Metabolic syndromes and neural crest development

Aim of this study is to investigate for the possible connection between abnormal neural crest cell (NCC) development and NCC-derived abnormal facial and cerebral structures in 3 children with pyruvate-dehydrogenase (PDH) and in 10 cases with oxidative phosphorylation deficiency diagnosed from the Author by standard laboratory assays (i.e. 3 cases of Kearns-Sayre syndrome (KSS), 2 cases of Leigh syndrome, I case of KSS with De Toni-Debre-Fariconi and rachitis (Berio disease), I case of KSS with aortic insuffiency and sub-aortic septum hyperthophy, 3 cases of chronic progressive external ophthalmoplegiaJ. These patients presented with hyperlactaddernia, hyperpyruvicemia and facial abnormalities, similar to those observed in the fetal alcohol syndrome (a typical neurocristopathy) due to PDH deficiency, down regulating NCC genes. The Author hypothesizes that the metabolic defect of scarce energy production is responsible of abnormal NCC proliferationhnigration and consequent facial abnormalities.