Negative MRI and a seizure onset zone close to eloquent areas in FCD type II: Application of MRg-LiTT after a SEEG re-evaluation in pediatric patients with a previous failed surgery.

OBJECTIVE: Negative MRI and an epileptogenic zone (EZ) adjacent to eloquent areas are two main issues that can be encountered during pre-surgical evaluation for epilepsy surgery. Focal Cortical Dysplasia type II (FCD type II) is the most common aetiology underlying a negative MRI. The objective of this study is to present three cases of pediatric patients exhibiting negative MRI and a seizure onset zone close to eloquent areas, who previously underwent traditional open surgery or SEEG-guided radiofrequency thermocoagulations (RF-TC). After seizure seizure recrudescence, pre-surgical SEEG was re-evaluated and Magnetic Resonance-guided laser interstitial thermal therapy (MRg-LiTT) was performed. We discuss the SEEG patterns, the planning of laser probes trajectories and the outcomes one year after the procedure. METHODS: Pediatric patients who underwent SEEG followed by MRg-LiTT for drug-resistant epilepsy associated with FCD type II at our Centre were included. Pre-surgical videoEEG (vEEG), stereoEEG (sEEG), and MRI were reviewed. Post-procedure clinical outcome (measured by Engel score) and complications rates were evaluated. RESULTS: Three patients underwent 3 MRg-LiTT procedures from January 2022 to June 2022. Epileptogenic zone was previously studied via SEEG in all the patients. All the three patients pre-surgical MRI was deemed negative. Mean age at seizure onset was 47 months (21-96 months), mean age at MRg-LiTT was 12 years (10 years 10 months - 12 years 9 months). Engel class Ia outcome was achieved in patients #2 and #3, Engel class Ib in patient #1. Mean follow-up length was of 17 months (13 months - 20 months). Complications occurred in one patient (patient #2, extradural hematoma). CONCLUSIONS: The combined use of SEEG and MRg-LiTT in complex cases can lead to good outcomes both as a rescue therapy after failed surgery, but also as an alternative to open surgery after a successful SEEG-guided Radiofrequency Thermocoagulation (RF-TC). Specific SEEG patterns and a previous good outcome from RF-TC can be predictors of a favourable outcome.

Widening the Neuroimaging Features of Adenosine Deaminase 2 Deficiency.

Adenosine deaminase 2 deficiency (OMIM #615688) is an autosomal recessive disorder characterized by a wide clinical spectrum, including small- and medium-sized vessel vasculopathies, but data focusing on the associated neuroimaging features are still scarce in the literature. Here, we describe the clinical neuroimaging features of 12 patients with genetically proven adenosine deaminase 2 deficiency (6 males; median age at disease onset, 1.3 years; median age at genetic diagnosis, 15.5 years). Our findings expand the neuroimaging phenotype of this condition demonstrating, in addition to multiple, recurrent brain lacunar ischemic and/or hemorrhagic strokes, spinal infarcts, and intracranial aneurysms, also cerebral microbleeds and a peculiar, likely inflammatory, perivascular tissue in the basal and peripontine cisterns. Together with early clinical onset, positive family history, inflammatory flares and systemic abnormalities, these findings should raise the suspicion of adenosine deaminase 2 deficiency, thus prompting genetic evaluation and institution of tumor necrosis factor inhibitors, with a potential great impact on neurologic outcome.

Noninvasive Assessment of Hemodynamic Stress Distribution after Indirect Revascularization for Pediatric Moyamoya Vasculopathy.

BACKGROUND AND PURPOSE: Indirect revascularization surgery is an effective treatment in children with Moyamoya vasculopathy. In the present study, we hypothesized that DSC-PWI may reliably assess the evolution of CBF-related parameters after revascularization surgery, monitoring the outcome of surgical pediatric patients with Moyamoya vasculopathy. Thus, we aimed to evaluate differences in DSC-PWI parameters, including the hemodynamic stress distribution, in surgical and nonsurgical children with Moyamoya vasculopathy and to correlate them with long-term postoperative outcome. MATERIALS AND METHODS: Pre- and postoperative DSC parameters of 28 patients (16 females; mean age, 5.5 ± 4.8 years) treated with indirect revascularization were compared with those obtained at 2 time points in 10 nonsurgical patients (6 females; mean age, 6.9 ± 4.7 years). We calculated 4 normalized CBF-related parameters and their percentage variance: mean normalized CBF of the MCA territory, mean normalized CBF of the proximal MCA territory, mean normalized CBF of cortical the MCA territory, and hemodynamic stress distribution. The relationship between perfusion parameters and postoperative outcomes (poor, fair, good, excellent) was explored using 1-way analysis of covariance (P < .05). RESULTS: A significant decrease of the mean normalized CBF of the proximal MCA territory and hemodynamic stress distribution and an increase of the mean normalized CBF of the cortical MCA territory were observed after revascularization surgery (P < .001). No variations were observed in nonsurgical children. Postoperative hemodynamic stress distribution and its percentage change were significantly different in outcome groups (P < .001). CONCLUSIONS: DSC-PWI indices show postoperative hemodynamic changes that correlate with clinical outcome after revascularization surgery in children with Moyamoya disease.

