In Station 5 you may be asked to assess a patient with a rash, headaches, seizures etc.
History (3 minutes):
- Timing questions (since when, sudden/gradual, intermittent/constant, progression, previous episodes)
- Rash
- Headaches
- Seizures
- Weakness, numbness, unsteadiness, tremor, hearing, vision, speech, swallow
- BP, kidney problems eg. abdo pain, blood in urine
- How old were you when you left school, how did you do in exams, did you go on to university
- CVS and Resp systems review questions
- PMH
- Fx of similar problems
- Dx
- Sx
Examine (3 minutes):
- Hands: periungal fibromata
- Arms: AV fistula, BP
- Neck: scars from dialysis
- Face: papular salmon-coloured eruption in butterfly pattern over the cheeks/chin/forehead especially in the nasolabial folds (adenoma sebaceum: facial angiofibromas)
- Mouth: intraoral fibromata, hypertrophic gums (phenytoin/ciclosporin use), dentition
- Chest and back: leathery thickened skin-coloured patches/plaques on the lower back (Shagreen’s patches), hypopigmented macules in oval/ashleaf configuration on trunk and buttocks (ask to look with Woods lamp as the depigmented macule will fluoresce), café au lait macules
- CVS (CCF from cardiac rhabdomyomata), Resp (pneumothorax, cor pulmonale, cystic lung disease), Abdo (polycystic kidneys angiomyolipomas, peritoneal dialysis, transplant kidney, nephrectomy)
- Eyes – fundoscopy for retinal hamartomata which are yellow/grey/white (phakomata)
- Quick Neuro assessment
ICE+Explanation (2 minutes)
VIVA
Tuberous Sclerosis complex is inherited in an AD fashion but there are many sporadic cases (only a minority of patients have a known family history of TSC). It is due to defect in chromosome 9 TSC1 gene (hamartin) and chromosome 16 TSC2 (tuberin)
The TSC2 gene lies next to the ADPKD 1 gene on chromosome 16 hence the development of renal cystic disease
It is a phakomatosis/neurocutaneous syndrome resulting in hamartomas of the skin, brain, kidneys, retina, heart, lungs, liver and bone.
Most patients have epilepsy. 50% have cognitive deficits and learning disabilities.
Occurs in 1 in 5-10000
Diagnosis is based on genetic testing and clinical criteria.
Differential Diagnosis: Neurofibromatosis type 1, von hippel landau disease
Investigations:
FBC, U+E
ECG, Echo
BP, Urine dipstick, renal USS
Oxygen sats, CXR, spirometry, CT thorax
MRI or CT brain: calcified hamartomata/tubers
EEG
Genetic testing
Management:
Multidisciplinary: neurologist, epilepsy specialist nurse, GP, geneticist, nephrologist
Advice about epilepsy and safety eg. driving
Medical: treat epilepsy, renal disease
Surgical: renal transplant, laser surgery of adenoma sebaceum for cosmesis but they recur.
Written by Dr Sarah Kennedy
Resources used to write this document include those listed in the resources section of this webpage and also:
https://www.uptodate.com/contents/tuberous-sclerosis-complex-genetics-clinical-features-and-diagnosis?source=search_result&search=tuberous%20sclerosis&selectedTitle=1~101#H314610607