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1.
Curr Pediatr Rev ; 2019 Oct 04.
Artigo em Inglês | MEDLINE | ID: mdl-31584371

RESUMO

Eosinophilic esophagitis (EoE) is an emerging chronic immune and antigen-mediated clinicopathologic disease. During the last 2 decades, the incidence of this condition in children have increased significantly, thanks to more awareness of practitioners and higher use of diagnostic endoscopy. We have analysed paediatric literature on EoE focusing on epidemiology, pathophysiology, clinical findings and diagnostic approach. EoE is pathogenically related to a Th2 inflammation characterized by a mixed IgE and non IgE-mediated reaction to food and/or environmental agents. This leads to esophageal dysfunction and remodeling accompanied by subepithelial fibrosis. EoE presents with a diverse range of gastrointestinal symptoms, including regurgitation, vomiting, feeding difficulties or feeding refusal in infants and toddlers, as well as heartburn, dysphagia and food bolus impaction in older children and adults. The diagnostic suspicion is based on the presence of chronic symptoms of esophgeal disfunction and esophageal eosinophilia characterised histologically by a significant eosinophilic infiltration of the oesophageal mucosa (>15 eosinophils per high powered field). In this review we will provide an update on clinical presentation and diagnostic approach to EoE in children. We emphasized the relevant aspects of the new clinical condition termed "PPI responsive esophageal eosinophilia", as entities distinct from EoE and the role of PPI trial in diagnostic workup, therefore we proposed a new diagnostic algorithm.

2.
Epilepsy Behav ; 99: 106393, 2019 Aug 31.
Artigo em Inglês | MEDLINE | ID: mdl-31479999

RESUMO

Celiac disease (CD) is a systemic, chronic immune-mediated disorder elicited by gluten and related prolamines in genetically susceptible subjects. Main manifestations of CD involve the digestive tract; however, a growing body of evidence supports the theory that symptoms may occur in every part of the body. It is known that some patients with CD can be asymptomatic, and additionally, the incidence of "nonclassical" CD with extraintestinal presentation is apparently increasing. We aimed to perform a thorough review of existing evidence for neurological manifestations of CD, providing an up-to-date description of prevalence and examining the pathogenetic mechanisms possibly involved. Neurological presentations are rare in children but as many as 36% of adult patients present with neurological findings. With severe malnutrition after progression of CD, different vitamin deficiencies may develop. Such problems can in turn overlap with previous neurological abnormalities including ataxia, epilepsy, neuropathy, dementia, and cognitive disorders. Here, the most prevalent clinical manifestations in adults and children have been discussed in further detail. Further research is needed to achieve a complete understanding of the nervous system involvement in CD, but clinicians should always remember that neurological and psychiatric symptoms might be part of the CD spectrum of manifestations.

3.
Epilepsy Behav ; 98(Pt A): 124-128, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31369969

RESUMO

Panayiotopoulos syndrome (PS) is a frequent (6% among children of 1-15 years) and benign epileptic syndrome, characterized by predominantly autonomic symptoms (emesis, pallor, flushing, cyanosis, mydriasis/miosis, cardiorespiratory and thermoregulatory alterations, incontinence of urine and/or feces, hypersalivation, and modifications of intestinal motility) associated with simple motor focal seizures, which can be followed by secondary generalization. Panayiotopoulos syndrome can be extremely insidious, because it can mimic several condition, such as gastroenteritis, gastroesophageal reflux disease, encephalitis, syncope, migraine, sleep disorders, or even metabolic diseases. This peculiar pleiotropism should be kept in mind by child neurologists and pediatricians and general practitioners, because a wrong diagnosis may lead to inappropriate interventions. The consequences are high morbidity, costly mismanagement, and stress for children and their parents. The availability of electroencephalography (EEG) recording in pediatric Emergency Departments might be useful for a prompt and not-cost-consuming diagnosis. On the other hand, it is important to be aware of the possible, multifaceted, clinical presentations of PS and its clinical, radiological, and neurophysiological features in order to improve both recognition and management.

