RESUMO
Background: 22q11.2 microdeletion is the most common microdeletion syndrome in humans with a prevalence of 13 per 100 000 live births, and it is a multisystem condition with variable phenotypic presentations. Methods: We present a case of an adult patient with Dandy-Walker syndrome who presented to our epilepsy clinic with 2 years of new-onset seizures and cognitive decline and 1 year of psychotic symptoms. Results: Patient had a non-revealing autoimmune and malignancy work-up. Continuous scalp vEEG study showed bursts of 1-2 Hz generalized fronto-centrally predominant spike or polyspike and slow wave discharges. Several myoclonic jerks were time-locked with the generalized discharges indicative of cortical myoclonus. MRI brain revealed periventricular nodular heterotopia in addition to findings suggestive of Dandy-Walker syndrome. Array-based comparative genomic hybridization demonstrated a 22q11.2 microdeletion seen in 22q11.2 deletion syndrome. Conclusion: Our case illustrates the challenges of diagnosing genetic disorders in adults especially when the initial diagnosis is dependent on a number of factors, including the patient's age, the severity of the phenotypic features, and the awareness of the physician.
RESUMO
OBJECTIVE: We aimed to compare outcomes including seizure-free status at the last follow-up in adult patients with medically refractory focal epilepsy identified as lesional vs. non-lesional based on their magnetic resonance imaging (MRI) findings who underwent invasive evaluation followed by subsequent resection or thermal ablation (LiTT). METHODS: We identified 88 adult patients who underwent intracranial monitoring between 2014 and 2021. Of those, 40 received resection or LiTT, and they were dichotomized based on MRI findings, as lesional (N = 28) and non-lesional (N = 12). Patient demographics, seizure characteristics, non-invasive interventions, intracranial monitoring, and surgical variables were compared between the groups. Postsurgical seizure outcome at the last follow-up was rated according to the Engel classification, and postoperative seizure freedom was determined by Kaplan-Meyer survival analysis. Statistical analyses employed Fisher's exact test to compare categorical variables, while a t-test was used for continuous variables. RESULTS: There were no differences in baseline characteristics between groups except for more often noted PET abnormality in the lesional group (p = 0.0003). 64% of the lesional group and 57% of the non-lesional group received surgical resection or LiTT (p = 0.78). At the last follow-up, 78.5% of the patients with lesional MRI findings achieved Engel I outcomes compared to 66.7% of non-lesional patients (p = 0.45). Kaplan-Meier curves did not show a significant difference in seizure-free duration between both groups after surgical intervention (p = 0.49). SIGNIFICANCE: In our sample, the absence of lesion on brain MRI was not associated with worse seizure outcomes in adult patients who underwent invasive intracranial monitoring followed by resection or thermal ablation.
Assuntos
Imageamento por Ressonância Magnética , Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Resultado do Tratamento , Epilepsia Resistente a Medicamentos/cirurgia , Epilepsia Resistente a Medicamentos/diagnóstico por imagem , Procedimentos Neurocirúrgicos/métodos , Estudos Retrospectivos , Adulto Jovem , Epilepsias Parciais/cirurgia , Epilepsias Parciais/diagnóstico por imagem , SeguimentosRESUMO
Rhythmic midtemporal discharge (RMTD) is one of the benign epileptiform variants, typically consisting of runs of 4-Hz to 7-Hz activity, lasting up to 10 seconds and maximal over the midtemporal area. We report a child who, during an admission for diagnostic closed-circuit television (CCTV) and electroencephalographic (EEG) monitoring, was found to have prolonged rhythmic monomorphic discharges, alternating over both midtemporal areas, with one of the discharges lasting up to 82 minutes. An analysis of the dominant frequency, during the longest discharge, showed that it was monomorphic throughout. On the basis of various features of these discharges, we concluded that they represented RMTD of unusual duration.