Table 1.
Proceudres | Examinations |
---|---|
3T MRI/MR spectroscopy of the brain (spine if indicated) | Ophthalmologic exam |
Skin biopsy | Dental exam |
Brainstem auditory evoked response | Dysmorphology measurements and other portions of the physical exam that are difficult to perform in an uncooperative awake child |
Lumbar puncture for neurotransmitters, inflammatory markers, folate, biopterin and neopterin | |
Bladder catheterization for urine specimen | |
Large blood draws | |
Electromyogram and nerve conduction studies (while emerging from anesthesia) |
Modified from [3▪▪], Table 83-2.