Cerebellar Hypoplasia and Treatment Course of a Two-Month-Old Infant With KCNQ2 Epileptic Encephalopathy Due to a De Novo Variant and Review of the Literature.

In this paper, we report the treatment course, magnetic resonance imaging (MRI), and electroencephalography (EEG) findings of a two-month-old girl with KCNQ2 epileptic encephalopathy caused by a de novo variant. The patient started having seizures 2 days postnatally. Despite treatment with phenobarbital, phenytoin, levetiracetam, topiramate, clonazepam, vigabatrin, clobazam, and pyridoxine, she continued to have 10 or more seizures per day. EEG recordings showed multifocal epileptiform discharges with diffuse background slowing. MRI revealed left cerebellar hypoplasia. After lacosamide administration, the severity and frequency of seizures decreased by 80%. EEG recordings showed a significant improvement. A de novo heterozygous variant of c.1681C>A (p.Pro561Thr) in the KCNQ2 gene was detected. After carbamazepine add-on treatment, the patient achieved seizure-free status for about 2 years. This case demonstrates the efficacy of lacosamide against KCNQ2 epileptic encephalopathy. To our knowledge, this is the first report to document the association between cerebellar hypoplasia and KCNQ2 variants.

Evaluation of state and trait anxiety levels of parents and children before electroencephalography procedures: A prospective study from a tertiary epilepsy center.

BACKGROUND: Inadequate or misinformation about electroencephalography (EEG) and epilepsy may lead to anxiety in children and their parents. The purpose of this study was to make a simultaneous evaluation of the anxiety levels of children and parents before EEG procedures and to make a brief assessment of their knowledge about EEG. METHODS AND MATERIALS: Children aged between 8 and 18 years who were referred for EEG tests at Department of Pediatric Neurology, Gazi University Faculty of Medicine, Ankara, Turkey and their parents were included in the study, prospectively. Data were collected through Personal Information Forms; an EEG questionnaire form, which questioned the knowledge of the participants about EEG; the Spielberger's State-Trait Anxiety Inventory (STAI) to determine anxiety levels of the parents; and the State-Trait Anxiety Inventory for Children-State form (STAIC) to determine the anxiety levels of the children. The following parameters were collected in a database: demographic data about children and parents (sex, age), indication of suspected diagnosis on EEG request (i.e., the referral diagnosis), history of epilepsy, number of EEG recordings, and results of previous EEG recordings. The state and trait anxiety test results of the children were compared between the girls and boys, between age groups, and their parents' results in terms of both trait and state anxiety in terms of EEG, sex, ages, educational levels, and working. RESULTS: Eighty-five children (mean age: 13.25 ±â€¯3.02 years) and 85 parents (mean age: 41.16 ±â€¯7.65 years) were included in the study. The children's mean trait anxiety score was 32.51 ±â€¯8.09, and the mean state anxiety score was 34.97 ±â€¯7.62. Half of the children who had a trait anxiety score of ≤30 points had increased state anxiety levels because they received more than 30 points in the state anxiety evaluation score. No significant differences were found between the boys and girls in terms of the state and trait anxiety scores (p > 0.05). The parents' mean trait anxiety score was 39.16 ±â€¯7.74, and the mean state anxiety score was 42.74 ±â€¯6.22. Forty (47%) parents were found to have trait anxiety, and 52 (61.2%) parents had state anxiety before the EEG. The trait anxiety score of the mothers was statistically significantly higher than that of the fathers (p < 0.01). The investigation of the knowledge level of both parents and children about EEG demonstrated some misunderstandings or points of insufficiency. CONCLUSION: The present study revealed that both parents and children had insufficient knowledge about EEG, and the procedure caused anxiety for both the parents and children. When EEG procedures are requested, parents and children should be given brief information about EEG and epilepsy. We think that in this way, the knowledge of both parents and children about this issue may be increased and their anxiety may be decreased.

The Prevalence, Risk Factors and Cardiometabolic Complications of Obesity in Childhood Survivors of Acute Lymphoblastic Leukemia.