4.
Nutrients ; 11(7)2019 07 13.
Artigo em Inglês | MEDLINE | ID: mdl-31337023

RESUMO

BACKGROUND: A strictly gluten-free diet (GFD) is the basis for managing celiac disease (CD). Numerous studies have reported nutritional deficiencies/imbalances ascribable to a GFD. The aim of this review is to describe nutritional deficiencies observed in children with celiac disease on a GFD, to discuss the clinical consequences related to these nutritional imbalances, and to identify strategies that may be adopted to treat them. METHODS: We reviewed the MEDLINE and EMBASE databases between January 1998 and January 2019. RESULTS: Children are, regardless of whether they are on a gluten-free diet or not, at risk of consuming too much fat and insufficient fiber, iron, vitamin D, and calcium. These imbalances may be exacerbated when children are on a gluten-free diet. In particular, the intake of folate, magnesium, zinc, and foods with a high glycemic index in children with CD who are on a GFD is significantly altered. CONCLUSIONS: Therapeutic protocols should include nutritional education to help teach subjects affected by disorders such as CD the importance of labels, the choice of foods, and the combination of macro- and micronutrients. Children with CD on a GFD should be encouraged to rotate pseudo-cereals, consume gluten-free commercial products that have been fortified or enriched, and use foods that are local and naturally gluten-free.

5.
Arch Dis Child ; 104(8): 768-774, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30948362

RESUMO

OBJECTIVES: To evaluate the causes and management of acute ataxia (AA) in the paediatric emergency setting and to identify clinical features predictive of an underlying clinically urgent neurological pathology (CUNP). STUDY DESIGN: This is a retrospective medical chart analysis of children (1-18 years) attending to 11 paediatric emergency departments (EDs) for AA in an 8-year period. A logistic regression model was applied to identify clinical risk factors for CUNP. RESULTS: 509 patients (mean age 5.8 years) were included (0.021% of all ED attendances). The most common cause of AA was acute postinfectious cerebellar ataxia (APCA, 33.6%). Brain tumours were the second most common cause (11.2%), followed by migraine-related disorders (9%). Nine out of the 14 variables tested showed an OR >1. Among them, meningeal and focal neurological signs, hyporeflexia and ophthalmoplegia were significantly associated with a higher risk of CUNP (OR=3-7.7, p<0.05). Similarly, the odds of an underlying CUNP were increased by 51% by each day from onset of ataxia (OR=1.5, CI 1.1 to 1.2). Conversely, a history of varicella-zoster virus infection and vertigo resulted in a significantly lower risk of CUNP (OR=0.1 and OR=0.5, respectively; p<0.05). CONCLUSIONS: The most frequent cause of AA is APCA, but CUNPs account for over a third of cases. Focal and meningeal signs, hyporeflexia and ophthalmoplegia, as well as longer duration of symptoms, are the most consistent 'red flags' of a severe underlying pathology. Other features with less robust association with CUNP, such as seizures or consciousness impairment, should be seriously taken into account during AA evaluation.

6.
Ital J Pediatr ; 45(1): 36, 2019 Mar 12.
Artigo em Inglês | MEDLINE | ID: mdl-30871574

RESUMO

BACKGROUND: Migraine is one of the most prevalent chronic pain manifestations of childhood. Despite the multitude of available treatments, parents are often concerned about chronic therapies and pediatricians have insufficient confidence in prescribing prophylactic drugs. Therefore, there is now growing interest for natural supplements used to control recurrent migraine headaches. Such approach may increase acceptance and adherence to long-term prophylaxis therapy in children. METHODS: This is an observational multicenter study performed in children (n = 91) with migraine, with (MO) or without aura (MA), or tension-type headache (TTH). A fixed-dose Andrographis paniculata, CoQ10, riboflavin, and magnesium, was administered for 16 weeks. Patients were evaluated at baseline (T0), at week 8 (T1) and at the end of treatment at week 16 (T2). A follow-up period occurred at week 20 (T3) and week 32 (T4). RESULTS: The herbal supplement significantly reduced the frequency of headaches in TTH patients during treatment period (T0: 11.97 + 1.92 vs T2: 5.13 + 1.93; p < 0.001) and the efficacy was maintained after 16 weeks of treatment withdrawal (T4: 4.46 + 1.75; p < 0.001 vs T0). The frequency of migraine attacks was also reduced in the MO group during treatment (T0: 9.70 + 0.96 vs T2: 4.03 + 0.75; p < 0.01) and after withdrawal (T4: 2.96 + 0.65; p < 0.01 vs T0). Conversely, MA patients showed reduction in migraine's frequency during treatment (T0: 8.74 + 1.91 vs T2: 3.78 + 2.02; p < 0.01) but not at the end of the study (T4: 5.57 + 3.31; p > 0.05 vs T0). TTH patients did not report significant improvement of pain intensity. A significant effect was observed in the MO group during treatment (T0: 3.06 + 0.11 vs T2: 2.14 + 0.19; p < 0.001) and after treatment withdrawal (T4: 2.20 + 0.21; p < 0.001 vs T0). Likewise, MA group showed a significant treatment effect (T0: 2.57 + 0.20 vs T2: 0.86 + 0.45; p < 0.001) and the efficacy persisted at the end of the study (T4: 1.00 + 0.58; p < 0.001 vs T0). CONCLUSION: This fixed-dose Tanacetum parthenium preparation improved headache frequency and pain intensity in children affected by TTH. Despite the main limits, this study supports the use of nutraceutical in pediatric headache/migraine.


