Reduced thalamic volume is strongly associated with electrical status epilepticus in sleep.

To identify the relationship between thalamic volume and electrical status epilepticus in sleep (ESES). We analyzed subcortical gray matter volumes in patients with an ESES pattern on their electroencephalographs. All magnetic resonance imaging scans were considered within normal limits. The patients were not receiving antiepileptic drug at the time of the MRI study. High resolution T1-weighted 3-dimensional MPRAGE scans were assessed for segmentation and quantitative volumetric analysis of the brain by using the "volBrain" method. After correcting for total brain volume, volumes were compared with a group of healthy controls (HCs) and patients with benign childhood epilepsy with centrotemporal spikes (BECTS). Fifteen patients with ESES, 15 patients with BECTS, and 30 HCs were included. The median age of the patients with ESES was 8.5 (range, 5.8-13) years, 8 (range, 5-14) years for the HCs, and 7.8 (range, 4-13.5) years for the patients with BECTS. The total relative thalamic volume was significantly lower in patients with ESES than in the healthy controls (0.87 ± 0.07 vs. 0.93 ± 0.03, p = 0.002), and in patients with ESES than in those with BECTS (0.87 ± 0.07 vs. 0.93 ± 0.03, p = 0.006). There was no significant difference the HCs and patients with BECTS (0.93 ± 0.03 vs. 0.93 ± 0.03, p = 0.999). Both right and left relative thalamic volumes were lower in patients with ESES than in HCs (right thalamus: 0.43 ± 0.04 vs. 0.46 ± 0.02, p = 0.003, left thalamus: 0.44 ± 0.03 vs. 0.47 ± 0.02, p = 0.002), in patients with ESES than in patients with BECTS (right thalamus: 0.43 ± 0.04 vs. 0.46 ± 0.01, p = 0.01, left thalamus: 0.43 ± 0.04 vs. 0.47 ± 0.01, p = 0.007); however, there was no significant difference between the HCs and patients with BECTS (right thalamus: 0.46 ± 0.02 vs. 0.46 ± 0.01, p = 0.999, left thalamus: 0.47 ± 0.02 vs. 0.47 ± 0.01, p = 0.999). This study highlights the association between thalamic involvement and ESES, even when not severe enough to cause a detectable lesion on visual interpretation of MRI.

Sydenham Chorea: Putaminal Enlargement.

BACKGROUND: Our aim in this study was to evaluate the efficacy of magnetic resonance imaging (MRI) studies in the detection of brain regions effected by Sydenham chorea and to determine whether they provided data regarding the pathogenesis of Sydenham chorea. To this end, we assessed basal ganglia structures in Sydenham chorea patients and control group by quantitative MRI volumetric analysis. METHODS: Patients with a recent onset of chorea and control subjects matched for age and gender were included in the study. Medical history, laboratory tests, and physical and neurologic examinations were reviewed. All MRIs were considered within normal limits. High-resolution T1-weighted 3D magnetization-prepared rapid acquisition of gradient echo scans were used for quantitative volumetric assessment of the brain via the "volBrain" method. RESULTS: Twenty-four subjects with Sydenham chorea (16 girls and 8 boys, aged between 7 and 16 years) and 35 control subjects were evaluated. Mean age was 11.25 ± 2.89 years for Sydenham chorea patients and 10.58 ± 2.53 years for the controls. No significant difference was found relative to globus pallidus, caudate, and thalamic volumes between patients with Sydenham chorea and controls. The relative mean total, left, and right putamen volumes were significantly larger in patients with Sydenham chorea compared to controls (P = .003, P = .018, P = .001, respectively). CONCLUSION: Selective neuroanatomic differences in putamen among other basal ganglia structures and significant increases in size are consistent with a hypothesis of a cross-reactive antibody-mediated inflammation of the putamen as being the pathophysiologic mechanism for this disorder.

Subcortical gray matter changes in pediatric patients with new-onset juvenile myoclonic epilepsy.

