Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?
Tóm tắt
Từ khóa
Tài liệu tham khảo
Curatolo P, Maria BL. Tuberous sclerosis. In: Dulac O, Lassonde M, Sarnat HB, editors. Handbook of Clinical Neurology. Pediatric Neurology Part I, vol. Vol.111: Elsevier; 2013. p. 323–31.
Józwiak S, Schwartz RA, Janniger CK, et al. Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients. J Child Neurol. 2000;15(10):652–9.
Northrup H, Krueger DA and on behalf of the International tuberous sclerosis complex consensus group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 international tuberous sclerosis complex consensus conference, Pediatr Neurol 2013;49(4):243–254.
Curatolo P, Moavero R, de Vries PJ. Neurological and neuropsychiatric aspects of tuberous sclerosis complex. Lancet Neurol. 2015;14:733–45.
Chu-Shore CJ, Major P, Camposano S, et al. The natural history of epilepsy in tuberous sclerosis complex. Epilepsia. 2010;51(7):1236–41.
Saxena A, Sampson JR. Epilepsy in tuberous sclerosis: phenotypes, mechanisms, and treatments. Semin Neurol. 2015;35:269–76.
Wu JY, Peters JM, Goyal M, et al. Clinical electroencephalographic biomarker for impending epilepsy in asymptomatic tuberous sclerosis complex infants. Pediatr Neurol. 2016;54:29–34.
Cusmai R, Moavero R, Bombardieri R, et al. Long-term neurological outcome in children with early-onset epilepsy associated with tuberous sclerosis. Epilepsy Behav. 2011;22(4):735–9.
Jozwiak S, Kotulska K, Domanska-Pakiela D, et al. Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex Eur. J Pediatr Neurol. 2011;15:424–31.
Jozwiak S, Kotulska K. Prevention of Epileptogenesis - a new goal for epilepsy therapy. Pediatr Neurol. 2014;51:758–9.
Domanska-Pakiela D, Kaczorowska M, Jurkiewicz E, et al. EEG abnormalities preceding the epilepsy onset in tuberous sclerosis complex patients. A prospective study of 5 patients. Eur J Pediatr Neurol. 2014;18:458–68.
Whitney R, Jan S, Zak M, et al. The utility of surveillance electroencephalography to guide early antiepileptic drug therapy in infants with tuberous sclerosis complex. Pediatr Neurol. 2017;72:76–80.
Firkin AL, Marco DJT, Saya S, et al. Mind the gap: multiple events and lengthy delays before presentation with a “first seizure”. Epilepsia. 2015;56(10):1534–41.
Muzykewicz DA, Costello DJ, Halpern EF, et al. Infantile spasms in tuberous sclerosis complex: prognostic utility of EEG. Epilepsia. 2009;50(2):290–6.
Bolton PF, Clifford M, Tye C, et al. Intellectual abilities in tuberous sclerosis complex: risk factors and correlates from the tuberous sclerosis 2000 study. Psychol Med. 2015;45:2321–31.
Capal JK, Bernardino-Cuesta B, Horn PS, et al. Influence of seizures on early development in tuberous sclerosis complex. Epilepsy Behav. 2017;70:245–52.
Curatolo P, Jozwiak S, Nabbout R, et al. Management of epilepsy associated with tuberous sclerosis complex (TSC): clinical recommendations. Eur J Pediatr Neurol. 2012;16:582–6.
Long-term, prospective study evaluating clinical and molecular biomarkers of epileptogenesis in a genetic model of epilepsy – tuberous sclerosis complex. www.epistop.eu Accessed 16 August 2017.
Staley BA, Vail EA, Thiele EA. Tuberous sclerosis complex: diagnostic challenges, presenting symptoms, and commonly missed signs. Pediatrics. 2011;127(1):117–25.
Jozwiak S, Kotulska K, Kasprzyk-Obara J, et al. Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex. Pediatrics. 2006;118(4):1146–51.
Tworetzky W, McElhinney DB, Margossian R, et al. Association between cardiac tumors and tuberous sclerosis in the fetus and neonate. Am J Cardiol. 2003;92:487–9.
Bader RS, Chitayat D, Kelly E, et al. Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex. J Pediatr. 2003;143(5):620–4.
Mühler MR, Rake A, Schwabe M, et al. Value of fetal cerebral MRI in sonographically proven cardiac rhabdomyoma. Pediatr Radiol. 2007;37:467–74.
Khanna PC, Godinho S, Pungavkar SA, et al. Ultrafast MRI in prenatal diagnosis of Bourneville’s tuberous sclerosis. Neurol India. 2005;53(3):349–50.
Levine D, Barnes P, Korf B, et al. Tuberous sclerosis in the fetus: second-trimester diagnosis of subependymal tubers with ultrafast MR imaging. AJR Am J Roentgenol. 2010;175:1067–9.
Jurkiewicz E, Beksińska-Figatowska M, Romaniuk-Doroszewska A, et al. Brain MRI in fetuses with cardiac tumours. Neuroradiol J. 2007;20:494–9.
Vanderhooft SL, Francis JS, Pagon RA, et al. Prevalence of hypopigmented macules in a healthy population. J Pediatr. 1996;129(3):355–61.
Abdolrahimzadeh S, Plateroti AM, Recupero SM, et al. An update on the ophthalmologic features in the Phakomatoses. J Ophthalmol. 2016;2016:1–15.
Rowley SA, O’Callaghan FJ, Osborne JP. Ophthalmic manifestation of tuberous sclerosis: a population based study. Br J Ophthalmol. 2001;85:420–3.
Sampson JR, Maheshwar MM, Aspinwall R, et al. Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. Am J Hum Genet. 1997;61:843–51.
Tyburczy ME, Dies KA, Glass J, et al. Mosaic and Intronic mutations in TSC1/TSC2 explain the majority of TSC patients with no mutation identified by conventional testing. PLoS Genet. 2015;11(11):1.
Chung CWT, Lawson JA, Sarkozy V, et al. Early detection of tuberous sclerosis complex: an opportunity for improved neurodevelopmental outcome. Pediatr Neurol. 2017;76:20–6.