Synopsis
Differentiate neurofibromatosis type 1, NF2-related schwannomatosis and tuberous sclerosis complex, recognise neurological, visual, renal and tumour emergencies, and coordinate lifelong syndrome-specific surveillance and targeted care.
- NF1 is diagnosed from age-dependent combinations of pigmentary, ocular, bony, tumour, genetic and family criteria; one café-au-lait macule is not diagnostic.
- Regular clinical visual assessment is more useful than routine screening brain MRI for an asymptomatic young child with NF1; image when visual, neurological or endocrine findings create concern.
- NF2-related schwannomatosis should be considered with bilateral vestibular schwannoma, multiple meningiomas, ependymoma, cataract or characteristic nerve tumours, particularly at a young age.
- Tuberous sclerosis diagnosis integrates major and minor features such as multiple hypomelanotic macules, angiofibromas, cortical tubers, subependymal nodules, renal angiomyolipomas and cardiac rhabdomyomas.
- For asymptomatic TSC, obtain brain MRI every one to three years until age twenty-five and renal imaging every one to three years lifelong, shortening intervals when lesions or symptoms warrant.
- Measure blood pressure and estimated GFR and screen TSC-associated neuropsychiatric disorders at least annually, alongside age-appropriate skin, eye, cardiac, dental and lung assessment.
- In an asymptomatic infant with TSC, the 2021 consensus advises EEG about every six weeks to twelve months and every three months from twelve to twenty-four months, with urgent testing for suspicious events.
- New persistent pain or rapid growth in an NF1 lesion, visual deterioration, pressure symptoms, renal bleeding or infantile spasms requires urgent syndrome-aware escalation.
- Confirm the molecular diagnosis when it changes family testing or classification, while recognising that blood testing may miss mosaic disease and cannot predict severity precisely.
Key red flags
Persistent pain, rapid enlargement, hardening or new weakness around an NF1 plexiform neurofibroma raises concern for malignant peripheral nerve sheath tumour and needs urgent specialist imaging.
New visual loss, proptosis, squint, abnormal colour vision or early puberty in a child with NF1 may indicate a clinically significant optic pathway or hypothalamic lesion.
Clusters of infantile spasms, developmental plateau or regression in a baby with tuberous sclerosis require urgent EEG-linked specialist treatment.
Headache, vomiting, somnolence, papilloedema or focal deficit in tuberous sclerosis can reflect obstructive hydrocephalus from a subependymal giant cell astrocytoma.
Flank pain, haematuria, falling haemoglobin or shock in tuberous sclerosis can indicate bleeding from a renal angiomyolipoma and requires emergency renal imaging and stabilisation.
Severe headache, neurological deficit or marked hypertension in NF1 warrants urgent assessment for vascular disease, renal artery stenosis, phaeochromocytoma or intracranial pathology.
Investigation priorities
Integrate age-dependent skin, eye, tumour, bone and organ features reproducibly.
Management branches
Pigmentary, tumour, seizure, cardiac or renal features suggest a neurocutaneous disorder.
- Document skin findings, development, neurology, vision, hearing, blood pressure and a three-generation pedigree.
- Apply current syndrome criteria and arrange mechanism-appropriate genomic testing through specialist services.
- Complete baseline organ assessment without indiscriminate imaging that lacks a syndrome-specific purpose.