1 - Serviço de Neurologia Pediátrica, Área da Mulher, Criança e Adolescente; Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, EPE, Lisboa; 3Neuroradiology Department, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, EPE;
2 - Especialidade de Genética Médica; Área da Mulher, Criança e Adolescente; Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, EPE, Lisboa
3 - Serviço de Imagiologia, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, EPE, Lisboa
4 - Pediatria, Área da Mulher, Criança e Adolescente; Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, EPE, Lisboa
- Excellence in Pediatrics, 8 a 10 de dezembro de 2016, Londres (poster)
Resumo:
Introduction: Tuberous sclerosis (TS) is a rare autosomal dominant progressive neurocutaneous syndrome characterized by the development of multiple hamartomas in different organs. It is caused by a mutation in either tumor suppressor genes TSC1 (located on chromosome 9q34, codes for protein hamartin) and TSC2 (located on chromosome 16p13.3, codes for protein tuberin). As a multisystemic disease, morbidity and treatment burden especially for neurological manifestations are significant.
Purpose: Characterization of all TS patients followed-up in a Portuguese pediatric tertiary center.
Methods: We retrospectively reviewed the records of all children with TS presently followed-up at our hospital and collected data on demographic, genetic and diagnostic characteristics. Number of subspecialty clinics frequented by each child was recorded. Neurological examination, EEG and MRI results were obtained. Epileptic status and treatment were assessed.
Results: Twenty-one patients are presently followed-up, 16 are male (76%), median age of 14. Prenatal diagnosis was possible in 6 patients (29%). Most common clinical features at diagnosis were hypomelanotic macules (100%), angiofibromas (62%) and angiomyolipomas (52%). Of the 18 patients who have had renal ultrasound, 61% have multiple renal cysts. Nineteen patients (90%) have epilepsy, 17 (81%) cognitive deficiency and 14 (67%) behavioural problems, in most cases ADHD. Brain MRI was performed in all patients and the most frequent changes are subependymal nodules (100%) and cortical dysplasia (76%). Eleven patients (52%) have at least one relative with TS, namely one of the parents in 91% of cases. Genetic study was performed in 10 patients (8 with a TSC2 mutation and 2 with a TSC1 mutation). These patients are followed-up on average on 5 different subspecialty clinics (min 1 – max 10), most commonly Neurology, Cardiology, Ophthalmology and Dermatology. At least 8 have appointments on other hospitals.
Conclusions: Our patients present several disease comorbidities and are followed-up by multiple subspecialties. The creation of a multidisciplinary clinic was found to be of paramount importance in order to articulate care and supply better quality of life for patients and their families. With the collaboration of all the different subspecialties it is possible to establish a protocol based follow-up and treatment plan, which will reduce hospital visits while addressing the patients’ needs.
Palavras Chave: Tuberous Sclerosis, multidisciplinar management, pediatric tertiary center