Focal Epilepsy Associated with Glioneuronal Tumors

Glioneuronal tumors are an increasingly recognized cause of partial seizures that occur primarily in children and young adults. Focal epilepsy associated with glioneuronal tumors is often resistant to pharmacological treatment. The cellular mechanisms underlying the epileptogenicity of glioneuronal tumors remain largely unknown. The involved mechanisms are certain to be multifactorial and depend on specific tumor histology, integrity of the blood-brain barrier, characteristics of the peritumoral environment, circuit abnormalities, or cellular and molecular defects. Glioneuronal tumors presenting with epilepsy were observed to have relatively benign biological behavior. The completeness of the tumor resection is of paramount importance in avoiding tumor progression and malignant transformation, which are rare in cases of epileptogenic glioneuronal tumors. An evolving understanding of the various mechanisms of tumor-related epileptogenicity may also lead to a more defined surgical objective and effective therapeutic strategies, including antiepileptogenic treatments, to prevent epilepsy in at-risk patients

"Electro-clinical Syndromes" with onset in Paediatric Age. the highlights of the clinical-EEG, genetic and therapeutic advances

The genetic causes underlying epilepsy remain largely unknown, and the impact of available genetic data on the nosology of epilepsy is still limited. Thus, at present, classification of epileptic disorders should be mainly based on electroclinical features. Electro-clinical syndrome is a term used to identify a group of clinical entities showing a cluster of electro-clinical characteristics, with signs and symptoms that together define a distinctive, recognizable, clinical disorder. These often become the focus of treatment trials as well as of genetic, neuropsychological, and neuroimaging investigations. They are distinctive disorders identifiable on the basis of a typical age onset, specific EEG characteristics, seizure types, and often other features which, when taken together, permit a specific diagnosis which, in turn, often has implications for treatment, management, and prognosis. Each electro-clinical syndrome can be classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. Therefore, according to the age at onset, here we review the more frequently observed paediatric electro-clinical syndrome from their clinical-EEG, genetic and therapeutic point of views

Peroxisome Proliferator-Activated Receptors as Mediators of Phthalate-Induced Effects in the Male and Female Reproductive Tract: Epidemiological and Experimental Evidence

There is growing evidence that male as well as female reproductive function has been declining in human and wildlife populations over the last 40 years. Several factors such as lifestyle or environmental xenobiotics other than genetic factors may play a role in determining adverse effects on reproductive health. Among the environmental xenobiotics phthalates, a family of man-made pollutants are suspected to interfere with the function of the endocrine system and therefore to be endocrine disruptors. The definition of endocrine disruption is today extended to broader endocrine regulations, and includes activation of metabolic sensors, such as the peroxisome proliferator-activated receptors (PPARs). Toxicological studies have shown that phthalates can activate a subset of PPARs. Here, we analyze the epidemiological and experimental evidence linking phthalate exposure to both PPAR activation and adverse effects on male and female reproductive health

“Epileptic Encephalopathy” of Infancy and Childhood: Electro-Clinical Pictures and Recent Understandings

There is growing interest in the diagnosis of cognitive impairment among children with epilepsy. It is well known that status of seizures control has to be carefully investigated because it can be sufficient “per se” to cause progressive mental deterioration conditions. Subclinical electroencephalographic discharges may have subtle effects on cognition, learning and sleep patterns, even in the absence of clinical or sub-clinical seizures. In this respect, electroencephalographic monitoring (long-term and nocturnal recording) and in particular an all night video-polysomnography (V-NPSG) record can be crucial to detect the presence of unrecognized seizures and/or an inter-ictal nocturnal EEG discharge increasing. Epileptic encephalopathies (EE) are a group of conditions in which the higher cognitive functions are deteriorate as a consequence of epileptic activity, which, in fact, consists of frequent seizures and/or florid and prolonged interictal paroxysmal discharges, focal or generalized. AEDs represent the first line in opposing the burden of both, the poor seizures control and the poor interictal discharges control, in the cognitive deterioration of EE affected children. Thus, to improve the long-term cognitive/behavioural prognosis in these refractory epileptic children, it should be taken into account both a good seizures control and a strict sleep control, choosing carefully antiepileptic drugs which are able to control not only seizures clinically recognizable but even the EEG discharges onset and its increasing and spreading during sleep. Here, we review the efficacy and safety of the newer AEDs that, to date, are used in the treatment of EE in infancy and childhood

