TABLE 6

“Red-Flag” Findings in Mitochondrial Disease

Organ SystemSelected Findings
NeurologicCerebral stroke-like lesions in nonvascular pattern
Basal ganglia disease
Encephalopathy
Neurodegeneration
Myoclonus
CardiovascularHypertrophic cardiomyopathy with rhythm disturbance
Unexplained heart block in child
Cardiomyopathy with lactic acidosis (>5 mM)
Dilated cardiomyopathy with muscle weakness
OphthalmologicRetinal degeneration with signs of night blindness, color-vision deficits, decreased visual acuity
Ophthalmoplegia/paresis
Fluctuating, disconjugate eye movements
Ptosis
GastrointestinalUnexplained or valproate-induced liver failure
Severe dysmotility
Pseudo-obstructive episodes
OtherUnexplained hypotonia, weakness, FTT, and a metabolic acidosis (particularly lactic acidosis) in newborn, infant, or young child
Hypersensitivity to general anesthesia
  • FTT indicates failure to thrive.

  • Adapted with permission from Haas RH, Parikh S, Falk MJ, et al. Pediatrics. 2007;120(6):1326 –1333.