1. Current Challenges in care of patients with Tuberous Sclerosis Complex
C.W. Shepherd

2. Plan Review significant developments in care since 1987.
Examine the role of the TSC clinic. What are its strengths.
What are the current challenges? Local, national and areas of research

3. Brief history of Tuberous Sclerosis Complex
1862 Von Recklinghausen described a baby who died od multiple heart tumors and had ‘a great number of scleroses ‘ in the brain
1880 Bourneville described brains off 3 people with severe learning difficulties, saying they had ‘tuberous sclerosis of the cerebral convolutions ’ as the lesions resembled tubers.
He described the facial lesions, but did not realise the significance.
Later described by Pringle in 1890

4. Vogt’s triad (1908) Seizures Mental Retardation
Adenoma Sebaceum (angiofibromata)

5. Forme Fruste of TSC
Schuster described a man with adenoma sebaceum, seizures but no mental retardation
Earl and Critchley 1932, documented 33 patients in a residental area.
One had no MR
Examined relatives and found evidence of TSC in some of them

6. Gomez Criteria for diagnosis
M R Gomez proposed primary and secondary diagnostic criteria
Diagnosis of TSC always was problematic

7. Progress since 1987

8. Diagnosis of TSC Location of TSC gene in Chromosomes 9 and 16
TSC 1- Chromosome 9
TSC 2- Chromosome 16

9. TSC Clinics Encouraged by the TSA
First one in NI in 1997 in Craigavon Hospital

10. Radiology MRI scans- less radiation, identifies tubers.
Need an anaesthetic
CT better at calcification

11. Epilepsy Better drugs in controlling epilepsy
Use of Vigabatrin in infantile spasms

12. Renal Disease
Mortality study, renal disease was a significant cause of mortality.
Better identification of individuals with renal disease, using USS, CT scan and MRI scan.
Earlier intervention for complications before severe symptoms occur

13. Brain Tumours Mortality study- significant cause of mortality
Better identification of Tumors using CT or MRI scan.
Better awareness of symptoms associated with tumors

14. Challenging Behaviours
Better understanding of behaviours.
Does better control of epilepsy help-frontal lobe seizures
Still needs a lot of work

15. Skin disease Angiofibroma- laser treatment, sirolimus cream
Periungual fibromata- surgery

16. N.I. TSC Clinic Relatively small number of patients
Get referrals from a number of different specialities
Able to record patients on a data base. Can use it for clinical care
Video discussions of patients with St George’s TSC clinic.
Focus for use of Everolimus in renal disease, SEGA and epilepsy.

17. N.I. TSC Clinic
Essential we keep up to date with research and developments
Dedicated radiology to measure renal AML and SEGA (CF Exist trial)
Psychology support (CF Exist trial)
Maximum use of everolimus
Patient and Parental input

18. Challenges Understand the different phenotypes of TSC
Understand the difference between TSC1 and TSC2
Understand the natural history, especially in SEGA
Understand relationship of epilepsy and learning difficulties
Improvement in the Quality of life

19. Challenges
Wider use of everolimus Better understanding of challenging behaviours and development of strategies Assisted fertility – 3rd parent

20. THANKS ALL PATIENTS AND PARENTS TSA –bale out for USA Many Gomez
Prof Nevin
Hilda, Tara, Rachael, Claire
Patrick, Deirdre, Shane