Assuntos
Suplementos Nutricionais , Transtornos de Enxaqueca/tratamento farmacológico , Transtornos de Enxaqueca/prevenção & controle , Extratos Vegetais/uso terapêutico , Tanacetum parthenium , Adolescente , Análise de Variância , Criança , Estudos de Coortes , Feminino , Seguimentos , Saúde Holística , Humanos , Itália , Magnésio/uso terapêutico , Masculino , Medição da Dor , Plantas Medicinais , Estudos Prospectivos , Riboflavina/uso terapêutico , Medição de Risco , Índice de Gravidade de Doença , Estatísticas não Paramétricas , Cefaleia do Tipo Tensional/tratamento farmacológico , Cefaleia do Tipo Tensional/prevenção & controle , Resultado do Tratamento , Ubiquinona/análogos & derivados , Ubiquinona/uso terapêutico
7.
Am J Emerg Med ; 2018 Jul 21.
Artigo em Inglês | MEDLINE | ID: mdl-30087069

RESUMO

OBJECTIVE: We aimed to describe characteristics, etiology and health care use in children with low back pain (LBP) presenting to pediatric emergency department (ED) and to develop an algorithm to design a diagnostic approach. METHODS: We conducted a 7-year cohort study of children admitted to ED with a primary complaint of LBP. They were classified into diagnostic groups: visceral LBP; traumatic LBP; non-visceral/non-traumatic LBP. To identify high-risk factors (red flags) associated with severe prognosis conditions (SPCs), we analyzed the non-visceral/non-traumatic group comparing the SPC children with those children without SPCs. RESULTS: Our population comprised 140 females (52.6%) and 126 males (47.4%), with a median age of 10.5 years. Eighty children (30.3%) were hospitalized, with an average length of stay of 8.53 ±â€¯9.84 days. SPCs accounted for 28 patients (18.9%) of overall 148 with non-traumatic/non-visceral LBP. In this group, SPCs presented with earlier onset and longer duration of symptoms than non-SPCs. The presence of red flags was more significant in the SPCs group, 28 vs 18; 100% vs 15% (p < 0.001); sensitivity 100%, specificity 85%. Among SPCs, 78.6% were hospitalized vs non-SPC (16.8%) (p < 0.001); within SPC group 2 patients returned because of onset of red flags. CONCLUSION: Our study identified significative high-risk factors (red flags) associated with serious outcomes (SPC group) compared to the non-SPC group, thereby ensuring specific treatment. We developed an algorithm based on previous literature and the findings of our study, which will need to be validated by future prospective research.

10.
Ital J Pediatr ; 44(1): 62, 2018 May 29.
Artigo em Inglês | MEDLINE | ID: mdl-29843812

RESUMO

BACKGROUND: Acute ocular motility disorders (OMDs) in children admitted to Emergency Department (ED) represents a not so rare condition with a wide spectrum of different etiologies. The emergency physician must be skilled in rapidly identifying patients with potentially life threatening (LT) forms, requiring further diagnostic procedures. The aim of the study was to assess characteristics of children with acute Ocular Motility Disorders (OMDs), and to identify "red flags" for recognition of underlying life-threatening (LT) conditions. METHODS: A retrospective cohort study evaluated children (2 months-17 years) admitted to a tertiary Emergency Department in 2009-2014. A subgroup analysis was performed comparing children with and without LT conditions. RESULTS: Of 192 visits for OMDs, the isolated strabismus occurred most frequently (55.6%), followed by pupil disorders (31.8%), ptosis (5.2%) and combined OMDs (11.5%). The majority of acute OMDs involved no underlying LT conditions (n = 136) and most of them were infants or toddlers (50%). In a multivariable analysis, LT conditions included especially children over 6 years of age, increasing the odds ratio by 2% for each months of age (p = 0.009). LT etiologies were 16 times more likely in combined OMDs (p = 0.018), were over 13 times more likely to report associated extra-ocular signs/symptoms (p = 0.017) and over 50 times more likely to report co-morbidity (p = 0.017). CONCLUSION: OMDs are not an uncommon presentation at ED. Although most of them involve non-LT conditions, the ED physician should consider potential "red flags" for appropriate management of children such as age > 6 years, combined OMDs, extra-ocular symptoms and co-morbidity.


