1,721,006 research outputs found
Neonatal seizures therapy: We are still looking for the efficacious drug
No full textTherapeutic options currently available for neonatal seizures are still unsatisfactory both in terms of efficacy and of risk for long-term neurotoxicity, even if there is growing recognition of their potential to worsen neurodevelopmental outcome. A recent paper by Slaughter and colleagues entitled "Pharmacological treatment of neonatal seizures: a systematic review" has been published with the aim to provide a treatment algorithm, but, due to the relative paucity of clinical studies, it relies mainly on traditional antiepileptic drugs and does not distinguish between different neonatal populations, especially preterm and hypothermic neonates, who might require a dedicated approach in order to improve seizure control and reduce side effects. © 2013 Spagnoli et al.; licensee BioMed Central Ltd
Symptomatic neonatal seizures followed by febrile status epilepticus: The two-hit hypothesis for the subsequent development of epilepsy
No full textNeonatal seizures have been associated with the later development of postneonatal epilepsy, mainly beginning within the first year of life. Mechanisms of epileptogenesis in the immature brain still need to be fully elucidated but a two-hit hypothesis, showing that an early insult heightens later susceptibility to seizure-induced brain damage, has been demonstrated in animal models. We describe 2 cases of preterm babies sustaining recurrent neonatal seizures in the context of a severe perinatal brain damage who presented with symptomatic epilepsy only after the occurrence of an episode of febrile status epilepticus. In the context of preexisting perinatal brain damage, febrile status epilepticus acted as a second hit for developing epilepsy, confirming animal evidence
Febrile and postinfectious myoclonus: Case reports and review of the literature
No full textAbstract Purpose Myoclonus associated with fever or following an infectious event (parainfectious myoclonic jerks) is a transient event with an abrupt onset. It is not common and often not recognized. In these reports, its clinical features and its favorable outcome are described. Patients and Methods We identified three pediatric patients with parainfectious myoclonic jerks who were treated at Children's Neuropsychiatry Unit at the University-Hospital of Parma (Italy). Results The myoclonic jerks presented an abrupt onset and were characterized by brief involuntary muscle contractions temporally related to febrile episodes or following infectious illnesses. The outcome was positive as they resolve spontaneously with cessation of febrile/infective events. Conclusion Parainfectious myoclonic jerks are temporary benign phenomena that could occur in association with the fever or following an infectious event. It is quite important to make a correct diagnosis as early as possible to avoid unnecessary hospitalizations or investigations
Hereditary Hemorrhagic Telangiectasia presenting as migraine: A case report
No full textBackground: Hemorrhagic Hereditary Telangiectasia (HHT) is an autosomal dominant disease characterized by the presence of multiple arteriovenous malformations (AVMs). Migraine is described in association with HHT in adulthood, while only few paediatric cases are reported in the literature. Aim: In this paper, we describe an atypical case of HHT in a 7-year-old boy, who presented severe and recurrent episodes of migraine-like headache as the first symptom of the disease. Methods: The patient was accurately investigated both clinically (general, neurological and dermatological examinations), instrumentally (electroencephalogram, brain magnetic resonance, transcranic Eco-color-Doppler, contrast echocardiography and enhanced chest computed tomography) and genetically. Results: Familial history was positive for HHT in the paternal line. Both general and neurological examination were normal. Brain magnetic resonance imaging showed a minor old infarct in the right parietal and occipital lobes. Transcranic Eco-color-Doppler, contrast echocardiography and enhanced chest computed tomography revealed a pulmonary AVM. Cephalalgia resolved after transcatheter embolotherapy. A genetic test, identifying the mutation in endoglin gene both in the patient and in the father, confirmed the suspected diagnosis of HHT. Conclusions: Although headache is rarely reported in children as the first symptom of HHT, we warn clinicians on this possible link, as a promptly diagnosis is advisable in order to prevent potential complications
Epileptic features in Cornelia de Lange syndrome: Case report and literature review
No full textIntroduction: Cornelia de Lange syndrome is a rare genetic disease, caused by mutations in three known different genes: NIBPL (crom 5p), SMC1A (crom X) and SMC3 (crom 10q), that account for about 65% of cases. This syndrome is characterized by distinctive facial features, psychomotor delay, growth retardation since the prenatal period (second trimester of pregnancy), hands and feet abnormalities, and involvement of other organs/systems. SMC1A and SMC3 mutations are responsible for a mild phenotype of the syndrome. Methods: We report the electroclinical features of epilepsy in a child with a mild Cornelia de Lange syndrome and furthermore we reviewed the descriptions of the epileptic findings available in the literature in patients with such syndrome. Results: A large heterogeneity of the epileptic findings in the literature is reported. Conclusion: The presence of epilepsy could be related to pathophysiological factors independent of those implicated in the characterization of main classical phenotypic features. A more detailed description of the epileptic findings could help clinicians in the diagnosis of this syndrome in those cases lacking of the typical features
