Mitochondrial disease and cyclic vomiting syndrome

Mutations of mitochondrial DNA are being increasingly recognized as a cause of human disease. Six unrelated children have been evaluated with cyclic v omiting syndrome and a strong maternal family history suggesting a mitochon drial DNA mutation. Manifestations suggestive of migraine were present in e ach child. Additional clinical findings present in all cases include: devel opmental delay (3/6 cases), seizures (3/6), and poor growth (3/6). The age of onset for Vomiting episodes was less than or equal to 1 year in five cas es. An elevated body fluid lactate (lactic acid) was found in 5/6 cases. A mitochondrial DNA mutation was confirmed in one child with the finding of a large rearrangement. These cases suggest that mitochondrial DNA mutations can cause cyclic vomiting syndrome. Mitochondrial disease should be conside red in cases of cyclic vomiting, especially those with additional pathology or possible maternal inheritance. Initial screening should include plasma lactate and urine organic acids obtained during an episode.