Anastasia Gkampeta

Facial nerve palsy in childhood

Facial nerve palsy in children is usually idiopathic but can also result from many conditions such as neoplasias, systemic diseases, or congenital anomalies with poor prognosis. Children with idiopathic facial palsy (Bells palsy) have a very good prognosis, while treatment with prednisone does not certainly improve the outcome. The causes of facial nerve palsy in childhood differ from those in adults. A detailed investigation and differential diagnosis are recommended for facial palsy in children.

Learning disorders in children with epilepsy

IntroductionLearning Disorders (LD) are defined as disorders that interfere with academic performance or with daily activities that require reading, writing or mathematical skills in subjects with a normal intelligence quotient (IQ). The prevalence of LD in the general population has been found to be 2–10%, and reading disorders are the most frequent subtype. Epilepsy is one of the most common serious neurological disorders in childhood. LD are more common in children with epilepsy than in the general population. As a consequence, the risk of cognitive impairment in children with epilepsy is high, and a review of the literature needs to be fully presented.MethodsNarrative review including articles regarding LD in children with various epileptic syndromes published in the international medical literature.ResultsLD are more frequent among children with epilepsy. The etiology is multifactorial, being affected by the type of epileptic syndrome, the age of onset and the antiepileptic treatment being selected. LD can be either permanent or state-dependent. Each category has different treatment protocols and prognosis.ConclusionsDespite the fact that the findings of the studies discussed in our article support the evidence that epilepsy in childhood impairs the cognitive function, we should not underestimate the role of demographic and psychosocial factors on academic performance of children with epilepsy. Despite the high prevalence of LD, a healthy family and school environment can help reduce its impact on the patients quality of life.

Association of brain-derived neurotrophic factor (BDNF) and elongator protein complex 4 (ELP4) polymorphisms with benign epilepsy with centrotemporal spikes in a Greek population.

PURPOSE Benign epilepsy with centrotemporal spikes (BECTS) is considered to be the most common childhood epileptic syndrome. Different mutations in genes that control the excitability of neurons have been described. Recent reports on the involvement of the BDNF and ELP4 genes in cell motility, migration, and adhesion raise the possibility that these genes are involved in pathogenesis of BECTS. MATERIALS AND METHODS We conducted a case-control association study on 60 patients with BECTS and 60 control participants to assess the influence of the BDNF and ELP4 polymorphisms on BECTS. The polymorphisms were detected with a PCR-RFLP method. Moreover, we explored the possible association of these polymorphisms with clinical and electroencephalographic parameters of patients with BECTS. RESULTS Our results show no difference in BDNF and ELP4 genotype frequencies between patients and controls. Haplotype analysis also revealed no statistical difference. CONCLUSION The role of BDNF and ELP4 polymorphisms remains controversial.

Emerging genetic influences in benign epilepsy with centro-temporal spikes – BECTS

BECTS is considered to be the most common childhood epileptic syndrome. Multifactorial inheritance is the most important model accounting for the genetic behavior of the common epilepsies. In recent years, different mutations in genes that control the excitability of neurons have been described. Recent reports on the involvement of the BDNF and ELP4 genes with possible roles in cell motility, migration, and adhesion have provided first insights into the complex molecular bases of childhood focal epilepsies. However, in the most common idiopathic benign childhood epilepsies (BECTS and occipital epilepsies), major breakthroughs are still awaited.

Valproate effect on ketosis in children under ketogenic diet

INTRODUCTION Although ketogenic diet has been proven useful in the management of intractable seizures, interactions with other medicines have been reported. This study reports two patients on co-administration with ketogenic diet and valproate appearing undesirable side effects after increase or decrease of valproate pharmaceutical levels. METHODS Totally 75 patients suffering from drug-resistant epilepsy were treated with ketogenic diet in our departments. Their age varied from 6 months to 9 years. All patients were followed for at least 12 months and up to five years. Clinical and laboratory variables have been regularly assessed. RESULTS In 75 patients treated with ketogenic diet and valproate at the same time treatment was well tolerated. Two patients presented mild to moderate undesirable effects. In these patients the removal of valproate treatment resulted in an increase of ketosis with respective clinical signs. The conversion of the diet from 4:1 to 1:1 and 2,5:1 respectively resulted in reduction of ketosis and clinical improvement. CONCLUSION In the majority of cases co-administration of valproate and ketogenic diet seems to be safe. In two cases, valproate appeared to have a negative effect on ketosis (and weaning it led to over-ketosis). This interaction is worthy of future study.

Infantile Spasms (West Syndrome) in Children With Inborn Errors of Metabolism: A Review of the Literature

West syndrome (infantile spasms) is an epileptic encephalopathy that includes psychomotor deterioration. In rare cases, it is due to an inherited, progressive metabolic disease. More than 25 inborn errors of metabolism have been considered etiologic or predisposing factors for infantile spasms. This is a review of the literature on reported cases of children diagnosed with a metabolic disease who developed infantile spasms. This article presents in brief the most frequent inborn errors of metabolism that have been associated with West syndrome and also illustrates the importance of screening for inborn errors of metabolism in infantile spasms.