OBJECTIVE: The objective of the study was to identify the relationship between subcortical gray matter (GM) volumes and juvenile myoclonic epilepsy (JME). METHODS: We analyzed the brain magnetic resonance imaging (MRI) scans that were performed during the time of the diagnosis of epilepsy by using voxel-based morphometry (VBM) method. The volumetric three-dimensional sequence was used for structural investigation. The volumes of the thalamus, caudate nucleus, pallidum, and putamen were measured in both hemispheres of patients with JME, patients with generalized tonic-clonic seizures alone (GTCS) (as a disease control group) and healthy controls (HCs). All patients were drug-naïve, and treatment had been started after evaluating MRI results. RESULTS: Fifteen patients with JME (9 females, mean age = 16.1 ±â€¯3.2), 18 patients with GTCS (10 females, mean age = 15.5 ±â€¯2.9), and 43 HCs (24 females, mean age = 15.9 ±â€¯2.8) were included in the analysis. No significant difference was found for relative globus pallidus, caudate, and putamen volumes among the groups with JME, GTCS, and the HC group. The relative left and right thalamic volumes were significantly different between groups (Kruskal-Wallis rank test, p = 0.007, p = 0.001). In pairwise comparisons, both right and left relative thalamic volumes were lower in patients with JME than in HCs (right thalamus: means: 0.521 ±â€¯0.066 vs. 0.597 ±â€¯0.058, p < 0.001; left thalamus: means: 0.526 ±â€¯0.088 vs. 0.605 ±â€¯0.057, p < 0.001, Bonferroni post hoc corrections) and in patients with JME than in patients with GTCS (right thalamus: means: 0.521 ±â€¯0.066 vs. 0.578 ±â€¯0.066, p = 0.03; left thalamus: means: 0.526 ±â€¯0.088 vs. 0.592 ±â€¯0.068, p = 0.01, Bonferroni post hoc corrections), whereas there was no significant difference between the HCs and patients with GTCS (right thalamus: means: 0.597 ±â€¯0.058 vs. 0.578 ±â€¯0.066, p = 0.8; left thalamus: means: 0.605 ±â€¯0.057 vs. 0.592 ±â€¯0.068, p = 0.999, Bonferroni post hoc corrections). CONCLUSION: This study allowed us to know that microstructural abnormalities exist from the disease onset, and the thalamus might play a critical role in the pathogenesis of JME.

Hypomyelination and Congenital Cataract: Three Siblings Presentation.

Hypomyelination and congenital cataract (HCC) is a condition, which is caused by mutations in the FAM126A gene and is characterized by congenital cataract, progressive neurologic impairment, and myelin deficiency in both the central and peripheral nervous system. We present the findings of three siblings who applied to us with the same clinical features. These patients were referred to our clinic due to the presence of bilateral congenital cataract and progressive neurological impairment with peripheral neuropathy. Brain magnetic resonance imaging (MRI) showed diffuse hypomyelination, whereas neurophysiological studies showed sensorimotor peripheral polyneuropathy. Cases with hypomyelination in MRI represent the largest group of undiagnosed diseases among patients with leukoencephalopathies. To diagnose cases with peripheral neuropathy, their clinical and neuroradiological findings must be identified. These findings can guide clinicians to appropriate molecular investigations.

Risk factors for recurrence after drug withdrawal in childhood epilepsy.

BACKGROUND: Several studies have been conducted to determine the risk of recurrence after withdrawal of antiepileptic drugs (AEDs) in recent years. There is no consensus concerning the circumstances affecting discontinuation of AEDs. This study was designed to determine the recurrence rate of epilepsy after withdrawal of AEDs and the risk factors related with recurrence. METHODS: Children with epilepsy onset between 1 month and 16 years of age who were followed up at least 3 years after AED treatment withdrawal were enrolled. Patients were classified into groups according to defined risk factors for recurrence. RESULTS: A total of 284 patients, 137 (48.2%) girls and 147 (51.8%) boys were included, and seizures recurred after withdrawal in 51 patients (18%). Thirty-three (64.7%) patients had recurrence in the first year after withdrawal. The recurrence risk was calculated based on the electro-clinical syndromes classification; the recurrence risk was the highest in the juvenile myoclonic/absence group and lowest in the benign infantile seizure group. No recurrence was observed in the infantile spasm group. Data evaluated by multivariable analysis showed that having the structural-metabolic and unknown epilepsy and <3 years seizure free period before withdrawal of AEDs were the main risk factors for recurrence after AED withdrawal in our study. CONCLUSION: We suggest a seizure-free period of at least 3 years under AED medication and we must be cautious in patients with structural-metabolic and unknown epilepsy before AED withdrawal.

