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

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

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

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

Forme Fruste of TSC Schuster 1913 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

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

Progress since 1987

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

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

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

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

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

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

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

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

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.

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

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

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

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