Skip to main content

Table 2 Screening for major NF1 complications

From: Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966

Sought ComplicationsAffected patientsScreening modality
Dermatological manifestationsSubcutaneous, internal, and plexiform NF: malignant transformation?
Esthetic or functional problems?
Children, adultsClinical examination:
Pain, neurological deficit, increase in size, functional and psychological repercussions
Additional examinations: optional
Indications: suspicion of malignancy, preoperative, internal NF risk factor
Juvenile xanthogranuloma (JXG)ChildrenPhysical examination
If JXG present: palpation of ganglionic areas and complete blood count
Orthopedic manifestationsBone dysplasia and pseudarthrosis of the long bones, fracturesChildren, adultsClinical examination: search for gibbosity, bone deformity.
X-ray if abnormalities found on clinical examination
ScoliosisChildren, adultsPhysical examination
Additional examinations (optional):
Front and profile X-ray views of the spine if clinical abnormalities found (1st line)
MRI should be reserved for forms with vertebral and/or costal dysplasia (expert consensus)
Pulmonary function tests to evaluate the impact of severe scoliosis
Bone mineralization disorder, osteoporosisChildren, adultsConsider bone densitometry scans based on clinical examination, vitamin D levels and X-ray results
Endocrinological manifestationsPubertal and growth disordersChildrenFollow pubertal development and the growth curve, measure head circumference.
Cardiac and vascular manifestationsEssential and secondary hypertensionChildren, adultsPhysical examination:
Blood pressure measurement at each consultation (at least annually), discuss the possibility of ambulatory measurement
Look for signs suggestive of pheochromocytoma
Additional examinations if high blood pressure.
As a first-line examination: angio-CT scan of the renal arteries and abdominal CT
Plasma and/or urinary determination of metanephrines in adults.
Cardiac abnormalitiesChildren, adultsClinical examination
Hemorrhagic manifestationsChildren, adultsAssess hemostasis before any surgical, dental or obstetric procedure.
Pain, psychological repercussions, quality of lifeChildren, adultsClinical examination
Offer psychological counseling, pain specialist referral
Otolaryngologic manifestationsDeafness, neurinoma, phonatory disorder, laryngeal NFChildren, adultsOtolaryngologic examination with tuning fork
Neurological manifestationsOPGChildrenInterview: repeated falls leading to suspicion of decrease visual acuity or visual field amputation
Neurological and ocular examination: strabismus, nystagmus, low visual acuity, neurological deficit, signs of intracranial hypertension. Early puberty, deviation from the growth curve, measurement of head circumference
Ophthalmological screening at least once per year until the age of 13 years and then if signs appear
MRI of the optic and cerebral pathways is not systematic and should be done only if suspicion of OPG
Epilepsy, hydrocephalus, intracranial hypertension, stroke, headacheChildren, adultsNeurological examination
Cerebral MRI and electroencephalogram guided by the abnormalities detected on clinical examination
Developmental delay, learning difficulties, behavioral problemsChildrenEvaluation of psychomotor development and academic proficiency at each consultation
Search for learning difficulties
Comprehensive neuropsychomotor assessment before entering elementary school, support for school integration
Medullary and nerve compression, peripheral neuropathy,
Socio-professional integration
AdultsClinical examination
CancersMPNST (60% of cancers in NF1 patients)Children, adultsClinical examination: recent increase in size of plexiform NF, appearance of pain.
Additional examinations if signs appear
If high NF-1 score: screening for internal neurofibromas by imaging (preferably by MRI).
All other cancersChildren, adultsClinical examination: asthenia, high blood pressure, intracranial hypertension symptoms, abdominal mass, bladder signs, appearance of mass, compressive syndrome …
Screening identical to that of the general population except for earlier breast screening (>  40 years)