Hemimegalencephalic variant of epidermal nevus syndrome: Case report and literature review
No full textThe epidermal nevus syndrome (ENS) is an uncommon neurocutaneous disorder in which epidermal nevi are found in association with congenital abnormalities of the brain, eye, and/or skeleton. The association of epidermal nevi and neurologic abnormalities was comprehensively described by Schimmelpenning in 1957. Pavone et al. (1991) identified a homogeneous variant of ENS with hemimegalencephaly, gyral malformation, mental retardation, seizures and facial hemihypertrophy. A 13-year-old boy with the neurologic variant of ENS with hemimegalencephaly, facial asymmetry, febrile seizures and mental retardation is reported. Additionally, we performed a literature review using the search terms "epidermal nevus syndrome" and "hemimegalencephaly", including secondary sources of data such as reference lists of articles reviewed. We found 57 previously reported cases with the hemimegalencephalic variant of epidermal nevus syndrome, in which the most frequent associated features are severe epilepsy, in about half of cases with neonatal onset, mental retardation/developmental delay, ocular/visual involvement, and facial abnormalities
Association between neonatal Volkmann’s syndrome and perinatal ischemic stroke: Review of the literature
No full textBackground and aim: Neonatal forearm compartment syndrome, also known as neonatal Volkmann’s syndrome, is an uncommon condition for which the pathognomonic finding is the presence of a forearm skin lesion. Stroke in newborns occurs in about 1/1600-5000 births. Aim of the present review is to highlight the possible association of these two conditions. Methods: We performed a review concerning the association of both these conditions. Results: We found only few reports on the association of an ischemic limb injury and a perinatal stroke combined in the same newborn. Conclusions: In light of the high percentage of delayed diagnosis of perinatal stroke, we recommend to perform an accurate neurological evaluation and eventual neuroimaging studies in order to investigate for a cerebral vascular damage and, furthermore, to rule out thrombophilic conditions in infants with signs of a neonatal ischemic limb and/or Volkmann’s syndrome. (www.actabiomedica.it)
Neonatal status epilepticus: Differences between preterm and term newborns
No full textBackground Despite the many studies on neonatal seizures, neonatal status epilepticus (NSE) remains a controversial entity, with no general consensus about its definition. We report the characteristics of newborns with NSE in order to assess whether they showed homogeneous features or displayed clinical and/or instrumental differences depending on gestational age (GA). Preterm and term neonates were compared and risk factors for adverse outcome evaluated. Methods From 154 newborns with video-EEG confirmed neonatal seizures admitted to the NICU of Parma University Hospital between January 1999 and December 2012, we collected a cohort of 47 newborns (19 preterm, 28 full-term) with NSE. NSE was defined as continuous seizure activity for at least 30 min or recurrent seizures lasting a total of 30 min without definite return to the baseline neurologic condition between seizures. Outcome was assessed at least at one year. We applied the χ2 test to compare nominal data, and multivariate logistic regression analysis to determine independent risk factors for adverse outcome. Results Only Apgar scores and neurologic examination (p ≤.02) were different between the groups. None of the preterm newborns had a favourable outcome compared to 25% of the full-term ones (p =.032). Moreover, 52.6% of preterm neonates died compared to 17.8% of the full-term newborns (p =.01; OR = 5.11). The only variable related to outcome was Apgar score at 5 min (p =.02). Conclusion Newborns with NSE represented a quite homogeneous group regardless of the GA. Outcome was unfavourable in most of the subjects; however adverse outcome and death were more represented in preterm newborns
Epilepsy after neonatal seizures: Literature review
No full textIntroduction Acute neonatal seizures are the most frequent neurological complication in the neonatal intensive care units and the seizing newborns have an increased risk of long-term morbidity. However, the relationship between neonatal seizures and the development of epilepsy later in life is still unclear.Methods We performed a literature review using the search terms "neonatal seizures AND outcome", "neonatal seizures AND epilepsy", "neonatal seizures AND post-neonatal epilepsy", including secondary sources of data such as reference lists of articles reviewed. From the studies in which data were available, the incidence of epilepsy was calculated by dividing the number of all subjects who developed epilepsy in the different studies considered with the number of all newborns enrolled to the studies less the number of patients lost at follow-up.Results We found 44 studies published between 1954 and 2013, of which 4 were population-based studies and the remaining were hospital-based case series. The overall population evaluated was 4538 newborns and 17.9% developed post-neonatal epilepsy, with an onset within the first year of life in 68.5% of the patients. In 80.7%, epilepsy was associated with other neurological impairments.Conclusion Estimates on epilepsy after neonatal seizures vary widely depending on selection criteria and length of the follow-up. However, it represents a common outcome of these newborns, especially in those with severe brain injury and additional neurodevelopmental disabilities
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