Evangelos Pavlou

Purpose Antiseizure medications (ASM) have long been examined for their potential to induce thyroid dysfunction. The aim of this systematic review and meta-analysis was to assess the prevalence of thyroid disease in children up to 16 years receiving monotherapy with valproate (VPA), carbamazepine (CBZ) and levetiracetam (LEV). Methods PubMed/MEDLI...

Hydrocephalus is one of the most common clinical conditions affecting the central nervous system, with an incidence of congenital hydrocephalus of 3–4 per 1,000 births. Placement of a ventriculoperitoneal shunt (VPS) is an established treatment to regulate the drainage of cerebrospinal fluid (CSF) in hydrocephalus, but several complications may occ...

Background: Promising genetic treatments targeting the molecular defect of severe early-onset genetic conditions are expected to dramatically improve patients' quality of life and disease epidemiology. Spinal Muscular Atrophy (SMA), is one of these conditions and approved therapeutic approaches have recently become available to patients. Objectiv...

Charcot-Marie-Tooth 4C is characterized by early-onset, rapid progression, and mainly associated with SH3TC2 gene mutations. We reported a male patient carrying a novel heterozygous nonsense mutation in SH3TC2 gene along with a heterozygous known pathogenic mutation. Symptoms began at 15 months and by 14 years, he presented significant motor impair...

Background: Respiratory failure is the principal source of morbidity and mortality among patients with Duchenne muscular dystrophy exerting a negative influence on their total quality of life. The aim of this review is to provide systematically current literature evidence about the effects of different treatment options (available or under develop...

Background: In recent years advances in the field of pharmacogenomics have expanded the concept for more individualized treatments. Our aim is to provide literature data about the relationship between genetic polymorphisms and efficacy of antiepileptic drugs in children. Methods: Pubmed was used as the main medical database source. Only original...

Background Sleep undergoes changes from birth to adulthood, while sleep disorders are associated with various cognitive deficiencies in childhood. In parallel, prematurity is known to predispose to poor neurodevelopmental outcomes. Our aim is to provide literature data about factors influencing sleep in the premature infants and sleep outcomes in t...

Gogou M, Pavlidou E, Pavlou E, Papageorgiou T, Tragiannidis A, Giannopoulos A, Hatzipantelis E. Charcot-Marie -Tooth 1A concurrent with anaplastic ependymoma in a toddler: when an acute event unmasks a chronic condition. Turk J Pediatr 2019; 61: 428-430. We report a 14-month-old toddler admitted to the Pediatric Oncology Department after surgical r...

Background The aim of this study is to investigate through polysomnography sleep quality in children with rolandic epilepsy and compare sleep variables between these children and healthy controls. Methods Our study population included 15 children with rolandic epilepsy and 27 healthy children who underwent overnight polysomnography. Parameters abou...

Pelizaeus–Merzbacher disease (PMD) is a rare, X-linked disorder characterized by hypomyelination of the Central Nervous System due to mutations in the PLP1 gene. Certain mutations of the PLP1 gene correlate with specific clinical phenotypes and neuroimaging findings. We herein report a novel mutation of the PLP1 gene in two siblings with PMD associ...

Posterior reversible encephalopathy syndrome (PRES) is a rare clinical-radiological entity characterised by seizures, severe headache, mental status instability and visual disturbances. Hypertension is typically present. We report a case of a 13-year old boy with Burkitt lymphoma/leukaemia, who presented with posterior leukoencephalopathy 24 hours...

Background: Both sleep respiratory events (apneas, hypopneas, desaturations) and parasomnias consist frequent sleep problems in children with epilepsy. Studies have also shown that sleep apneas predispose to poor seizure control. Objective: Our aim is to investigate the possible relationship between parasomnias and sleep respiratory events in thes...

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. Metho...

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 subd...

Introduction: The aim of the study was to validate recently proposed algorithm 'Standardising early identification of Acute Kidney Injury' introduced by NHS England in a paediatric setting and to investigate recognition and management of AKI. This multi-centre national project was supported by UK Renal Registry and British Association for Paediatri...

Background: Sleep apneas have been correlated with poor seizure control in children with epilepsy. Although nocturnal hypercapnia may result from prolonged sleep apneas, its relation to seizure control hasn't been studied. Aims and objectives: Our aim is to compare values of end-tidal CO2 (ETCO2 )during sleep between children with epilepsy and heal...

Background: Sleep apneas have an increased prevalence among children with epilepsy with a possible effect on seizure control. Aims and objectives: Our aim is to compare phenotypical features of obstructive sleep apneas and hypopneas between children with epilepsy and healthy children. Methods: A total of 30 children with idiopathic epilepsy (mean a...

Active immunization of children has been proven very effective in elimination of life threatening complications of many infectious diseases in developed countries. However, as vaccination-preventable infectious diseases and their complications have become rare, the interest focuses on immunization-related adverse reactions. Unfortunately, fear of v...