Ictal pouting ('Chapeau de gendarme') in three pediatric cases with cortical dysplasia.

Ictal pouting (Chapeau de gendarme sign) can be described as an inverted smile. It consists of a turned down mouth with the contraction of the chin, wrinkling of the lips and symmetrical lowering of the labial commissures. This shape resembles the gendarme's hat during Napoléon I's time. Chapeau de gendarme sign is frequently seen in frontal and temporal lobe seizures. Focal cortical dysplasias are intrinsically epileptogenic foci and are frequently seen in patients with ictal pouting in seizure semiology. In this report, we analyzed clinical data, video EEG recordings and brain imagings of three children presenting with ictal pouting semiology in whom patients' magnetic resonans images (MRIs) or positron emission tomographies (PETs) were positive or doubtful for FCD in all. In case 1 and 2 the epileptogenic zones were temporal or temporoinsular. In these patients, with involvement of temporal lobe, dystonia and automatisms were seen in the seizure semiology after chapeau de gendarme sign. In case 3 with frontal lobe origin, hypermotor movements were seen after ictal pouting. In the patients 1 and 2, the cortical dysplasias were in temporal lobe. In patient 3, PET demonstrated hypometabolism on left inferior frontal gyrus but we couldn't verify this finding with MRIs. Ictal pouting (Chapeau de gendarme sign) is a distinct seizure semiology that can often be overlooked and coexist with focal cortical thickening. We suggest that focal cortical dysplasias should be searched in patients with ictal pouting particularly in those with refractory focal seizures.

Cortical thinning in benign epilepsy with centrotemporal spikes (BECTS) with or without attention-deficit/hyperactivity (ADHD).

The aim of this study is to evaluate the abnormal cortical structures associated with newly diagnosed benign epilepsy with centrotemporal spikes (BECTS) patients and assessed the effects of comorbid attention-deficit/hyperactivity (ADHD) on these abnormalities. Newly diagnosed BECTS patients (n = 33, 23 males) and age-matched healthy controls (n = 48) were evaluated by surface and volumetric MRI. CAT12 toolbox (HYPERLINK "http://www.neuro.uni-jena.de/cat/"\t"_blank" http://www.neuro.uni-jena.de/cat/, version r1109), SPM12(HYPERLINK"http://www.fil.ion.ucl.ac.uk/spm/software/spm12/"\t"_blank"http://www.fil.ion.ucl.ac.uk/spm/software/spm12/, version 6225) and MATLAB (9.5, Mathworks, Natick, MA) were used to gather CT estimates. An additional comparison was performed between BECTS children with (n = 13) and without ADHD (n = 20). BECTS patients had significantly smaller volume in left postcentral gyrus when compared to healthy controls. BECTS patients with ADHD had significantly thinner superior-inferior frontal cortex, superior temporal cortex, left pericalcarine, lingual and fusiform cortex to healthy controls. Also BECTS without ADHD patients had thinner cortical areas when compared to healthy controls, however the significance was more relevant in the BECTS with ADHD. The left fusiform cortex of BECTS patients with ADHD patients was significantly thinner than BECTS patients without ADHD. Our results showed that BECTS affects frontal, temporal, parietal and occipital lobes by cortical thinning. Our study supports the need for better characterization of patients with BECTS so identification of different phenotypes can occur. Further studies are needed to investigate the relationship between BECTS and ADHD.

Risk factors and motor outcome of paediatric stroke patients.

BACKGROUND: Childhood stroke causes significant morbidity and mortality. In this study, we aimed to define the presenting findings, causes, risk factors and motor outcomes of our patients. METHODS: We retrospectively analysed patients aged from 1 month to 18 years who were diagnosed as having the first onset of stroke between January 2006 and December 2015. Presenting features, causes, risk factors, recurrence rate and motor outcomes were recorded. Motor outcome was evaluated by the gross motor function classification system. RESULTS: Forty-seven children were included in the study. Thirty-eight (78.7%) children had an arterial stroke, 9 (19.1%) had a venous stroke. The median age at the time of presentation was 60 months (3-214). Thirty-two patients (68%) presented with a focal neurological sign and 9 presented with seizure (19.1%). Patients who had a venous stroke presented with more diffuse neurological symptoms than those who had an arterial stroke. At least one risk factor for stroke was identified in 74.5% of the patients; the most common causative factor was prothrombotic state seen in 16 patients (33.5%). Stroke recurred in 5 patients (10.6%); coexistence of multiple factors was a risk factor for recurrence. Presenting with seizure was not a facilitator for epilepsy. Thirty-two (68%) patients had a favourable motor outcome. Younger age (24 months versus 114 months) and presenting with focal neurological signs were related to non-favourable motor outcome. CONCLUSION: Our cohort demonstrates that most of the children had a risk factor for stroke and have had favourable motor outcome. However, younger age and presenting with focal seizures are related to non-favourable motor outcome.

