Growth Failure Evaluation in Neurofibromatosis Type 1

Optic pathway gliomas (OPGs) occur in approximately 20% of NF1 patients, presenting at median age 4-5 years, with 15-20% progressing and requiring intervention, according to the American Cancer Society guidelines 1, 2
Obtain ophthalmologic examination by pediatric ophthalmologist or neuro-ophthalmologist to assess for visual compromise, as recommended by the American Academy of Ophthalmology 1
If visual examination raises concerns, obtain brain MRI with orbits, as suggested by the American College of Radiology 1
Plexiform neurofibromas (PNs) occur in approximately 50% of NF1 patients, are likely congenital, and have faster growth in young children, according to the National Institute of Health guidelines 3, 2
Large PNs can cause compression symptoms, pain, and disfigurement affecting nutrition and mobility, as reported by the American Academy of Pediatrics 3

Diagnostic Evaluation

Perform clinical evaluation for scoliosis with Adam's forward bend test, as recommended by the American Academy of Orthopaedic Surgeons 5, 6
Obtain detailed history focusing on oropharyngeal dysphagia symptoms and perform nutritional assessment, as suggested by the American Gastroenterological Association 4
Consider checking serum vitamin D concentrations and supplementation in context of clinical presentation, according to the Endocrine Society guidelines 5, 6

Refer to specialized NF1 clinic for multidisciplinary management including medical genetics, endocrinology, neurology, and oncology, as recommended by the National Institute of Health 7