Key Clinical Message 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.

Vincristine-induced neurotoxicity is an adverse effect commonly seen in pediatric patients treated for cancer. We hereby present a case of a 6-year-old boy with acute lymphoblastic leukemia, who developed bilateral eyelid ptosis 25 days after the last intravenous administration of vincristine (cumulative dose 14.2 mg i.e., 17.75 mg/m2). The boy was...

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 thes...

Objective: to review and analyze the etiology, management and outcome of facial palsy in children. Methods: retrospective study of 47patients of Northern Greece aged less than 15 years diagnosed with facial nerve palsy from 2000 to 2011. Results: a total of 47 patients (25 female, 22 male) with a mean age of 9 years were included. Causes of facial...

This article presents a short review of the literature concerning neurological complications of gastrointestinal disorders. These disorders include the following: inflammatory bowel diseases (ulcerative colitis, Crohn’s disease), celiac disease, H. Pylori infection, hepatitis C, Wilson’s disease, hepatic failure-liver transplantation, gastroenterit...

Idiopathic epilepsies and epileptic syndromes predominate childhood and adolescence epilepsy. The aim of the present study was to investigate the clinical course and outcome of idiopathic childhood epilepsy and identify variables determining both early and long-term prognosis. We followed 303 children with newly diagnosed idiopathic epilepsy aged 1...

Multiple sclerosis (MS) is considered as the major cause of acquired neurological insult in young adults and the most common demyelinating disease of the central nervous system (CNS). It is an inflammatory disease characterized by multiple areas of demyelination, rupture of the blood-brain barrier and diffused disorder of the white matter. MS is re...

Heterotopia is defined as a cluster of normal neurons in abnormal locations in the cerebral hemispheres. This neuronal migration disorder occurs during the gestation. Patients with periventricular nodular heterotopias typically demonstrate the clinical triad of localization-related epilepsy, normal intelligence and an isolated form of dyslexia affe...

Benign Partial Epilepsy with Centro temporal Spikes (Rolandic epilepsy) is considered to be the most common childhood epileptic syndrome. Most epileptic syndromes have a complex trait of inheritance. In recent years, different mutations in genes that control the excitability of neurons have been described. Recent reports on the involvement of the B...

Hot water epilepsy is a rare type of seizures, which belongs to reflex epilepsies and occurs while bathing. It is geographically distributed, mainly to India and Turkey. The differences among countries are attributed to bathing habits and genetic susceptibilities. It can present as an episode of altered or loss of consciousness accompanied by stari...

Glucose metabolism of children with drug-resistant epilepsy, controlled by antiepileptic drugs epilepsy, and first-time nonfebrile seizures was studied through the performance of an oral glucose tolerance test and through insulin, C-peptide, and glycosylated hemoglobin measurements. In the refractory epilepsy group, there were more abnormal oral gl...

Purpose: Rolandic epilepsy (RE) is one of the most frequent epileptic syndromes in children. ELP4 is a component of the elongator complex, involved in transcription and tRNA modification. The aim of this study was to investigate the possible effect of ELP4-Ear1 and ELP4-BsrGI genotypes to specific clinical characteristics of children with RE. Metho...

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 o...

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 ELP...

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 numbe...

Background and aim: Benign epilepsy with centro-temporal spikes (BECTS) is one of the most frequent epileptic syndromes in children. It is placed among the idiopathic localization-related epilepsies. However, the relationship between unilateral or bilateral localization of interictal stereotyped focal spikes on electroencephalogram (EEG) and the e...

Idiopathic acute transverse myelitis is a focal inflammatory disorder of the spinal cord of unknown etiology diagnosed according to established criteria. As it occurs rarely in children herein we report a case of a 4 year old boy who developed clinical and radiological manifestations of myelitis, 10 days after a recent respiratory tract infection....

Stroke in childhood ranks in the top ten causes of death, with high morbidity and high cost recovery for the survivors. We describe a case of a 5 year old male child who presented with acute right pyramidal tract signs. The child had multiple café au lait spots on the trunk, indicative Neurofibromatosis. From the initial laboratory testing, the blo...

Background and Aim: Benign epilepsy with centro-temporal spikes (BECTS) is one of the most frequent epileptic syndromes in children. It is placed among the idiopathic localization-related epilepsies. However, the relationship between unilateral or bilateral localization of interictal stereotyped focal spikes on electroencephalogram (EEG) and the ef...

letter to the editor-reply

The misdiagnosis of epilepsy in children is a major concern with medical and social implications. Various Non- Epileptic paroxysmal events, motor or sensory, often mimic seizures and create a confusion in differential diagnosis. The differential diagnosis of these events from seizures is usually very difficult, because they have many symptoms in co...

