Table 2 Screening for major NF1 complications
From: Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966
Sought Complications | Affected patients | Screening modality | |
|---|---|---|---|
Dermatological manifestations | Subcutaneous, internal, and plexiform NF: malignant transformation? Esthetic or functional problems? | Children, adults | Clinical 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) | Children | Physical examination If JXG present: palpation of ganglionic areas and complete blood count | |
Orthopedic manifestations | Bone dysplasia and pseudarthrosis of the long bones, fractures | Children, adults | Clinical examination: search for gibbosity, bone deformity. X-ray if abnormalities found on clinical examination |
Scoliosis | Children, adults | Physical 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, osteoporosis | Children, adults | Consider bone densitometry scans based on clinical examination, vitamin D levels and X-ray results | |
Endocrinological manifestations | Pubertal and growth disorders | Children | Follow pubertal development and the growth curve, measure head circumference. |
Cardiac and vascular manifestations | Essential and secondary hypertension | Children, adults | Physical 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 abnormalities | Children, adults | Clinical examination | |
Hemorrhagic manifestations | Children, adults | Assess hemostasis before any surgical, dental or obstetric procedure. | |
Pain, psychological repercussions, quality of life | Children, adults | Clinical examination Offer psychological counseling, pain specialist referral | |
Otolaryngologic manifestations | Deafness, neurinoma, phonatory disorder, laryngeal NF | Children, adults | Otolaryngologic examination with tuning fork |
Neurological manifestations | OPG | Children | Interview: 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, headache | Children, adults | Neurological examination Cerebral MRI and electroencephalogram guided by the abnormalities detected on clinical examination | |
Developmental delay, learning difficulties, behavioral problems | Children | Evaluation 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 | Adults | Clinical examination | |
Cancers | MPNST (60% of cancers in NF1 patients) | Children, adults | Clinical 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 cancers | Children, adults | Clinical 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) | |