Table 7.

Recommended Surveillance for Individuals with Zellweger Spectrum Disorder

System/ConcernEvaluationFrequency
Feeding
  • Measurement of growth parameters
  • Eval of nutritional status & safety of oral intake
At each visit
Hearing Audiology evalAnnually
Eyes
  • Ophthalmologic eval
  • Visual field testing
Hepatic
  • Coagulation factors & other synthetic liver functions (PT, PTT, AST, ALT, total & direct bilirubin)
  • Ultrasound &/or fibroscan to evaluate liver architecture
Annually; persons w/overt hepatic dysfunction require more frequent monitoring.
Neurologic Monitor those w/seizures as clinically indicated.At each visit
Head MRI to evaluate for white matter changes that may explain changes in cognitive &/or motor abilityAs needed
Development Monitor developmental progress & educational needs.At each visit
Endocrine Assess adrenal function (ACTH & cortisol).By age 1 yr; annually thereafter
Dental Dental examEvery 6 mos after dental eruption
Renal stones
  • Urine oxalate-to-creatinine ratio
  • Consider renal imaging when performing liver imaging.
Annually
Miscellaneous/
Other 		Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.At each visit

From: Zellweger Spectrum Disorder

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