Audit of compliance with Tuberous Sclerosis guidelines in a paediatric cohort attending Cork University Hospital

Background: Tuberous sclerosis, an autosomal dominant condition occurring in 1 in 6000 live births, is caused by a mutation in either the TSC1 or TSC2 gene. It is characterized by the presence of hamartomas in the brain, heart, skin, kidneys or lungs. Disease related complications include developmental delay, epilepsy and behavioural difficulties. Management Guidelines were produced in 2012 by an International Consortium[i].

Methods: We undertook a retrospective chart review auditing compliance with international tuberous sclerosis recommendations.

Results: There were 11 patients attending the paediatric neurology service at time of this review, Four of eight patients tested had the TSC2 mutation, 1 had the TSC1 mutation. Nine patients had an EEG with seven patients requiring ongoing anti-epileptic treatment. Nine patients had an echocardiogram, three had cardiac rhabdomyomas. Two patients had a diagnosis of an Autism spectrum disorder. Eighty one per cent of patients had a MRI Brain within the last three years as per recommendations. Seven MRI brains showed features consistent with tuberous sclerosis such as subependymal nodules and white matter lesions. Two cases had SEGAs, one had been resected. Ten patients had renal ultrasounds within the last three years, two patients had bilateral angiomyolipomas and one patient had polycystic kidney disease. No patient was documented as having attended a dentist within the previous year. One patient had attended an ophthalmologist.

Discussion: Our centre showed good complicance with imaging and genetic recommendations however poor compliance with cardiac, ophthalmological and dental follow up recommendations. This may be related to availability of resources within our hospital. Formal structured follow up is required to ensure optimal care of these patients.