How do children with drug-resistant epilepsy sleep? A clinical and video-PSG study.

AIM: The aim of this study was to assess sleep architecture and sleep problems among three homogenous groups of children including children with drug-resistant focal epilepsy, children with newly diagnosed, drug-naïve focal epilepsy, and healthy children using overnight video-polysomnography (V-PSG) and a sleep questionnaire. METHODS: We compared sleep architecture among 44 children with drug-resistant focal epilepsy, 41 children with newly diagnosed, drug naïve focal epilepsy, and 36 healthy children. All children underwent an overnight V-PSG recording, and their parents completed the Children's Sleep Habits Questionnaire (CSHQ). Sleep recordings were scored according to the American Academy of Sleep Medicine criteria. RESULTS: Compared with children with newly diagnosed epilepsy and healthy controls, children with drug-resistant epilepsy receiving antiepileptic treatment showed disturbed sleep architecture, a significant reduction in time in bed, total sleep time, sleep efficiency, NREM3%, REM%, and a significant increase in awakenings, wake after sleep onset, and periodic leg movement. Children with drug-naïve, newly diagnosed focal epilepsy showed a statistically significant increase in sleep onset latency, rapid eye movement (REM) latency, N1%, awakenings, and a significant decrease in time in bed when compared with the controls. Children with drug-resistant epilepsy had the highest CSHQ total scores, while children with drug-naïve, newly diagnosed focal epilepsy had higher scores than healthy children. CONCLUSION: This is one of the few polysomnographic studies adding to the limited research on the sleep macrostructure of children with drug-resistant epilepsy compared with children with drug-naïve, newly diagnosed focal epilepsy and healthy children by obtaining objective measurements of sleep concurrently with a validated questionnaire. Children with drug-resistant epilepsy had a greater incidence of sleep disturbance on the basis of qualitative aspects and architecture of sleep than children with newly diagnosed epilepsy, suggesting the need for referral of children with drug-resistant epilepsy for overnight sleep evaluation in order to improve the clinical management and optimize therapeutic strategies.

A rare case of pontine and extrapontine myelinolysis in a pediatric patient with chronic renal failure.

Osmotic demyelination syndrome (ODS) is a very rare condition in childhood occurring usually secondary to the rapid increase of serum sodium levels. This situation occurring secondary to the rapid correction of hyponatremia can be seen more rarely in the form of extrapontine myelinolysis and even the coexistence of these two conditions besides central pontine demyelinolysis. However, osmotic demyelination syndrome due to the rapid correction of hyponatremia in chronic renal failure (CRF) patients is very rare depending on existing uremia. In this article, we present an extremely rare case of pontine and extrapontine myelinolysis, which occurred in a pediatric patient with chronic renal failure, secondary to the rapid correction of hyponatremia. In the diffusion and cranial magnetic resonance imaging (MRI), bilateral symmetrical caudate, putamen, and thalamus involvements and hyperintense linear lesions at the pons, cortical, and subcortical areas were revealed. It was evaluated as pontine and extrapontine myelinolysis. This clinical situation presents that the presence of severe hyponatremia and extremely rapid correction of it can develop pontine and extrapontine myelinolysis even though it is very rare in uremic patients.

Pediatric anti-NMDA receptor encephalitis associated with COVID-19.

Anti-N-methyl-D-aspartate receptor encephalitis is a clinical condition characterized by acute behavioral and mood changes, abnormal movements, autonomic instability, seizures, and encephalopathy. We describe a 7-year-old boy diagnosed with autoimmune encephalitis due to NMDAR antibody in association with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) (coronavirus disease 2019) (COVID-19), without pulmonary involvement or fever. The patient presented with acute ataxia, rapidly developed encephalopathy, and autoimmune encephalitis was suspected. Steroid treatment was withheld because of lymphopenia and intravenous immunoglobulin was started. The absence of clinical response prompted plasmapheresis and, when lymphocyte counts improved, pulse steroid treatment was applied. The latter was followed by significant improvement and the patient was discharged in a conscious and ambulatory state. Autoimmune encephalitis should be considered in the presence of neurological symptoms accompanying SARS-CoV-2 infection and steroid treatment should be preferred unless limited by contraindications.

Short-Term and Long-Term Effects of Levetiracetam Monotherapy On Hematological Parameters in Children with Idiopathic Epilepsy.

Objectives: Levetiracetam (LEV) is a broad-spectrum anti-seizure drug (ASD) that has been widely used in recent years. It is thought to have an effect on the release of neurotransmitters that occur as a result of vesicle fusion and exocytosis by binding to synaptic vesicle glycoprotein 2A. Methods: The study enrolled patients diagnosed in the Pediatric Neurology Outpatient Clinic who were being followed with the diagnosis of childhood idiopathic epilepsy and were receiving LEV as ASD monotherapy. Sixty-four patients with complete blood count data from the pretreatment (Pre-T) period, the short-term period of 3 to 6 months after treatment (Post-TS), and the long-term period after 12 months (Post-TL) were included in the study. The demographic data of the patients included in the study were retrospectively analyzed for seizure frequency, seizure type, initial and subsequent EEG results, starting date of the treatment, and complete blood count data. Results: Of 64 patients, 36 were male and 28 were female. The mean age of patients was 8.7±3.8 (2.5-16) years. In the whole population, post-TL lymphocyte counts were found to be decreased compared to pre-TL lymphocyte counts. This decrease was statistically significant for patients over 6 years of age (n=46) (p<0.075). In the post-TL period, hematocrit, hemoglobin, mean corpuscular volume, and mean platelet (PLT) volume increased, while white blood cell, PLT, neutrophil, and monocyte counts decreased (p<0.05). Seizure-free status was achieved in 92.2% of cases. Frequent seizures were observed only in five patients who were older than 6 years. Pre-treatment EEG findings were normal for 15 (23.4%) patients, generalized for 8 (12.5%) patients, and focal for 41 (64.1%) patients. According to the pretreatment EEG findings, all of the patients with improvement in EEG were those whose findings were focal (p<0.001). Conclusion: In children with idiopathic epilepsy, long-term LEV monotherapy may cause significant changes in hematological parameters. LEV seems to have effects on the counts and perhaps functions of PLTs, lymphocytes, monocytes, and neutrophils, particularly in the long-term.

