Table 4.

Recommended Evaluations Following Initial Diagnosis

System/ConcernEvaluationComment
Eyes Ophthalmologic eval
ENT Hearing assessment
Cardiovascular Cardiac eval w/EKG & echocardiographyConsider referral to cardiologist if results are abnormal.
Gastrointestinal Nutritional eval; swallowing assessment for feeding difficulties
Eval of liver function w/AST/ALT, bilirubin, total protein, albumin, & coagulation profile
Neurologic
  • Neurology consultation incl comprehensive neurologic exam
  • Brain MRI to evaluate extent of disease
ElectroencephalogramIf history of seizures
Immunologic Complete blood count to evaluate for neutropeniaConsider more detailed immunologic eval if history of recurrent infections.
Miscellaneous/
Other 		Developmental eval to provide baseline level of functioning & recommendations for services (speech, occupational, & physical therapy)
Consultation w/clinical geneticist &/or genetic counselor

From: FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome

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