Vigabatrin-associated brain abnormalities on MRI and other neurological symptoms in patients with West syndrome.

OBJECTIVES: Report a series of children with West syndrome (WS) treated with vigabatrin (VGB) who developed characteristic MRI alterations. In the majority, these adverse events were asymptomatic; however, some of the patients developed movement disorders and acute encephalopathy. METHODS: This is a retrospective analysis of our epilepsy clinical and EEG database of 288 patients with WS seen between 2014 and 2020. All patients who received VGB alone or with concomitant therapies, such as adrenocorticotropic hormone (ACTH), high-dose oral corticosteroids, ketogenic diet, valproate, levetiracetam, or topiramate, were evaluated. RESULTS: In 44 of 288 patients with WS receiving VGB, MRI findings compatible with VGB-associated brain abnormalities were identified; median age at diagnosis was 6.29 months (range, 2 weeks to 11 months). The etiology of WS with vigabatrin-associated brain abnormalities on MRI (VABAM) was unknown in 22 (52.27%), genetic in seven (15.9%), genetic-structural in three (6.8%), structural malformative in three others (6.8%), and structural acquired in eight patients (18.2%). Vigabatrin-associated brain abnormalities on MRI was asymptomatic in 25 of 44 patients. Ten of 44 (22.7%) infants were reported to have had a movement disorder (choreoathetosis, dystonic posturing). Nine of 42 infants exhibited progressive psychomotor deterioration associated with signs and symptoms of encephalopathy. CONCLUSION: MRI abnormalities were observed in infants treated with VGB and they appeared to be dose dependent. In our study common locations for MRI abnormalities included globi pallidi and brainstem, followed by thalami and dentate nuclei. Risk factors for the development of VABAM may include age younger than 11 months and higher VGB dose of VGB (>165 mg/kg/day). Vigabatrin-associated brain abnormalities on MRI usually resolved following VGB discontinuation, probably after a period of 3 months.

Rufinamide as add-on therapy in children with epileptic encephalopathies other than Lennox-Gastaut syndrome: A study of 34 patients.

OBJECTIVE: Here, we present a multicenter series of patients with developmental and epileptic encephalopathies (DEE) and related electroclinical patterns (REP) other than Lennox-Gastaut syndrome (LGS) who were treated with rufinamide as add-on therapy. METHODS: Medical records of 34 patients with DEE and REP other than LGS treated with add-on rufinamide seen at four pediatric neurology centers in Argentina between May 2014 and March 2019 were retrospectively analyzed. RESULTS: We evaluated 34 patients (18 males, 16 females), aged between 2 and 15 years with a mean and median age of 6 and 8 years, respectively. The children had different types of childhood-onset refractory DEE and REP other than LGS and were treated with rufinamide for a mean period of 20 months (range, 12-60 months). Twenty-two of 34 patients (64.5%) who received rufinamide as add-on therapy had a greater than 50% decrease in seizures, and two patients (5.8%) became seizure-free. Four patients (11.7%) had a 25-50% seizure reduction, while seizure frequency remained unchanged in four others (11.7%) and increased in two patients (5.8%). The final mean dosage of rufinamide was 31.5 ±â€¯15.5 mg/kg per day (range, 19-75.4 mg/kg) if combined with valproic acid and of 35.4 ±â€¯11.5 mg/kg per day (range, 8-60.5 mg/kg) without valproic acid. Adverse effects were recorded in nine patients (26.4%). A seizure increase was reported in two of 24 patients (7.3%). CONCLUSION: Rufinamide may be used as a treatment option in DEE and REP other than LGS.

[Benefit of surgery in a case of negative motor focal epileptic seizures secondary to parietal cortical dysplasia]. / Beneficio de la cirugía en un caso de crisis epilépticas focales motoras negativas secundarias a displasia cortical parietal.

Focal atonic seizures are recognized rarely as ictal phenomena, they can correspond to both generalized epilepsy and focal epilepsy. The areas of the brain involved in the management of this type of seizure are: the negative motor area and the primary motor and primary somatosensory cortices, although the neurophysiology that generates them is still unclear. We present the case of a patient with focal atonic seizures in the left upper limb, refractory to drug treatment. Neuroimaging was performed, a parietal cortical lesion was diagnosed. A scalp Video EEG and then a Stereo EEG was performed, defining the epileptogenic area and its relationship with eloquent areas. Surgical resection of the lesion was performed, achieving complete seizure control.

Las crisis atónicas focales son poco reconocidas como fenómenos ictales, pueden corresponder tanto a una epilepsia generalizada como a una epilepsia focal. Las áreas del cerebro implicadas en la gestión de este tipo de crisis son: el área motora negativa y las cortezas motora primaria y somatosensitiva primaria, aunque aún la neurofisiología que las genera no está aclarada. Presentamos el caso de un paciente con crisis atónicas focales farmacorresistentes en miembro superior izquierdo. Se realizó resonancia de cerebro con diagnóstico de displasia cortical parietal, se monitoreó con video EEG de scalp y luego a video EEG con electrodos profundos. Se definieron el área epileptógena y su relación con áreas elocuentes, se realizó resección quirúrgica de la lesión, logrando el control completo de las crisis.

