as an iron-sulfur cluster, that has been recently confirmed as a disease-causing gene for mitochondrial disorders. We present a 4-year-old girl patient, born from non-consanguineous healthy parents, with two episodes of cardiorespiratory arrest after respiratory viral illness with progressive decreased activity and lethargy, at the age of 2 and 3 years.