Infant with infantile spasms: early intervention improves neurodevelopmental outcome
Keywords:Tuberous sclerosis, Ash leaf macules, Hypsarrhythmia, Infantile spasms, Vigabatrin, Neurodevelopmental outcome
Tuberous sclerosis complex is a multisystem genetic disorder with characteristic skin lesions and variable neurological manifestations like seizures, cognitive impairment and autistic spectrum disorder. Epilepsy and infantile spasms during first year of life are risk factors for mental impairment and Autistic spectrum disorder (ASD). In asymptomatic TSC infants, hypsarrhythmia pattern in EEG suggests early treatment with vigabatrin to improve neurodevelopmental outcome. Early recognition of skin lesions by pediatrician is crucial for timely intervention.
Sahin M, Kliegmn RM. Nelson Textbook Of Paediatrics. 20th ed. Netherland: Elsevier; 2015: 2878.
Webb DW, Clarke A, Fryer A, Osborne JP. The cutaneous features of tuberous sclerosis: a population study. Br J Dermatol. 1996;135(1):1-5.
Cardis MA, Klotz CMC. Cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role. Arch Dis Child. 2017;102(9):858-63.
Harrison JE, Callaghan FJ, Hancock E, Osborne JP, Bolton PF. Cognitive deficits in normally intelligent patients with tuberous sclerosis. Am J Med Genet. 1999;88(6):642-6.
Siddaraju ML, Reddy KT, Bandari AK. A case of tuberous sclerosis - presenting as febrile seizures with status epilepticus. Int J Contemp Pediatr. 2016;3(1):281-4.
Hancock E, Osborne JP. Vigabatrin in the treatment of infantile spasms in tuberous sclerosis: literature review. J Child Neurol. 1999; (2):71-4.
Saffari A, Brösse I, Kruel A, Wilken B, Kreuzaler P, Hahn A, et al. Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study. Orphanet J Rare Dis. 2019;14(1):96.
Fryer AE, Chalmers A, Connor JM, Fraser I, Povey S, Yates AD, et al. Evidence that the gene for tuberous sclerosis is on chromosome 9. Lancet. 1987;1(8534):659-61.