Assuntos
Serviço Hospitalar de Emergência , Hospitalização/estatística & dados numéricos , Transtornos da Motilidade Ocular/diagnóstico , Transtornos da Motilidade Ocular/epidemiologia , Doença Aguda , Adolescente , Distribuição por Idade , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Seguimentos , Humanos , Lactente , Itália/epidemiologia , Modelos Logísticos , Masculino , Análise Multivariada , Transtornos da Motilidade Ocular/terapia , Prevalência , Estudos Retrospectivos , Medição de Risco , Distribuição por Sexo
11.
Expert Opin Drug Metab Toxicol ; 14(5): 505-512, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29804481

RESUMO

INTRODUCTION: Although novel antiepileptic drugs (AEDs) have been recently released, the issue of drug resistance in epileptic patients remains unsolved and largely unpredictable. Areas covered: We aim to assess the clinical impact of genetic variations that may influence the efficacy of medical treatment in epilepsy patients. Indeed, many genes, including genes encoding drug transporters (ABCB1), drug targets (SCN1A), drug-metabolizing enzymes (CYP2C9, CYP2C19), and human leucocyte antigen (HLA) proteins, may regulate the mechanisms of drug resistance in epilepsy. This review specifically focuses on the ABC genes, which encode multidrug resistance-associated proteins (MRPs) and may reduce the blood-brain barrier penetration of anticonvulsant AEDs. Expert opinion: Drug resistance remains a crucial problem in epilepsy patients. Pharmacogenomic studies may improve our understanding of drug responses and drug resistance by exploring the impact of gene variants and predicting drug responses and tolerability.


Assuntos
Transportadores de Cassetes de Ligação de ATP/genética , Anticonvulsivantes/uso terapêutico , Epilepsia/tratamento farmacológico , Animais , Anticonvulsivantes/farmacocinética , Transporte Biológico/genética , Barreira Hematoencefálica/metabolismo , Resistência a Medicamentos/genética , Epilepsia/genética , Humanos , Farmacogenética , Polimorfismo Genético , Distribuição Tecidual
13.
Arch Dis Child ; 103(8): 790-794, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29519947

RESUMO

INTRODUCTION: Limited data exist on epidemiology, clinical presentation and management of acute hyperkinetic movement disorders (AHMD) in paediatric emergency departments (pED). METHODS: We retrospectively analysed a case series of 256 children (aged 2 months to 17 years) presenting with AHMD to the pEDs of six Italian tertiary care hospitals over a 2-year period (January 2012 to December 2013). RESULTS: The most common type of AHMD was tics (44.5%), followed by tremors (21.1%), chorea (13.7%), dystonia (10.2%), myoclonus (6.3%) and stereotypies (4.3%). Neuropsychiatric disorders (including tic disorders, psychogenic movement disorders and idiopathic stereotypies) were the most represented cause (51.2%). Inflammatory conditions (infectious and immune-mediated neurological disorders) accounted for 17.6% of the cases whereas non-inflammatory disorders (including drug-induced AHMDs, genetic/metabolic diseases, paroxysmal non-epileptic movements and idiopathic AHMDs) accounted for 31.2%. Neuropsychiatric disorders prevailed among preschoolers and schoolers (51.9% and 25.2%, respectively), non-inflammatory disorders were more frequent in infants and toddlers (63.8%), whereas inflammatory conditions were more often encountered among schoolers (73.3%). In 5 out of 36 Sydenham's chorea (SC) cases, tics were the presentation symptom on admission to emergency department (ED), highlighting the difficulties in early diagnosis of SC. Inflammatory disorders were associated with a longer hospital stay and a greater need of neuroimaging test compared with other disorders. CONCLUSIONS: This study provides the first large sample of paediatric patients presenting to the ED for AHMDs, helping to elucidate the epidemiology, aetiology and clinical presentation of these disorders.