Acute necrotizing encephalopathy associated with RANBP2 mutation: value of MRI findings for diagnosis and intervention.

INTRODUCTION: Acute necrotizing encephalopathy (ANEC) is a rare entity characterized by encephalopathy following a febrile illness. Most patients are sporadic; however, recurrent and familial cases have been associated with RAN-binding protein 2 (RANBP2) mutation. Well-defined MRI findings can even be life-saving with early diagnosis and treatment. METHODS: In this article, nine pediatric cases diagnosed with ANEC1 both clinically and radiologically, and with least one variation in the RANBP2 gene, are presented. RESULTS: All patients were previously healthy and presented with encephalopathy after an acute febrile infection. The patients of 44% had a similar attack history in their family. Influenza A/B was detected in 7 patients (78%). One patient was admitted at age 32 years old. The first clinical findings of patients were encephalopathy (100%), seizure (44%), vision problems (33%), ataxia (11%), and monoplegia (11%). Recurrent attacks were seen in two (22%) patients. Brain MRI findings including bilateral thalamus, external capsules, and brainstem involvements were highly suggestive for RANBP2 mutation. Based on MRI findings, genetic analyses were quickly performed and confirmed. All of the patients were treated with empirical encephalitis treatment, oseltamivir, intravenous immunoglobulin (IVIG), high-dose steroid and, if necessary, plasmapheresis, but three (33%) patients died despite treatment. CONCLUSION: ANEC associated with RANBP2 mutation may occur early or late-onset and can be recurrent and fatal. Therefore, early diagnosis and treatment have the potential to modify the severity of this encephalopathy. Well-defined MRI findings are highly instructive for early diagnosis.

Effects of antiepileptic drugs on dynamic thiol/disulphide homeostasis in children with idiopathic epilepsy.

PURPOSE: Anti-epileptic drugs have been widely used in children with epilepsy. Although several studies have investigated the role of oxidative stress and the effects of antiepileptic drugs on several oxidative markers in epilepsy, adequate information is not available on this issue. This study aimed to investigate the changes in thiol disulphide homeostasis in children with epilepsy under two commonly prescribed AED monotherapies, carbamazepine and valproic acid. METHODS: A hundred and one children with epilepsy using valproic acid or carbamazepine and 58 healthy children were included in this study. Of the 101 patients with idiopathic epilepsy, 58 were on valproic acid monotherapy and 43 patients were on carbamazepine monotherapy. The total thiol, native thiol, and disulphide levels were measured and the disulphide/native thiol, disulphide/total thiol and native thiol/total thiol ratios were calculated in both groups. RESULTS: The total thiol and native thiol levels of the valproic acid treated group were significantly lower than the control group (p < 0.05). The native thiol level of carbamazepine treated group was lower than the control group without a significance (p = 0.123). Disulphide level, disulphide/native thiol and disulphide/total thiol ratios were significantly higher and native thiol/total thiol ratio was significantly lower in both valproic acid and carbamazepine treated group compared with the control group. CONCLUSION: Thiol/disulphide homeostasis is impaired in children with idiopathic epilepsy using valproic acid or carbamazepine. Valproic acid which is frequently used in childhood epilepsy may modify this balance more than carbamazepine monotherapy. More importantly, the new method used in our study proposes a promising, practical and daily applicable test for evaluating oxidative stress in these patien.

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.

A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I.

BACKGROUND: Tyrosinemia type I is an autosomal recessively inherited metabolic disease of tyrosine metabolism due to the deficiency of fumarylacetoacetate hydrolase. Clinical manifestations include hepatic failure, cirrhosis, hepatocellular carcinoma, renal fanconi syndrome, and neurologic crisis. With the introduction of 2-(2-nitro-4-trifluoro-methylbenzyol)-1.3 cyclohexanedione (NTBC) treatment, the prognosis improved with reduced rate of complications. CASE REPORT: Here, we report a 6-year-old girl with tyrosinemia type I who discontinued NTBC treatment six months prior to admission, presenting with complaints of abdominal pain, vomiting, anorexia, weakness, and restlessness, suggesting the clinical status of neurologic crisis. Further laboratory and radiologic evaluation revealed that indeed this is a pancreatitis. CONCLUSION: We report this case as tyrosinemia type I and pancreatitis was reported only in one case in the literature, emphasizing confusing clinical signs of neurological crisis, and pancreatitis in tyrosinemia type I.