An Infant With Ethylmalonic Encephalopathy Masquerading as a Hematologic Disorder

A 4-month-old male infant was brought to the emergency department because of striking petechial skin lesions and acrocyanosis. Routine hematology revealed leukocytosis and thrombocytosis and the infant was admitted for further investigations. Laboratory findings showed no evidence of infection, and a bone marrow aspirate demonstrated a normal number of immature cells of all lineages. Coagulation and routine biochemistry analyses were within the normal range. Three months later, the infant developed signs and symptoms of encephalopathy with episodes of hypotonia and an altered state of consciousness. A brain magnetic resonance imaging suggested the possibility of an inborn error of metabolism. The urinary organic acid and acylcarnitine profile indicated ethylmalonic encephalopathy. Mutation analysis of the ethylmalonic encephalopathy 1 (ETHE1) gene confirmed the diagnosis of ethylmalonic encephalopathy at the molecular level.

Benign epilepsy with centrotemporal spikes: Relationship between type of seizures and response to medication in a Greek population

Purpose: Benign epilepsy with centrotemporal spikes (BECTS) is considered to be the most common childhood epileptic syndrome. We studied the relationship between the type of seizures and response to medication in a Greek population. Materials and Methods: We studied 60 neurodevelopmentally normal children diagnosed with BECTS. Children were subdivided into three groups, based on type of seizures: Group A comprised 32 children with generalized tonic-clonic seizures, Group B 19 children with focal seizures and Group C 9 children with focal seizures with secondary generalization. All patients in the present study were started on an antiepileptic medication after the third seizure (sodium valproate, carbamazepine, and oxcarbazepine), and we studied the response to medication. Results: 10 from 13 (76.92%) of patients in Group A, 13 from 15 (86.66%) patients in Group B, and all 6 patients (100%) in Group C started carbamazepine or oxcarbazepine had a favorable respond. Similarly, 16 from 19 (84.2%) of patients in Group A, 3 from 4 patients (75%) in Group B, and 1 from 3 patients (33.3%) in Group C, started sodium valproate responded well to medication. Conclusions: The majority of children responded well to the first antiepileptic treatment and had a favorable outcome, regardless of type of seizures. 88.3% of children became seizure free by 1 or 2 years after seizure onset. These findings are indicative that the type of seizures has no major effect neither in response to antiepileptic treatment or in the final outcome. Further research in a larger number of children is needed.

Ischemic cerebral infarction in a 5-year-old male child with neurofibromatosis type 1

Stroke is a common cause of neurological disease in children and ranks in the top ten causes of death in the USA, with poor outcome and neurological deficits for the survivors. The annual incidence of pediatric stroke is estimated from 1.3 to 13 cases out of 100,000 population [1]. The broad definition of pediatric stroke includes ischemic and hemorrhagic stroke. In childhood, 55 % of stroke is ischemic and 45 % hemorrhagic, whereas in adults, 85 % of stroke is ischemic [2]. According to the World Health Organization, “ischemic stroke” is a clinical syndrome of rapidly developing focal or global disturbance of brain function lasting more than 24 h or leading to death, caused by arterial or venous infraction (thrombosis or embolism) [3]. Arterial ischemic/hemorrhagic strokes in children usually concern anterior and middle cerebral arteries and their brunches, as also the thalamus and basal ganglia [1]. Children with stroke usually present with hemiparesis, sensory disorders (hemianesthesia), and visual disturbance (hemianopia). Headache is usually present with hemorrhagic stroke, post-traumatic arterial thrombosis, and venous thrombosis. Altered levels of consciousness indicate intracranial hemorrhage, ischemic infarction of the middle cerebral artery, or extensive infarct in the posterior circulation. Seizures mainly occur in cerebral venous sinus thrombosis, most frequently in the neonatal period. Acute onset of clinical presentation usually indicates embolism or acute thrombosis due to posttraumatic rupture of the arterial endothelium, while subacute onset of clinical presentation usually indicates progressive thrombosis [4, 5]. Generally, clinical presentation of pediatric stroke is age dependent. It is also varied and nonspecific, encompassing a broad differential diagnosis. So, the diagnosis of stroke in childhood is often delayed and is rarely made within 6 h of symptom onset [6]. We describe a case of a 5-year-old male child who presented to our clinic with acute right pyramidal tract signs. The aim of this case presentation is to point out the importance of early recognition of pediatric stroke and also to discuss the possible association of neurofibromatosis type 1 (NF1) with intracranial arterial anomalies and problems of blood coagulation.

Ketosis and EEG improvement following viral gastroenteritis in patient with West syndrome.

Epileptic seizures generally become more serious following infections. However, in rare cases epileptic seizures, mostly in patients with West syndrome, disappear or decrease in severity after viral infection [1–3]. As Fujita et al. mention in their article entitled “Improvement of intractable childhood epilepsy following acute viral infection”, published in Brain & Development 33 (2011) 62–68, few studies have investigated the clinical manifestations or the changes in electroencephalogram (EEG) from prior to the viral infection to the resolution of epileptic seizures. The exact mechanism by which viral infection affects pathophysiology of epileptic activity is still unknown. In the same article by Fujita et al. possible mechanisms are explained [4]. We report an 11 months old female infant, with negative family history, diagnosed with West syndrome whose clinical presentation and electroencephalogram findings improved following viral gastroenteritis. Brain MRI and metabolic screening were normal. The figures show the two EEGs (before and after the infection) indicative of improvement (see Figs. 1 and 2).