14.
Epilepsia ; 58(11): 1993-2001, 2017 11.
Artigo em Inglês | MEDLINE | ID: mdl-28913875

RESUMO

OBJECTIVES: Thrombospondins, which are known to interact with the α2 δ subunit of voltage-sensitive calcium channels to stimulate the formation of excitatory synapses, have recently been implicated in the process of epileptogenesis. No studies have been so far performed on thrombospondins in models of absence epilepsy. We examined whether expression of the gene encoding for thrombospondin-1 was altered in the brain of WAG/Rij rats, which model absence epilepsy in humans. In addition, we examined the frequency of genetic variants of THBS1 in a large cohort of children affected by idiopathic/genetic generalized epilepsies (IGE/GGEs). METHODS: We measured the transcripts of thrombospondin-1 and α2 δ subunit, and protein levels of α2 δ, Rab3A, and the vesicular glutamate transporter, VGLUT1, in the somatosensory cortex and ventrobasal thalamus of presymptomatic and symptomatic WAG/Rij rats and in two control strains by real-time polymerase chain reaction (PCR) and immunoblotting. We examined the genetic variants of THBS1 and CACNA2D1 in two independent cohorts of patients affected by IGE/GGE recruited through the Genetic Commission of the Italian League Against Epilepsy (LICE) and the EuroEPINOMICS-CoGIE Consortium. RESULTS: Thrombospondin-1 messenger RNA (mRNA) levels were largely reduced in the ventrobasal thalamus of both presymptomatic and symptomatic WAG/Rij rats, whereas levels in the somatosensory cortex were unchanged. VGLUT1 protein levels were also reduced in the ventrobasal thalamus of WAG/Rij rats. Genetic variants of THBS1 were significantly more frequent in patients affected by IGE/GGE than in nonepileptic controls, whereas the frequency of CACNA2D1 was unchanged. SIGNIFICANCE: These findings suggest that thrombospondin-1 may have a role in the pathogenesis of IGE/GGEs.


Assuntos
Canais de Cálcio/genética , Modelos Animais de Doenças , Epilepsia Tipo Ausência/genética , Epilepsia Generalizada/genética , Trombospondina 1/genética , Animais , Canais de Cálcio/biossíntese , Estudos de Coortes , Epilepsia Tipo Ausência/metabolismo , Epilepsia Generalizada/metabolismo , Humanos , Masculino , Ratos , Ratos Wistar , Trombospondina 1/biossíntese
15.
Epilepsy Behav ; 75: 165-169, 2017 10.
Artigo em Inglês | MEDLINE | ID: mdl-28866336

RESUMO

Benign epilepsy with centrotemporal spikes (BECTS) epilepsy, also known as rolandic epilepsy, is the most common childhood type of epilepsy. There is debate on its "benign" definition given the numerous literature data on its correlation to cognitive morbidity. Although its prognosis is often favorable, BECTS can present or evolve however to an atypical form, characterized by a worse prognosis and negative impact on cognitive development. It is possible that abnormal electrical activity, marker of neurological dysfunction, has the potential to disrupt neural network function and development. Numerous studies tried to identify clinical or electroencephalographic criteria for atypical forms and atypical evolution of BECTS in order to guide follow-up and treatment of patients and to predict their outcome. This review provides a compact summery of literature data with a focus on predictive features of future cognitive decline.


Assuntos
Epilepsia Rolândica/diagnóstico , Criança , Transtornos Cognitivos/etiologia , Eletroencefalografia , Epilepsia Rolândica/fisiopatologia , Epilepsia Rolândica/psicologia , Humanos , Prognóstico
17.
Eur J Paediatr Neurol ; 21(5): 722-729, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28625338

RESUMO

BACKGROUND: Acute diplopia (AD) is an uncommon and distressing symptom of numerous ocular and neurological conditions, with potentially serious sequelaes. No data are present in pediatrics on the presentation and management of AD. AIM: This study investigated characteristics, etiology and health care utilization of the pediatric population with AD accessed to pediatric Emergency Departments (ED), trying to identify "red flags" associated with potentially life-threatening (LT) conditions. METHODS: We conducted a cohort multicenter study on children with AD in ten Italian hospitals. Patients were classified into diagnostic categories, comparing children with and without LT disease. RESULTS: 621 children presented AD at a rate of 3.6 per 10.000. The most frequent diagnosis among no-LT conditions (81.2%) were headache, ocular disorders and minor post-traumatic disease, while LT conditions (18.8%) were represented by brain tumors, demyelinating conditions, idiopathic intracranial hypertension and major post-traumatic diseases. The LT group showed a significantly higher age, with the odds increased by 1% for each month of age. Monocular diplopia occurred in 16.1%, but unlike adult one-fifth presented LT conditions. Binocular diplopia, associated ocular manifestations or extraocular neurological signs were significantly more common in the LT group. At regression logistic analysis strabismus and ptosis were associated with LT conditions. CONCLUSION: The majority of children presented no-LT conditions and more than one-fourth of patients had headache. Monocular diplopia in the LT group was never isolated but associated with other signs or symptoms. Our study was able to identify some specific ocular disturbances or neurologic signs potentially useful for ED physician to recognize patients with serious pathologies.