MR Imaging Diagnosis of Diencephalic-Mesencephalic Junction Dysplasia in Fetuses with Developmental Ventriculomegaly.

Diencephalic-mesencephalic junction dysplasia is a rare malformation characterized by a poorly defined junction between the diencephalon and the mesencephalon, associated with a characteristic butterfly-like contour of the midbrain (butterfly sign). This condition may be variably associated with other brain malformations, including callosal abnormalities and supratentorial ventricular dilation, and is a potential cause of developmental hydrocephalus. Here, we have reported 13 fetuses with second-trimester obstructive ventriculomegaly and MR features of diencephalic-mesencephalic junction dysplasia, correlating the fetal imaging with available pathology and/or postnatal data. The butterfly sign can be clearly detected on axial images on fetal MR imaging, thus allowing for the prenatal diagnosis of diencephalic-mesencephalic junction dysplasia, with possible implications for the surgical management of hydrocephalus and parental counseling.

Comparing 3T T1-weighted sequences in identifying hyperintense punctate lesions in preterm neonates.

BACKGROUND AND PURPOSE: The loss of contrast on T1-weighted MR images at 3T may affect the detection of hyperintense punctate lesions indicative of periventricular leukomalacia in preterm neonates. The aim of the present study was to determine which 3T T1-weighted sequence identified the highest number of hyperintense punctate lesions and to explore the relationship between the number of hyperintense punctate lesions and clinical outcome. MATERIALS AND METHODS: The presence of hyperintense punctate lesions was retrospectively evaluated in 200 consecutive preterm neonates on 4 axial T1-weighted sequences: 3-mm inversion recovery and spin-echo and 1- and 3-mm reformatted 3D-fast-field echo. Statistically significant differences in the number of hyperintense punctate lesions were evaluated by using a linear mixed-model analysis. Logistic regression analysis was used to assess the relation between the number of hyperintense punctate lesions and neuromotor outcome at 3 months. RESULTS: Thirty-one neonates had at least 1 hyperintense punctate lesion indicative of periventricular leukomalacia in at least 1 of the 4 sequences. The 1-mm axial reformatted 3D-fast-field echo sequence identified the greatest number of hyperintense punctate lesions (P < .001). No statistically significant differences were found among the 3-mm T1-weighted sequences. The greater number of hyperintense punctate lesions detected by the 1-mm reformatted T1 3D-fast-field echo sequence in the central region of the brain was associated with a worse clinical outcome. CONCLUSIONS: At 3T, the 1-mm axial reformatted T1 3D-fast-field echo sequence identified the greatest number of hyperintense punctate lesions in the central region of preterm neonate brains, and this number was associated with neuromotor outcome.

Validez de la ingesta energética estimada por registro alimentario en deportistas recreacionales / Validity of energy intake determined by food record in recreational sportspeoples

Introducción: Las estimaciones no representativas de la ingesta habitual reducen la validez de una investigación.Objetivos: Determinar qué proporción de un grupo de adultos que practican actividad física en forma recreacional, realizan registros alimentarios de escasa validez para estimar la ingesta energética habitual. Determinar si la validez de la ingesta energética estimada se asocia con determinadas características de los encuestados (sociodemográficas y antropométricas entre otras). Material y Métodos: Estudio transversal analítico. Se incluyeron adultos de 19 a 70 años, de ambos sexos, que realizaron actividad física programada en 4 establecimientos deportivos en Capita Federal y el Conurbano bonaerense de julio a septiembre de 2009. Se realizaron dos entrevistas, mediciones antropométricas, un registro alimentario de 6 días y un registro de actividad física. Para identificar ingesta estimadas no representativas de la ingesta habitual se utilizó el método de Mc.Crory y col., con un punto de corte ±1DE. Resultados: De los 48 encuestados, el 31,3% (n=15) realizó un registroalimentario compatible con una subestimación de la ingesta energética habitual. El 22,9% (n=11) de los encuestados realizó un registro alimentario que posiblemente sobrestimó la ingesta de energía. La circunferencia de cintura aumentada y el sobrepeso se asociaron con el subregistro (p<0,01), mientras que en el grupo que posiblemente sobrestimó la ingesta había una mayor proporción de individuos con un nivel educativo mayor al secundario completo (p<0,05). Conclusiones: Tanto el sub como el sobre registro estuvieron presentes en este grupo y deben ser tenidos en cuenta al diseñar estudios que utilicen estas herramientas.