Table 7.

Mitochondrial DNA-Associated Leigh Syndrome Spectrum: Recommended Surveillance

System/ConcernEvaluationFrequency
Neurologic Neurology assessment for ataxia/movement disorders, neuropathy, & seizuresAt each visit
Pulmonary Monitor for evidence of aspiration, nocturnal hypoventilation, or sleep-disordered breathing.
Feeding/Nutrition
  • Measurement of growth parameters
  • Eval of nutritional status (incl micronutrients) & safety of oral intake
Gastroenterology Assess for nausea, constipation, or dysmotility.
Development/
Cognition 		Monitor developmental progress, educational needs, & cognitive issues.At least annually
Musculoskeletal Physical medicine, OT/PT assessment of mobility, self-help skills
Ophthalmology Ophthalmologic evalEvery 6-12 mos or as advised by ophthalmologist
Cardiac
  • Blood pressure
  • EKG
  • Echocardiogram
Annually or as advised by cardiologist
Liver Liver function tests incl transaminases, albumin, bilirubin, & coagulation studiesAnnually
Renal
  • Urinalysis, urine albumin-to-creatinine ratio, urine amino acids
  • Serum electrolytes, BUN, creatinine
Hearing Audiologic eval
Hematology Complete blood count
Endocrine
  • Fasting glucose
  • Consider hemoglobin A1c or OGTT if clinical features consistent w/diabetes mellitus.
  • Consider early-morning cortisol & short synacthen test if clinical symptoms of adrenal insufficiency.
Family/Community Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).At each visit

BUN = blood urea nitrogen; OGTT = oral glucose tolerance test; OT = occupational therapy; PT = physical therapy

From: Mitochondrial DNA-Associated Leigh Syndrome Spectrum

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