Assuntos
Diplopia/diagnóstico , Diplopia/etiologia , Serviço Hospitalar de Emergência , Doença Aguda , Adolescente , Fatores Etários , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Hospitalização , Humanos , Itália , Masculino , Neuroimagem
19.
Curr Neuropharmacol ; 15(6): 918-925, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28290248

RESUMO

BACKGROUND: Spike-wave discharges, underlying absence seizures, are generated within a cortico-thalamo-cortical network that involves the somatosensory cortex, the reticular thalamic nucleus, and the ventrobasal thalamic nuclei. Activation of T-type voltage-sensitive calcium channels (VSCCs) contributes to the pathological oscillatory activity of this network, and some of the first-line drugs used in the treatment of absence epilepsy inhibit T-type calcium channels. The α2δ subunit is a component of high voltage-activated VSCCs (i.e., L-, N-, P/Q-, and R channels) and studies carried out in heterologous expression systems suggest that it may also associate with T channels. The α2δ subunit is also targeted by thrombospondins, which regulate synaptogenesis in the central nervous system. OBJECTIVE: To discuss the potential role for the thrombospondin/α2δ axis in the pathophysiology of absence epilepsy. METHODS: We searched PubMed articles for the terms "absence epilepsy", "T-type voltage-sensitive calcium channels", "α2δ subunit", "ducky mice", "pregabalin", "gabapentin", "thrombospondins", and included papers focusing this Review's scope. RESULTS: We moved from the evidence that mice lacking the α2δ-2 subunit show absence seizures and α 2δ ligands (gabapentin and pregabalin) are detrimental in the treatment of absence epilepsy. This suggests that α2δ may be protective against absence epilepsy via a mechanism that does not involve T channels. We discuss the interaction between thrombospondins and α2δ and its potential relevance in the regulation of excitatory synaptic formation in the cortico-thalamo-cortical network. CONCLUSION: We speculate on the possibility that the thrombospondin/α2 δ axis is critical for the correct functioning of the cortico-thalamo-cortical network, and that abnormalities in this axis may play a role in the pathophysiology of absence epilepsy.


Assuntos
Canais de Cálcio/metabolismo , Epilepsia Tipo Ausência/metabolismo , Animais , Epilepsia Tipo Ausência/tratamento farmacológico , Humanos , Trombospondinas/metabolismo
20.
Eur J Paediatr Neurol ; 21(3): 570-575, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28238620

RESUMO

AIM: Childhood absence epilepsy (CAE) and benign childhood epilepsy with centrotemporal spikes (BECTS) are the most common forms of childhood epilepsy. Recent studies in animal models suggest that the two phenotypes may represent a neurobiological continuum. Although the coexistence of CAE and BECTS has been reported, this issue remains controversial. The purpose of this study was to analyse the electro-clinical characteristics of a group of children with contemporary or subsequent features of absence seizures and focal seizures consistent with BECTS. MATERIAL AND METHODS: A systematic record review from 8 epilepsy centres was used to identify 11 subjects, 5 females and 6 males, with electro-clinical documented consecutive or contemporary coexistence of CAE and BECTS. RESULTS: Patient's age ranged between 7.8 and 17.3 years. Four out of 11 patients presented concomitant features of both syndromes, whereas the remaining 7 experienced the two syndromes at different times. CONCLUSIONS: Although CAE and BECTS are clearly defined syndromes and considered very different in terms of their pathophysiology, they share some features (such as similar age of onset, overall good prognosis), and can occur in the same patient. The long term prognosis of these patients seems to be good with an excellent response to anticonvulsant therapy.


Assuntos
Epilepsia Tipo Ausência/complicações , Epilepsia Rolândica/complicações , Adolescente , Criança , Epilepsia Tipo Ausência/diagnóstico , Epilepsia Rolândica/diagnóstico , Feminino , Humanos , Masculino , Prognóstico
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