The etiology of MT dysfunction for all 5 disorders remains unclear. The features of hypotonia, jerky movements, cognitive delay, and seizures found in AS suggests a defect in MT bioenergics. There has been a suspicion for years that Rett syndrome may be due to MT dysfunction and recent evidence suggests frataxin, the gene product associate with FA is an essential MT protein. The clinical features of Lesch-Nyhan, specifically developmental delay with progressive neurologic dysfunction, hypotonia, choreoathetosis, lactic acidosis, are also features seen in classic MT disorders. I activity in our patient is likely a secondary defect, but it brings into question if some of the clinical features of this disorder may be due to a deficiency in energy production localized to specific brain regions.
Clinical acumen remains critical in obtaining the proper diagnosis.
However, primary or secondary disorders of energy production may be more common than previously appreciated with a variety of well-characterized neurologic disorders.