Tuberous Sclerosis

Station Instructions: Assess this 50 year old gentleman presenting with a rash and a history of seizures.

1. Key History‑Taking Points

Neurological History

• Seizures:

  • Type (focal seizures, drug-resistant?)

  • Age of onset

• Development:

  • Any delays in walking, speech, or learning?

  • School performance

  • Behavioural concerns (autism, aggression, ADHD)

Systems Review

• Skin:

  • Facial spots? (angiofibromas)

  • White or hypopigmented patches? (ash-leaf spots)

  • Nail or oral lumps? (periungual fibroma, intraoral fibromata)

• Kidneys:

  • Blood in urine?

  • Flank pain?

  • Ankle swelling? (renal failure)

• Respiratory:

  • Breathlessness, previous hospital admissions with SOB? (recurrent pneumothorax)

• Cardiology:

  • Palpitations, fainting? (arrhythmia rhabdomyoma)

  • Known murmur in childhood?

Family History

• Any relatives with:

  • Seizures or epilepsy

  • Learning disabilities or autism

  • Facial skin lesions or known diagnosis of tuberous sclerosis

• Any genetic testing or counselling done?

2. Key Examination Findings

• Skin:

  • Hypomelanotic macules (“ash-leaf spots”) fluoresce on Wood’s lamp (~ 90%)

  • Facial angiofibromas (butterfly nose/cheeks), shagreen patch, ungual fibromas.

• Cardiac: murmur or arrhythmia suggestive of rhabdomyomas

• Abdominal: palpable or BP‑related signs of renal angiomyolipoma, AV fistula or scars from dialysis

• Respiratory: signs of lymphangioleiomyomatosis (shortness of breath, pneumothorax)

• Neurological Examination: Focal neurological deficit

3. Specific Investigations

Initial if suspect TSC:

• Brain MRI: look for brain haemartomas, cortical dysplasia, subependymal nodules (SEN), Subependymal Giant Cell Astrocytoma (SEGA)

• Echocardiogram + ECG: for cardiac rhabdomyoma/arrhythmia

• Skin exam under Wood’s lamp: ash-leaf spots fluoresce

• Abdominal and Renal Ultrasound with renal function tests: for angiomyolipomas, polycystic kidney disease

• Pulmonary: high-resolution CT and pulmonary function tests for lymphangioleiomyomatosis 

• Ophthalmology: dilated fundoscopy for retinal hamartomas or achromic patches

• Genetic testing if not performed (TSC1/TSC2 mutation testing)

Surveillance ongoing:

• Brain MRI every 1–3 years until 25 years if no Subependymal Giant Cell Astrocytoma (SEGA)

• Annual Tuberous Sclerosis Assosciated Neuropsychiatric Disorders (TAND) screening and EEG as clinically indicated

• Renal imaging every 1–3  years plus annual renal function tests

• Chest HRCT every 5–10 years in adult women, more often if LAM detected

• Epilepsy: Infantile spasms – first-line vigabatrin; consider ACTH or steroids second-line. Drug‑resistant seizures: specialist neurologist referral, epilepsy surgery or ketogenic diet as appropriate.

• SEGA: Monitor with MRI; surgical resection or mTOR inhibitor (everolimus) if large, growing or symptomatic.

• Angiomyolipoma: mTOR inhibitors for lesions > 3 cm or bleeding; embolisation if bleeding; avoid nephrectomy if possible.

• Pulmonary LAM (adult females): mTOR inhibitors; manage pneumothorax or lung transplant in advanced cases.

• Skin lesions: Dermatology referral for topical/oral mTOR inhibitors, laser therapy, dermabrasion

• Psychological/Behavioural: Multidisciplinary support – developmental pediatrics, psychiatry, psychology, behavioural therapy

• Genetic counselling for patients and family members

Tuberous Sclerosis Cheat Sheet