RESUMO
PURPOSE: To characterize epileptic spasms (ES) occurring after the age of two years in patients with tuberous sclerosis complex (TSC), particularly treatment response to vigabatrin (VGB), which is extremely effective for infantile spasms (IS) in TSC. METHODS: The authors retrospectively reviewed 19 patients with TSC and ES. Medical records were assessed for clinical and treatment data, neurocognitive, EEG, MRI data, and genetic analyses. RESULTS: Of 391 patients with TSC, 19 (4.8%) had ES. Of those with detailed clinical data, six had infantile spasms that persisted after 2 years old, six recurred after an initial remission of infantile spasms (range 2-24 years old), and four occurred de novo over the age of two (range 2-20 years old). All concurrently had other seizure types. One had hypsarrhythmia on EEG. All had brain MRI stigmata typical of TSC. Thirteen had a mutation in TSC2, and one in TSC1. Six patients became spasm-free with medication treatment, including four with VGB, one with VGB in combination with the low glycemic index dietary treatment, and one with felbamate. Five became spasm-free after epilepsy surgery. VGB was not effective for seven patients. The majority continued to have refractory epilepsy. CONCLUSIONS: ES are not uncommon in patients with TSC, especially those with TSC2 mutations. ES in TSC occur in the setting of other seizure types and refractory epilepsy. Hypsarrhythmia is rare. VGB can be effective, but the success of VGB for ES in TSC is not equivalent to that of IS in TSC.
Assuntos
Epilepsia/etiologia , Espasmo/etiologia , Esclerose Tuberosa/complicações , Adolescente , Adulto , Idade de Início , Anticonvulsivantes/uso terapêutico , Transtorno Autístico/complicações , Criança , Pré-Escolar , Cognição/fisiologia , Coleta de Dados , Eletroencefalografia , Epilepsia/tratamento farmacológico , Epilepsia/genética , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Testes Neuropsicológicos , Prognóstico , Estudos Retrospectivos , Espasmo/tratamento farmacológico , Espasmo/genética , Espasmos Infantis/etiologia , Resultado do Tratamento , Esclerose Tuberosa/genética , Adulto JovemRESUMO
A 6-month-old infant with LIS1 17p13.3 deletion-positive Miller-Dieker syndrome (MDS) presented with increased seizures in the setting of a Pseudomonal and Enterococcal urinary tract infection and a buttock abscess associated with a lumbosacral dermal sinus tract. MRI of the neuraxis revealed lissencephaly (figure 1), a tethered cord without lipoma or other mass (figure 2A), and an infected lumbosacral dermal sinus tract. Communication with the spinal canal could not be appreciated (figure 2B). The dermal sinus was explored and found not to extend into the spinal canal. This tract was excised and the lateral abscess drained. Tethered cord release is planned upon resolution of infection.