RESUMO
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant condition associated with epilepsy, benign tumors, and variable neurodevelopmental outcomes. The diagnosis is most commonly made after epilepsy onset, although a proportion are diagnosed prenatally. Presymptomatic or early treatment with agents such as vigabatrin offers the hope of improved neurodevelopmental outcome. Therefore early diagnosis, before the onset of seizures, is important. In a cohort of children with TSC, we evaluated the age and mode of initial presentation, assessed the neurocognitive and epilepsy outcome, and analyzed whether those diagnosed before the onset of seizures have a different outcome compared with those diagnosed postseizures. METHODS: We reviewed patients at the TSC clinic at Sydney Children's Hospital who were born between 2001 and 2015. RESULTS: A total of 74 patients were identified: 34 (46%) diagnosed preseizure (21 prenatally) and 40 (54%) postseizure. In the preseizure cohort, 77% presented with cardiac rhabdomyoma(s) and 72% developed seizures. The postseizure cohort had more severe epilepsy, requiring more antiepileptic drugs for seizure control (median five, compared with three in the preseizure cohort [P = 0.01]). Developmental disability occurred in 65% of the preseizure cohort compared with 72% of the postseizure cohort. Severe developmental disability most often occurred in children who had their first seizure before age 12 months. CONCLUSION: Children who are diagnosed with TSC before the onset of seizures have less severe epilepsy and better developmental outcome.
Assuntos
Transtornos do Neurodesenvolvimento/etiologia , Esclerose Tuberosa/complicações , Esclerose Tuberosa/diagnóstico , Adolescente , Idade de Início , Criança , Pré-Escolar , Estudos de Coortes , Diagnóstico Precoce , Epilepsia/etiologia , Feminino , Humanos , Lactente , Masculino , Mutação/genética , Transtornos do Neurodesenvolvimento/diagnóstico , Esclerose Tuberosa/genética , Proteína 2 do Complexo Esclerose Tuberosa , Proteínas Supressoras de Tumor/genéticaRESUMO
Diffuse panbronchiolitis (DPB) is an idiopathic inflammatory disease which is predominantly recognised in the Japanese population with only isolated case reports in Western populations. This is the first reported case of DPB in a Samoan man with typical radiological and histopathological features. He had an excellent response to long-term erythromycin and this case highlights the importance of recognising this rare disease.
