Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with Neurofibromatosis 1

System/ConcernEvaluationComment
Integument Clinical assessment for skin findings of neurofibromas &/or plexiform neurofibromas
Eyes Ophthalmologic eval incl fundoscopy, slit lamp exam of the irides, infrared reflectance imaging or optical coherence tomography of the fundus, & vision assessment
Neurologic Neurologic exam; assessment for seizures, headaches, & painNote: Routine use of brain MRI in asymptomatic persons is controversial. 1
Development Developmental assessment
Psychiatric Neuropsychiatric assessment
Skeletal Clinical assessment for asymmetry, long bone dysplasia, sphenoid wing dysplasia, vertebral dysplasia &/or scoliosis, & recurrent fractures
Vascular Blood pressureEvaluate those w/hypertension for renovascular disease or midaortic syndrome, hydronephrosis or other structural renal anomalies, & pheochromocytoma or paraganglioneuroma [Sivasubramanian & Meyers 2021].
Cardiac History & clinical exam for signs/symptoms of congenital heart defects &/or cardiomyopathy
Growth Plot height, weight, & head circumference on age-appropriate charts.
Genetic
counseling 		By genetics professionals 2To inform affected persons & their families re nature, MOI, & implications of NF1 to facilitate medical & personal decision making

MOI = mode of inheritance

1.

Proponents state that brain MRI is useful to identify structural anomalies of the brain or skull, tumors, or vascular disease before it becomes clinically apparent. Those who oppose head MRI in asymptomatic individuals point to the uncertain clinical significance of unidentified bright objects (UBOs), increased cost, requirement for sedation in small children, and findings resulting in repeating imaging for reassurance.

2.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Neurofibromatosis 1

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