Prevalence, risk factors and metabolic complications of overweight/obesity (OW/OB) are not well described in the childhood survivors of acute lymphoblastic leukemia (ALL). Longitudinal changes in body mass index-z score (BMIz) from diagnosis to the last follow-up visit after the end of treatment were evaluated in 73 children at first complete remission. Of them, 40 were tested for adipokine profiles at visit. The mean BMIz increased gradually from diagnosis (0.07 ± 1.68) to the end of dexamethasone containing reinduction therapy (0.70 ± 1.48, P:0.007), followed by a fall at the end of treatment (0.15 ± 1.24) and a rise again at visit (0.40 ± 1.23, P:0.007). OW/OB percentage of 15% at diagnosis, increased to 35% at visit (p < 0.05). Post-treatment OW/OB in survivors was related with being OW/OB at diagnosis (OR 5.4, 95% CI [0.94-31.7]; P = 0.02) and after dexamethasone containing reinduction therapy (OR 5.1, 95% CI [1.1-21.4]; P = 0.05), but not with age at diagnosis, gender, treatment intensity and cranial irradiation. Metabolic syndrome (MetS) was more prevalent in survivors (13%) than in Turkish children (2%). As compared with controls, survivors had higher leptin level (8.1 ± 8.6 vs 3.2 ± 2.2 ng/ml, P = 0.01) and leptin/adiponectin ratio (2.1 ± 3.5 vs 0.6 ± 0.5, P = 0.03). Leptin/adiponectin ratio was correlated with HOMA-IR (r: 0.57, P = 0.001). The prevalence of OW/OB and MetS are elevated in the childhood survivors of ALL. Post-treatment OW/OB in survivors is related with OW/OB at diagnosis and dexamethasone containing therapy. Elevated leptin level and leptin: adiponectin ratio may serve as an early sign of metabolic derangement increasing the risk for early cardiovascular disease.

Interplay between carotid artery dissection and thrombophilia leading to ischaemic stroke after minor head trauma in an adolescent: a case report.

Stroke in children is more common than is often realised; there are numerous potential causes, including carotid artery injury resulting from minor head or neck trauma, as well as genetic conditions associated with thrombophilia. A 13-year-old boy suffered an arterial ischaemic stroke (AIS) secondary to dissection of the left internal carotid artery (ICA) after he headed the ball during a game of football. He presented with generalised tonic-clonic seizure, loss of consciousness, right-sided hemiplegia and aphasia. Neuroradiological imaging showed left caudate, putaminal and posterior insular ischaemic infarct secondary to complete occlusion of the left ICA and accompanying partial left middle cerebral artery occlusion. He was treated with anticoagulant and anti-aggregant agents. Rarely, minor head trauma can result in internal carotid artery dissection, thrombus formation and arterial occlusion, leading to arterial ischaemic stroke. Prompt diagnosis and management are crucial to achieve a good neurological outcome.Abbreviations: AIS: arterial ischaemic stroke; ANA: anti-nuclear antibody; APA: anti-phospholipid antibody; APTT: activated partial thromboplastin time; CAD: carotid artery dissection; CCAD: cranio-cervical artery dissection; CRP: C-reactive protein; CT: computed tomography; CTA: computed tomography angiography; dsDNA: double-stranded DNA; ESR: erythrocyte sedimentation rate; ICA: internal carotid artery; LA: lupus anticoagulant; MCA: middle cerebral artery; MRA: magnetic resonance angiography; MRI: magnetic resonance imaging; MTHFR: methylenetetrahydrofolate reductase; PT INR: prothrombin time international normalised ratio.

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.

Internal carotid artery dissection without intracranial infarct following a minor shoulder trauma: The second pediatric case and review of the literature.

INTRODUCTION: Carotid artery dissections may occur in severe trauma such as motor vehicle accidents or may also develop due to minor trauma. We aimed to present a case with internal carotid artery dissection that referred to the pediatric neurology department due to speech impairment after minor shoulder trauma. CASE: A previously healthy 10-year-old male patient was admitted to the pediatric emergency clinic due to headache, vomiting and speech impairment. In his story, we learned that he had bumped shoulder to shoulder with his friend about 6 h ago. He did not fall or hit his head. On his admission he could not speak and had right central facial paralysis. There was no infarct or diffusion limitation in MRI but MR angiography showed thinning in left internal carotid artery calibration. Fat-suppressed, non-contrast T1-weighted MRI showed that the left carotid artery had ring-shaped pathological signal changes. Low-molecular-weight heparin therapy was initiated with the diagnosis of carotid artery dissection (CAD). No hemiparesis or hemiplejia occurred in the follow-up of the patient. Within a few days, his speech improved. At the end of the first month, facial paralysis completely recovered. CONCLUSION: In carotid artery dissections, prodromal symptoms such as transient ischemic attack, like in our patient, are rarely present in children. For good long term outcomes, it is very important to suspect, diagnose and initiate appropriate treatment in a rapid manner in carotid artery dissection before severe neurological findings such as acute ischemic stroke develops.