Objective We reviewed our experience of surgery for epileptic spasms (ES) with or without history of infantile spasms. Methods Data were reviewed from 65 (33 males) ES patients who underwent surgery between 1993–2014; palliative cases were excluded. Results Mean age at surgery was 5.1 (range: 0.2–19) years, with mean post-surgical follow-up of 45.3 (6–120) months. Mean number of anticonvulsants used pre-operatively was 4.2 (2–8) which decreased to 1.2 (0–4) post-operatively (p<0.0001). Total hemispherectomy was the most commonly performed surgery (n=20), followed by subtotal hemispherectomy (n=17), multilobar resection (n=13), lobectomy (n=7), tuberectomy (n=6) and lobectomy+tuberectomy (n=2), with ILAE class-I outcome in 20, 10, 7, 6, 3 and 0 patients, respectively (total=46/65 (71%); 22 off medication). Shorter duration of epilepsy (p=0.022) and presence of MRI lesion (p=0.026) were independently associated with class-I outcome. Of 34 patients operated <3 years after seizure onset, 30 (88%) achieved class-I outcome. 37/47 patients with lesional MRI (79%) had class-I outcome, whereas 9/18 with normal MRI (50%) had class-I outcome. PET scan was abnormal in almost all patients [61/63 (97%) with lateralizing/localizing findings in 56/61 (92%) patients, thus helping in surgical decision-making and guiding subdural grid placements, particularly in patients with non-lesional MRI. Fifteen had post-operative complications, mostly minor. Significance Curative epilepsy surgery in ES patients, with or without history of infantile spasms, is best accomplished at an early age and in those with lesional abnormalities on MRI with EEG concordance. Good outcomes can be achieved even when there is no MRI lesion but positive PET localization.

No abstract

No abstract

Purpose: Generalized paroxysmal fast activity (GPFA) is a diffuse, paroxysmal, frontal predominant activity described in patients with generalized epilepsies. Studies specifically focusing on electroclinical features of typical absence seizures in children have not reported any GPFA-like features. We sought to identify GPFA in children with typical absence seizures, study its incidence, characteristic electroclinical features, and effect on their epilepsy. Methods: We performed a retrospective review of electroencephalograms of children with diagnosis of absence epilepsy. A total of 173 subjects were identified. In subjects with GPFA on their electroencephalograms, GPFA characteristics were collected (i.e., predominant location, duration, amplitude, frequency, provocation factors, and if GPFA was followed by spike-wave discharges). In GPFA-positive subjects, further data sets were collected examining their demographics, duration of epilepsy, and pharmacoresponsiveness to epilepsy. Results: Generalized paroxysmal fast activity was identified in 10 subjects (5.78%) with female to male ratio of 9:1. Median age of subjects was 17 years, and median duration of illness was 9.5 years. Mean maximum GPFA amplitude was 88.3 μV with posterior predominance in 9/10 subjects. Generalized paroxysmal fast activity frequency ranged between 11 and 20 Hz with duration of 1 to 4 seconds. Generalized paroxysmal fast activity was provoked with eye closure, hyperventilation, and photic stimulation. Antiseizure medications had no effect on GPFA, and epilepsy was well controlled in most subjects. Conclusions: Generalized paroxysmal fast activity is uncommon in children with typical absence seizures and has medium voltage, posterior predominance, and marked female preponderance. Generalized paroxysmal fast activity is seen during both pharmacoresponsive and drug-resistant epilepsy, and is not affected by antiseizure medications. It may serve as an independent marker of lifelong epilepsy.

We report a fatal case of disseminated amebiasis in a young African woman, which initially presented with an ulcerated cutaneous lesion on the left flank. The causative organism was confirmed by examination of a wet drop preparation from the ulcer discharge and by skin biopsy. The patient was not immunosuppressed and was treated unsuccessfully with metronidazole. Postmortem examination revealed the presence of intestinal amebiasis complicated by a liver abscess.

Tuberous sclerosis complex (TSC) is an autosomal-dominant neurocutaneous disorder characterized by lesions and benign tumors in multiple organ systems including the brain, skin, heart, eyes, kidneys, and lungs. The phenotype is highly variable, although penetrance is reportedly complete. We report the molecular diagnosis of TSC in individuals exhibiting extreme intra-familial variability, including the incidental diagnosis of asymptomatic family members. Exome sequencing was performed in three families, with probands referred for epilepsy, autism, and absent speech (Family 1); epileptic spasms (Family 2); and connective tissue disorders (Family 3.) Pathogenic variants in TSC1 or TSC2 were identified in nine individuals, including relatives with limited or no medical concerns at the time of testing. Of the nine individuals reported here, six had post-diagnosis examinations and three met clinical diagnostic criteria for TSC. One did not meet clinical criteria for a possible or definite diagnosis of TSC, and two had only a possible clinical diagnosis following post-diagnosis workup. These individuals as well as their mothers demonstrated limited features that would not raise concern for TSC in the absence of molecular results. In addition, three individuals exhibited epilepsy with normal brain MRIs, and two without seizures or intellectual disability had MRI findings fulfilling major criteria for TSC highlighting the difficulty providers face when relying on clinical criteria to guide genetic testing. Given the importance of a timely TSC diagnosis for clinical management, such cases demonstrate a potential benefit for clinical criteria to include seizures and an unbiased molecular approach to genetic testing.

No abstract

Background 49, XXXXY is one of the most severe forms of chromosome aneuploidy and is characterized by developmental delay and profound language impairment; particularly involving expressive language functions. We describe the neurocognitive profile and structural anatomy of language pathway in a 2 year-old boy with 49, XXXXY syndrome with expressive aphasia. Methods Retrospective chart review of the patient was performed. We characterized the language deficits using neuropsychological testing. We further studied the language pathways using diffusion tensor imaging (DTI) analytical technique. Results Neurocognitive profile of the patient showed relative weakness of expressive language skills compared to other domains. DTI analysis demonstrated a poorly developed frontal aslant tract; a weak indirect segment of arcuate fasciculus and normally developed direct segment of arcuate fasciculus. Frontal aslant tract is a novel pathway, which connects Broca’s area with the anterior cingulate and pre-supplementary motor area and plays a role in the ‘motor stream’ of language. Conclusion Poorly developed frontal aslant tract may underlie the expressive language deficits and provide some insight into the role of X chromosome in modulating the development of language tracts.