Metabolic stroke in childhood: Diagnostic approach and suggestions for therapy

The central nervous system is particularly vulnerable to certain metabolic abnormalities that may result in energy failure and subsequent neuronal cell death with clinical presentation as strokelike episodes. The mitochondrion and its electron transport chain machinery provide the main source of ATP for neurons and the most frequent causes of metabolic stroke are associated with the disorders of mitochondria. Mitochondrial diseases are a heterogeneous group of conditions affecting different organs of the body with variable severity. Both inborn errors (e.g. organic acidurias) and mitochondrial cytopathies can lead to stroke by vascular or cytotoxic mechanisms, thereby making a differential diagnosis complicated when using standard clinical investigations or neuroimaging. This article will provide an overview of various metabolic strokes in childhood with a special emphasis on the most frequent mitochondrial diseases.