New antiepileptic drugs in the treatment of Lennox-Gastaut syndrome

Lennox–Gastaut syndrome is a childhood epileptic encephalopathy characterised by polymorphic seizures and neuropsychological decline. The most characteristic seizures are tonic fits, atypical absences and atonic seizures, in that order. Treatment options for patients with LGS are limited because of the resistance of seizures to pharmacological treatment. Owing to the many seizure types, many drugs are used in combinations that are mostly guided by anecdotal evidence or personal experience. Opinions towards treatment are further complicated because an antiepileptic drug might be of some benefit for the control of one type of seizure while aggravating another type. Concomitantly, polytherapy increases the potential for adverse events. The ultimate goal of epilepsy treatment is to achieve seizure control in a safe manner. Seizure freedom appears to be unrealistic in some refractory epilepsies, especially LGS. In this Review, we discuss newer antiepileptic drugs (Felbamate, Lamotrigine, Levetiracetam, Topiramate, Rufinamide, Vigabatrin, Zonisamide) in the treatment of Lennox-Gastaut syndrome. Investigation of the effects of newer medications might help to identify treatments that, when used in the early stages of the disorder, might have long-term beneficial effects on seizures and the associated comorbidities. Key words: antiepileptic drugs, Lennox- Gastaut syndrome, epileps

Clinical and Pharmacological Aspects of Inflammatory Demyelinating Diseases in Childhood: An Update

Inflammatory demyelinating diseases comprise a spectrum of disorders affecting the myelin of the central and peripheral nervous system. These diseases can usually be differentiated on the basis of clinical, radiological, laboratory and pathological findings

Secondary involvement of Meckel’s diverticulum by group A β-hemolytic streptococcus in a child with upper airways infection treated by laparoscopic-assisted resection

We report a case of a 5-year-old boy with acute abdomen following an upper airways infection who developed Meckel’s diverticulum perforation secondary to group A β-hemolytic streptococcus and its successful treatment by a laparoscopic-assisted intervention. To the best of our knowledge, such an event has never been reported previously.Keywords: group A β-hemolytic streptococcus, intestinal perforation, Meckel’s diverticulu

Massive pyuria as an unusual presentation of giant infected urachal remnant in a child

Urachal remnants (URs) are manifestations of an incomplete regression of the urachus; therefore, there may be different types of remnants such as cyst, sinus tract, diverticulum or patent urachus. The clinical presentation of a urachal anomaly includes umbilical discharge, lower abdominal pain and urinary tract infection, although a UR may also be asymptomatic. We present the case of a 2.5-year-old girl who presented with abdominal pain, stranguria and massive pyuria in which a giant infected UR was found. The diagnosis was made using abdominal MRI. The child was subjected to  laparoscopic-assisted drainage and had an uneventful postoperative course.Keywords: differential diagnosis, infected urachal remnant, laparoscopy, pyuri

Epilepsy and suicide: pathogenesis, risk factors, and prevention

Depression and suicide tendencies are common in chronic diseases, especially in epilepsy and diabetes. Suicide is one of the most important causes of death, and is usually underestimated. We have analyzed several studies that compare mortality as a result of suicide in epileptic patients and in the general population. All the studies show that epileptic patients have a stronger tendency toward suicide than healthy controls. Moreover it seems that some kinds of epilepsy have a higher risk for suicide (temporal-lobe epilepsy). Among the risk factors are surgery therapy (suicide tendency five times higher than patients in pharmacological therapy), absence of seizures for a long time, especially after being very frequent, and psychiatric comorbidity (major depression, anxiety-depression disorders, personality disorders, substance abuse, psychoses). The aim of the review was to analyze the relationship between suicide and epilepsy, to identify the major risk factors, and to analyze effective treatment options

Management and particular ultrasonographic finding in childhood acute scrotal swelling and pain associated with Henoch-Schönlein purpura: A case report and review of the literature

Henoch–Schönlein purpura (HSP), also known as immunoglobulin A (IgA) vasculitis, is a systemic vasculitis of unknown cause, mostly affecting children, in which complexes of IgA and components of complement are deposited on arterioles, capillaries, and venules. It is characterized by nonthrombocytopenic palpable purpura, abdominal pain, and arthritis. While renal involvement is well-known and frequent, scrotal involvement is uncommon and, therefore, not easy to be interpreted. Here, we report a case of a 3-year-old boy hospitalized for HSP, presenting with bilateral acute scrotum, and discuss diagnosis and treatment