Synthetic MRI in children with tuberous sclerosis complex.

OBJECTIVE: The generation of numerous sequences and quantitative data in a short scanning time is the most potential advantage of Synthetic MRI (SyMRI). We aimed to test detection of the tubers and to determine underlying tissue characteristics, and morphometric alterations in the brain of pediatric tuberous sclerosis complex (TSC) patients, using SyMRI. METHODS: Conventional brain MRI (cMRI) and SyMRI were prospectively obtained from 10 TSC patients and 18 healthy control subjects (HCs). Two neuroradiologists independently evaluated tubers on both scans. Additionally, automatically segmented volume calculation and myelin quantification, including the subcortical part of the tubers and normal-appearing brain parenchyma (NABP) of patients, were carried out using SyMRI. RESULTS: The cMRI and SyMRI comparison showed a very good correlation on the detection of the tubers (k = 0.82-0.94). Automatic segmentation of Non-gray matter/white matter/cerebrospinal fluid (Non), %Non/brain parenchymal volume, and %Non/intracranial volume was significantly higher; however, %Myelin/intracranial volume and %Myelin/brain parenchymal volume were significantly lower in the TSC patients (p < 0.05). The proton density values were significantly increased, and myelin fraction volume and myelin-correlated compound values were significantly decreased in the NABP in TSC patients on myelin maps (p < 0.05). The white-matter volume, myelin and white-matter fractional volume, longitudinal relaxation rate, transverse relaxation rate, and myelin-correlated compound values were significantly decreased in the subcortical part of tubers on quantification maps (p < 0.001) in TSC patients. CONCLUSION: SyMRI enables the detection of cortical tubers and is a developing tool in the quantification of morphometric and tissue alterations in pediatric TSC patients with a rational scanning time

The Seizure Semiology Consistent With Frontal Lobe Symptomatogenic Zone In Children

The aim of this study is to analyze the seizure semiology consistent with frontal lobe symptomatogenic zone in childhood. We analyzed 549 videotaped seizures from 79 patients (mean age 9.9 +/- 3.8 years). Magnetic resonance imaging was normal in 30 patients. The seizures in the time interval of 10 p.m. to 6 a.m. were considered as nocturnal. The mean number of seizures per patient was 6.8 +/- 7.3. The mean seizure duration was 25.7 +/- 26.9 sec; postictal confusion was 27 +/- 16.1 sec (7-92 seconds). The seizures were observed in sleep with a rate of 56.8%; 43.1% of them were during wakefulness. Overall 50.4% of the seizures occured during night-time sleep. Tonic seizure (77.2%) was the most frequent simple motor seizure. Versive seizures were the second most frequent type of simple motor seizure (26.7%). Clonic seizures were 17.7%, complex motor seizures were 20.5%, and dialeptic seizures were 3% of all the seizures. Epileptic spasm, myoclonic seizures, aphasia, and akinetic semiologies were not observed. Vocalization was observed in 16% of the seizures. Frontal lobe seizures in childhood have a short duration, occur frequently, especially during night time sleep, and have a brief postictal period. Tonic semiology, versive semiology are the most frequent seizure semiologies; hypermotor and secondary generalized tonic clonic seizures and vocalizations are observed less in children compared to adults

Evaluation Of Central Nervous System In Patients With Glycogen Storage Disease Type 1A

We aimed to evaluate structure and functions of central nervous system (CNS) in children with glycogen storage disease (GSD) type 1a. Neurological examination, psychometric tests, electroencephalography (EEG), magnetic resonance imaging (MRI), visual evoked potentials (VEP) and brainstem auditory evoked potentials (BAEP) were performed. The results were compared between patients with good and poor metabolic control and healthy children. Twenty-three patients with GSD type 1a were studied. Twelve patients were in poor metabolic control group and 11 patients in good metabolic control group. Five patients had intellectual disability, 10 had EEG abnormalities, seven had abnormal VEP and two had abnormal BAEP results. MRI was abnormal in five patients. There was significant correlation between the number of hypoglycemic attacks and MRI abnormalities. Central nervous system may be affected in GSD type 1a even in patients with normal neurologic examination. Accumulation of abnormal results in patients with poor metabolic control supports the importance of metabolic control in GSD type 1a.WoSScopu

Response To Early Coenzyme Q10 Supplementation Is Not Sustained In Coq10 Deficiency Caused By Coq2 Mutation (Vol 88, Pg 71, 2018)

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Intelligence quotient improves after antiepileptic drug withdrawal following pediatric epilepsy surgery

ObjectiveAntiepileptic drugs (AEDs) have cognitive side effects that, particularly in children, may affect intellectual functioning. With the TimeToStop (TTS) study, we showed that timing of AED withdrawal does not majorly influence long-term seizure outcomes. We now aimed to evaluate the effect of AED withdrawal on postoperative intelligence quotient (IQ), and change in IQ (delta IQ) following pediatric epilepsy surgery. MethodsWe collected IQ scores of children from the TTS cohort with both pre- and postoperative neuropsychological assessments (NPAs; n=301) and analyzed whether reduction of AEDs prior to the latest NPA was related to postoperative IQ and delta IQ, using linear regression analyses. Factors previously identified as independently relating to (delta) IQ, and currently identified predictors of (delta) IQ, were considered possible confounders and used for adjustment. Additionally, we adjusted for a compound propensity score that contained previously identified determinants of timing of AED withdrawal. ResultsMean interval to the latest NPA was 19.818.9 months. Reduction of AEDs at the latest NPA significantly improved postoperative IQ and delta IQ (adjusted regression coefficient [RC]=3.4, 95% confidence interval [CI]=0.6-6.2, p=0.018 and RC=4.5, 95% CI=1.7-7.4, p=0.002), as did complete withdrawal (RC=4.8, 95% CI=1.4-8.3, p=0.006 and RC=5.1, 95% CI=1.5-8.7, p=0.006). AED reduction also predicted 10-point IQ increase (p=0.019). The higher the number of AEDs reduced, the higher was the IQ (gain) after surgery (RC=2.2, 95% CI=0.6-3.7, p=0.007 and RC=2.6, 95% CI=1.0-4.2, p=0.001, IQ points per AED reduced). InterpretationStart of AED withdrawal, number of AEDs reduced, and complete AED withdrawal were associated with improved postoperative IQ scores and gain in IQ, independent of other determinants of cognitive outcome. Ann Neurol 2015;78:104-11