Guillain-Barré syndrome in children: subtypes and outcome.

OBJECTIVE: This study reviews the clinical features, subtypes, and outcomes of childhood Guillain-Barré syndrome (GBS). METHODS: Fifty-four children who attended a tertiary care training and research hospital in Turkey were enrolled in the study. RESULTS: The mean age was 6.5 ± 4.2 years and 32 patients (59.5%) were male. The most common subtype of GBS was acute inflammatory demyelinating polyneuropathy (AIDP), which was seen in 27 patients (50%). Having antecedent history, especially upper respiratory tract infection was significantly more common in AIDP (P = 0.028). Sensorial symptoms were significantly more frequent in axonal type GBS (P = 0.001). When we compare the demyelinating and axonal forms, all of the groups had favorable outcome. CONCLUSION: The diagnosis of pediatric GBS can be delayed because of its variable presentation. Early admission to hospital and early treatment are important for decreasing the need for respiratory support and improving the outcome.

Childhood peripheral facial palsy.

OBJECTIVE: The objectives of this study were to evaluate the demographic and clinical characteristics, causes, treatment patterns, outcome, and recurrence of childhood peripheral facial palsy. METHODS: We performed a retrospective study of 144 peripheral facial palsy patients, under 18 years old in a tertiary care pediatric hospital. Medical charts were reviewed to analyze the age, gender, side of facial nerve paralysis, family history, cause, grading by the House-Brackmann Facial Nerve Grading Scale (HBS), results of diagnostic tests, therapies, outcomes, and recurrence. RESULTS: Causes were as follows: 115 idiopathic (Bell's palsy) facial palsy (79.9%), 17 infections (11.8%) (9 otitis media, 4 varicella zoster virus (VZV) infection, 3 tooth abscess, and 1 group A ß-hemolytic streptococcus infection), 7 trauma (4.9%), 4 congenital-syndrome (2.8%), and 1 (0.7%) arterial hypertension. There was no difference in age, sex, family history, grading, or outcome between idiopathic and cause-defined facial palsy. At the end of the first year, our recovery rates were 98.3%. No significant difference in recovery outcome was detected between the patients who were treated with and without steroid treatment. Thirteen (9%) patients had recurrent attacks, and no differences in the outcomes of patients with recurrent facial palsy were observed. Recurrence time ranged from 6 months to 6 years. CONCLUSION: The results of this study indicate that both Bell's palsy and cause-defined facial palsy in children have a very good prognosis. Medical treatment based on corticosteroids is not certainly effective in improving outcomes in children. Recurrent attacks occurred in 6 years from the onset which leads to the conclusion that we should have a long-term follow-up of patients diagnosed with Bell's palsy.

Susac's Syndrome (Retinocochleocerebral Vasculopathy): Follow-up of a Pediatric Patient.

Susac's syndrome (SS) is a triad of encephalopathy, branch retinal artery occlusion (BRAO), and sensorineural hearing loss as a result of microvascular occlusions of the brain, retina, and inner ear. It is also a disorder of autoimmune endotheliopathy. SS usually affects young women between the age of 20 and 40 years. SS can be misdiagnosed as multiple sclerosis (MS) or acute disseminated encephalomyelitis (ADEM) because of similar findings. A 15-year-old girl presented in June 2015 with vomiting and severe headache. Cerebral magnetic resonance imaging revealed multiple lesions in the corpus callosum. Cerebrospinal fluid findings gave normal results. The initial diagnosis was MS and steroid (1000 mg/day) was given. She started to describe hallucinations and became paraplegic. She then underwent plasmapheresis five times without response. Her electroencephalogram was diffusely slow with 2-3 Hz delta rhythm at the frontal regions. Audiological examination showed that she had sensorineural hearing loss in her left ear. Ophthalmologic evaluation revealed BRAO in both eyes. On the basis of these findings, she was diagnosed with SS and treated with intravenous immunoglobulin (IVIG) and aspirin. After monthly treatment with IVIG for 6 months, the patient has almost fully recovered. SS should be kept in mind in the differential diagnosis of MS and ADEM.

Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation.

Childhood leukoencephalopathies are a broad class of diseases, which are extremely rare. The treatment and classification of these disorders are both challenging. Nearly half of children presenting with a leukoencephalopathy remain without a specific diagnosis. Leukoencephalopathy with thalamus and brain stem involvement and high lactate (LTBL) is a newly described childhood leukoencephalopathy caused by mutations in the gene encoding a mitochondrial aminoacyl-tRNA synthetase specific for glutamate, EARS2 Magnetic resonance images show a characteristic leukoencephalopathy with thalamic and brain stem involvement. Here, we report a different clinical course of LTBL supported by typical MRI features in a Turkish patient who presented with a history of failure to walk. The EARS2 gene mutation analysis identified a c.322C>T transition, predicting a p.R108W change. This is the first reported early-onset mild type LTBL caused by a homozygous EARS2 mutation case in the literature.

Seizures in a Pediatric Intensive Care Unit: A Prospective Study.

BACKGROUND: The aim of the research is to determine the etiology and clinical features of seizures in critically ill children admitted to a pediatric intensive care unit (PICU). METHODS: A total of 203 children were admitted from June 2013 to November 2013; 45 patients were eligible. Age ranged from 2 months to 19 years. Seizures were organized as epileptic or acute symptomatic. Pediatric risk of mortality score III, Glasgow coma scale, risk factors, coexistent diagnosis, medications administered before admission, type and duration of seizures, drugs used, requirement and duration of mechanical ventilation, length of stay and neuroimaging findings were collected as demographic data prospectively. RESULTS: The male-female ratio was 0.8. Mean age was 5.4. The most common causes of seizures were acute symptomatic. Most frequent coexistent diagnosis was infectious diseases, and 53.3% had recurrent seizures. Medications were administered to 51.1% of the patients before admission. Seizures were focal in 21 (46.7%), generalized in 11 (24.4%) and 13 (28.9%) had status epilepticus. Intravenous midazolam was first-line therapy in 48.9%. Acute symptomatic seizures were usually new-onset, and duration was shorter. Epileptic seizures tended to be recurrent and were likely to progress to status epilepticus. However, type of seizures did not change severity of the disease. Also, laboratory test results, medications administered before admission, requirement and duration of ventilation, mortality and length of stay were not significant between epileptic/acute symptomatic patients. CONCLUSION: Seizures in critically ill children, which may evolve into status epilepticus, is an important condition that requires attention regardless of cause. Intensified educational programs for PICU physicians and international guidelines are necessary for a more efficient approach to children with seizures.

Leptin and ghrelin levels in children before and after adenoidectomy or adenotonsillectomy.

BACKGROUND AND AIM: Accelerated weight gain after (adeno)tonsillectomy has been reported in a number of studies. Whether (adeno)tonsillectomy is also a risk factor for development of overweight is unknown. We investigated serum leptin and plasma ghrelin levels before and 1 year after (adeno)tonsillectomy operation in children. MATERIALS AND METHODS: We studied 31 patients and 29 age- and sex-matched healthy control children. Auxologic evaluation and biochemical investigations were performed before surgery and 1 year later. RESULTS: One year after surgery, height SDS (p = 0.001) and weight SDS (p = 0.004) were significantly increased in both groups. No changes in BMI SDS (p = 0.105) were observed. Preoperative leptin levels were significantly higher in patients than controls (p < 0.001). IGF-1, IGFBP-3, HOMA-IR and ghrelin values were not significantly different between the groups. One year after surgery, IGF-1 (p = 0.001) and IGFBP-3 (p = 0.001) were significantly increased, while ghrelin (p < 0.001) was significantly decreased. Postoperative leptin levels of patients were also significantly higher than preoperative values (p = 0.036). CONCLUSION: Significantly higher leptin levels in patients compared to control both before and 1 year after an obstruction-relieving surgery suggested that higher levels might be due to leptin resistance in these patients. Based on our findings we recommend measurement of leptin levels longitudinally for at least 5 years after adenotonsillectomy.