Evangelos Pavlou

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.

Branched Chain Amino Acids as Adjunctive Therapy to Ketogenic Diet in Epilepsy: Pilot Study and Hypothesis

A pilot prospective follow-up study of the role of the branched chain amino acids as additional therapy to the ketogenic diet was carried out in 17 children, aged between 2 and 7 years, with refractory epilepsy. All of these patients were on the ketogenic diet; none of them was seizure free, while only 13 had more or less benefited from the diet. The addition of branched chain amino acids induced a 100% seizure reduction in 3 patients, while a 50% to 90% reduction was noticed in 5. Moreover, in all of the patients, no reduction in ketosis was recorded despite the change in the fat-to-protein ratio from 4:1 to 2.5:1. Although our data are preliminary, we suggest that branched chain amino acids may increase the effectiveness of the ketogenic diet and the diet could be more easily tolerated by the patients because of the change in the ratio of fat to protein.

Tumour necrosis factor gene polymorphisms and migraine in Greek children.

Introduction Migraine is considered to be a multifactorial, complex disease. Various genetic and environmental factors contribute to the manifestation of this disease. The aim of this study was to determine whether polymorphisms in the tumour necrosis factor (TNF) region are associated with the risk of migraine. We examined the association between 6 single nucleotide polymorphisms in the coding regions of TNF-α and TNF-β genes and migraine. Material and methods The study included two groups of children (group A and group B). Group A consisted of 103 unrelated children with typical migraine without aura 5–14 years of age. Group B (control group) consisted of 178 unrelated healthy children. The diagnosis of migraine was, in all patients, made according to the International Classification of Headache Disorders (ICHD II). Results According to our results positive family history was present in 62.2% of patients of group A. No significant differences were found in the frequencies of genotypes or alleles between patients and controls. The non-parametric analyses of variance showed no significant differences in the age at onset between genotype groups of the TNF-α and TNF-β gene polymorphisms. Comparison of genotype frequencies between boys and girls in affected patients and control individuals were not significantly different (p = 0.089, p =0.073 respectively). The distribution of TNF polymorphisms was not associated with the presence of family history of migraine in patients. Conclusions Our data indicate that TNF-α and TNF-β gene polymorphisms are not a significant risk factor for migraine without aura in Greek children.

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.

Posterior reversible encephalopathy syndrome in Henoch-Schonlein purpura induced by oral steroid therapy and hypertension

An 11-year-old boy with Henoch-Schonlein purpura complicated by hypertension-induced encephalopathy is reported. Steroid therapy (oral prednisolone 2 mg/kg per day) was started immediately after diagnosis because of gastrointestinal involvement. A few days later the patient developed hypertension followed by generalized tonic-clonic seizures. A peripheral lesion in the posterior gray and white matter was seen on magnetic resonance imaging. The nature and location of the lesions and the normalization of the patients magnetic resonance imaging reported a few months later was consistent with a posterior predominant parieto-occipital encephalopathy described in the literature as posterior reversible encephalopathy syndrome. The occurrence of this very rare syndrome in childhood requires close monitoring and normalization of blood pressure in patients in order to prevent central nervous system manifestations.

Lumbar puncture complicated by spinal epidural hematoma in a child with leukemia

We report a case of spinal epidural hematoma (SEH) preceded by diagnostic lumbar puncture (LP) in a 5‐year‐old boy with acute lymphoblastic leukemia. MRI confirmed the presence of SEH between T7 and L5 levels, but the patient showed fast recovery during the next hours and conservative management was elected.