Beneficio de la cirugía en un caso de crisis epilépticas focales motoras negativas secundarias a displasia cortical parietal / Benefit of surgery in a case of negative motor focal epileptic seizures secondary to parietal cortical dysplasia

Resumen Las crisis atónicas focales son poco reconocidas como fenómenos ictales, pueden corresponder tanto a una epilepsia generalizada como a una epilepsia focal. Las áreas del cerebro implicadas en la gestión de este tipo de crisis son: el área motora negativa y las cortezas motora primaria y somatosensitiva primaria, aunque aún la neurofisiología que las genera no está aclarada. Presentamos el caso de un paciente con crisis atónicas focales farmacorresistentes en miembro superior iz quierdo. Se realizó resonancia de cerebro con diagnóstico de displasia cortical parietal, se monitoreó con video EEG de scalp y luego a video EEG con electrodos profundos. Se definieron el área epileptógena y su relación con áreas elocuentes, se realizó resección quirúrgica de la lesión, logrando el control completo de las crisis.

Abstract Focal atonic seizures are recognized rarely as ictal phenomena, they can correspond to both generalized epilepsy and focal epilepsy. The areas of the brain in volved in the management of this type of seizure are: the negative motor area and the primary motor and primary somatosensory cortices, although the neurophysiology that generates them is still unclear. We present the case of a patient with focal atonic seizures in the left upper limb, refractory to drug treatment. Neuroimaging was performed, a parietal cortical lesion was diagnosed. A scalp Video EEG and then a Stereo EEG was performed, defining the epileptogenic area and its relationship with eloquent areas. Surgical resection of the lesion was performed, achieving complete seizure control.

Rasmussen syndrome: an atypical presentation in ten patients.

The aim of this study was to analyse the electroclinical and imaging findings and outcome of patients with Rasmussen syndrome (RS) with atypical manifestations. We conducted a retrospective, descriptive study of 10 of 44 consecutive patients with RS with atypical features, followed between 1999 and 2017. Six patients were boys and four were girls. The mean and median ages at onset of the seizures were 8.8 and 6.5 years, respectively (range: 4.6-13 years). All of the patients except one had seizures. Eight patients (80%) had epilepsia partialis continua that started at a mean age of 7.5 years (range: 7-15 years). In our series, hemiparesis without seizures was the first manifestation in three patients, one of whom had dual pathology. In two patients, the first manifestation was dyskinetic movements, followed by delayed-onset seizures associated with unilateral caudate atrophy. Two patients had a focal lesion mimicking focal cortical dysplasia as the first MRI abnormality; one of these two patients had epileptic spasms in clusters. Bilateral cerebral hemisphere involvement was observed in three patients during the course of the disease. Six of eight patients responded well to surgical treatment. Progressive hemiparesis alone or with delayed-onset seizures, dyskinetic movements associated with seizures, a focal lesion mimicking focal cortical dysplasia, and bilateral brain involvement were the atypical features recognized. Our series of patients responded well to surgery. Clinical, video-EEG, and neuroradiological follow-up is important for early confirmation of RS in order to initiate adequate management of the condition.

Epileptic spasms in clusters without hypsarrhythmia in infancy.

Spasms are defined as epileptic seizures characterized by brief axial contraction, in flexion, extension or mixed, symmetric or asymmetric, lasting from a fraction of a second to 1-2s, and are associated with a slow-wave transient or sharp and slow-wave complex, followed or not by voltage attenuation. Epileptic spasms usually appear in clusters and are age-dependent. This type of epileptic spasms associated with the particular EEG pattern, hypsar rhythmia, constitutes the basis for the diagnosis of West syndrome. The question is, how to nosologically define those patients who clearly present epileptic spasms in clusters without modified or typical hypsarrhythmia and with or without focal paroxysmal discharges on the interictal EEG. In the present series, the four patients show that epileptic spasms in clusters may occur in infancy, without hypsarrhythmia. They all presented the following features: normal neuropsychological development before onset of epileptic spasms, clusters of epileptic spasms, focal clinical and/or EEG abnormalities, normal neuroradiological imaging, neurometabolic investigations and karyotypes. In three of the patients, seizures were refractory to AEDs. Epileptic spasms in clusters without hypsarrhythmia that start in the first year of life represent a subtype of infantile spasms that generally are refractory to AEDs. It is not yet clear whether it should be considered as a variant of West syndrome or not [Published with Video sequence].

Epilepsy surgery in Argentina: long-term results in a comprehensive epilepsy centre.