In recent years, the concept of an immunological background of some types of epilepsy has been gaining an increasing number of supporters. This is implied by the fact that there are a large number of epileptic patients with drug-resistance and also in many cases of drug-resistant epilepsy there is a considerable reduction in seizure frequency with...

Multiple sclerosis (MS) is considered as the major cause of acquired neurological insult in young adults and the commonest demyelinating disease of the central nervous system (CNS). It is an inflammatory disease, which is characterized by areas of demyelination, rupture of the blood-brain barrier and diffuse disorder of the white matter. MS is cons...

Octreotide is a synthetic somatostatin analogue which has been suggested for use in the management of acute pancreatitis, though its safety and effectiveness in the pediatric setting has not been extensively studied. we present a rare case of a 6.5-year-old female with acute lymphoblastic leukemia (ALL) and L-asparaginase (L-asp) induced pancreatit...

letter to the editor

Deficiency of the sulfide metabolizing protein ETHE1 is the cause of ethylmalonic encephalopathy (EE), an inherited and severe metabolic disorder. To study the molecular effects of EE, we performed a proteomics study on mitochondria from cultured patient fibroblast cells. Samples from six patients were analyzed and revealed seven differentially reg...

Stroke in childhood is one of the most common causes of death or severe impairment worldwide, with annual incidence estimated from 1,3 to 13 cases/100.000 population. The definition of stroke consists both of arterial ischemic stroke (AIS) and hemorrhagic stroke. The incidence of ischemic and hemorrhagic stroke in children is approximately the same...

Rolandic epilepsy (RE) is the most common idiopathic focal epilepsy in childhood characterized by an EEG abnormality of centrotemporal sharp waves. Results from a recent genome-wide linkage analysis have implicated the Elongator protein complex 4 (ELP4) gene, in the pathogenesis of this neurodevelopmental disorder. ELP4 is a component of the elonga...

Stroke in childhood ranks in the top ten causes of death, with high morbidity and high cost recovery for the survivors. We describe a case of a 5 year old male child who presented to our clinic with acute right pyramidal tract signs. The child had multiple café au lait spots on the trunk, indicative Neurofibromatosis. From the initial laboratory te...

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 (Bell's palsy) have a very good prognosis, while treatment with prednisone does not certainly improve the outcome. The causes of facia...

Learning 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....

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 nucl...

Purpose: To follow the clinical course of children and adolecents with absence syndromes, estimate the percentage of patients entering remis- sionwithmonotherapyorcombinationofantiepilepticdrugs(AEDs)and identifyprognosticfactorsofearlyremission. Method: The study population consisted of 65 children, 34 girls and 31 boys, 3–14 years old (mean 6.94...

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...

The hepatic urea cycle is the major route for the metabolism of excess nitrogen produced by the breakdown of protein and amino acids. Severe deficiency of any of the enzymes of the urea cycle results in the accu-mulation of ammonia which may cause progressive and fatal encephalopathy. This is the case of a 6 month old male infant who presented with...

Purpose: Brain-derived neurotrophic factor (BDNF) is the most abundant neurotrophin in the CNS, where it plays a crucial role in the development of immature neurons and the survival and plasticity of mature nerve cells. The Val66Met polymorphism (rs6265) has been linked with anatomical and functional variation including an altered susceptibility to...

Learning Disorders (LD) are defined as disorders which interfere with academic performance or with daily activities, which 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 subtyp...

Stroke in childhood is one of the most common causes of death or severe impairment worldwide, with annual incidence estimated from 1,3 to 13 cases/100.000 population. The definition of stroke consists both of arterial ischemic stroke (AIS) and hemorrhagic stroke. The incidence of ischemic and hemorrhagic stroke in children is approximately the same...

Chronic inflammatory demyelinating polyneuropathy (CIDP) is one of immune-mediated acquired demyelinating polyneuropathies. It affects all ages, but it is rare in childhood. This is the case of a 3 year old male child referred in Pediatric Dept afebrile and in good condition. Parents reported the following symptoms that first appeared progressively...

The hepatic urea cycle is the major route for the metabolism of excess nitrogen produced by the breakdown of protein and amino acids. Severe deficiency of any of the enzymes of the urea cycle results in the accumulation of ammonia which may cause progressive and fatal encephalopathy. This is the case of a 6 month old male infant who presented with...

The hepatic urea cycle is the major route for the metabolism of excess nitrogen produced by the breakdown of protein and amino acids. Severe deficiency of any of the enzymes of the urea cycle results in the accumulation of ammonia which may cause progressive and fatal encephalopathy. This is the case of a 6 month old male infant who presented with...

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 per...

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. T...

Children with epilepsy, especially those facing intractable seizures, experience a great impact on the quality of their lives. Effective treatment is essential, and although new anti-epileptic drugs have shown an improved profile of action, still a substantial number of children look for more efficacious ways of treatment that are far away from pot...