RATIONALE: Epilepsy surgery procedures started in Argentina more than 50 years ago. This is the first comprehensive and systematic survey of epilepsy surgery long-term outcome from our country. METHODS: A descriptive cohort study was conducted between 1998 and 2008 for drug-resistant epilepsy surgery with a minimum of 12 months follow-up (n=110). In 84 cases (76.36%) resective surgery was performed, and outcome periodically assessed using the Engel score. Patients were stratified into groups: 12, 13-36, 37-60 and over than 60 months of follow-up. Video-EEG with and without intracranial electrode implants, intraoperative electrocorticograms, Wada tests, pathology reports, use of antiepileptic drugs (AEDs), and surgical complication rates were evaluated. RESULTS: Surgical techniques included: 69 lobectomies (62.7%), 15 lesionectomies (13.6%), 6 callosotomies (5.4%), 6 multiple subpial transection (5.4%), 11 vagus nerve stimulations (10%), 3 hemispherectomies (2.7%). Male: female ratio: 1/1.44. Mean age at time of surgery: 26.2 years. Mean duration of epilepsy: 14 years. Age at seizure onset: 11.5 years. Mean follow-up: 46 months. Pathology findings: mesial temporal sclerosis 32 (35.1%); dual pathology 17 (18.7%); cortical dysplasia 15 (16.4%); non-specific inflammatory changes 11 (12.1%); tumors 7 (7.7%); other 6 (6.8%). Engel scores at 12 months follow-up: 72.6% (61) class I, 16.6% (14) class II and 15.5% (13) class III-IV; 13-36 months after surgery: 68.1% of cases were class I, 15.9% class II and 15.5% class III-IV. After 37-60 months, 74% class I, 14% class II, 14% class III-IV. Over 60 months (n=45) 78% class I, 13.5% class II and 8.1% class III-IV. CONCLUSION: Conducting a successful epilepsy surgery program in a developing country is challenging. These results should encourage specialists in these countries. Long-term outcome results comparable to centres in developed countries can be achieved.

Malformación del desarrollo cortical: nuestra experiencia acerca de 150 casos / Cortical development malformations (CDM): our experience on 150 cases

Objetivo Realizar una evaluación retrospectiva de 150 pacientes de una serie de 570 (26.3%), operados por epilepsia refractaria con diagnóstico de algún tipo de malformación del desarrollo cortical (MDC), desde 1988 a noviembre de 2009. Material y método. 118 niños y 32 adultos; 69 localización temporal (42 niños, 27 adultos) y 81 extratemporal (76 niños y 5 adultos). La evaluación prequirúrgica incluye: características clínico-semiológicas de las crisis epilépticas, EEG de superficie, video EEG, TC y/o RM y evaluación neuropsicológica. Población: varones: 86; mujeres 64; edad, media de 6.7 años (rango: 6 m – 18.9 a) en los niños y media de 31.3 años (rango: 19-59 a) en los adultos. Evolución de epilepsia: media de 4.9 años para los niños (rango: 1 mes a 17 años) y media de 13.8 (rango: 2 meses a 50 años). Aspectos clínicos: tipos de crisis: pudiendo un mismo paciente presentar más de una de ellas, vinculadas a la localización, CPS, ausencias, crisis tónicas, automatismos, crisis versivas, CPC, anopsia transitoria, “drop attacks”, “Startle epilepsia”, escotoma, automatismos masticatorios, crisis clónicas, fotopsia, desviación ocular, “head attacks”. Imágenes: la TC fue normal en 5, y se realizó IRM en todos a partir de 1996

Objective: To evaluate the surgical results in a group of patients with epilepsy associated with cortical development malformations (CDM). Method: A retrospective study in 150 patients of a series of 570 patients (26.3%) who have undergone surgery for intractable epilepsy with a diagnosis of CDM, since 1988. Clinical features,scalp EEG, video EEG, CT scan, MRI and neuropsychological evaluation were assessed. Population: males: 86 patients, females: 64; mean age, children: 6.7 years (range: 0,5-18.9) and adults: 31.3 years (range: 19-59); mean evolution of epilepsy, children: 4.9 years (range: 1mo-17 yr.), adults: 13.8 years (range: 2mo-50 yr.). Clinical manifestations: CPS, absences,tonic crises, automatisms and versive crises, CPS, transitory anopsia, drop attacks and Startle epilepsy, scotoma, masticatory automatisms, clonic crises, photopsia, eye deviation and head attacks. Imaging: CT scan was normal in 5, and MRI was performed since 1996. Twenty of 150 (13.3%) required chronic intracranial electrodes implantation. Surgical procedures: resectives: lesionectomies 63 (wide lesionectomy, 17 and + MST, 5), standard anterior temporal lobectomies (SATL) 37, anteromesial resections (Spencer) 9, corticectomies 11(+MST, 1),amigdalo- hippocampectomies 3, anatomic hemispherectomy 1, lobectomy1 and polectomies 4; disconnecting procedures: functional hemispherectomies (FH) 10, hemispherotomy 4, hemi-hemispherectomy 1, multiple subpial transection (MST) 1 and 2 callosotomies...