Benedetta Piccolo

Neonatal seizures and postneonatal epilepsy: a 7-y follow-up study.

Background:Seizures are one of the most common symptoms of acute neurological disorders in newborns. This study aimed at evaluating predictors of epilepsy in newborns with neonatal seizures.Methods:We recruited consecutively 85 neonates with repeated neonatal video-electroencephalogram (EEG)-confirmed seizures between January 1999 and December 2004. The relationship between clinical, EEG, and ultrasound (US) data in the neonatal period and the development of postneonatal epilepsy was investigated at 7 y of age.Results:Fifteen patients (17.6%) developed postneonatal epilepsy. Partial or no response to anticonvulsant therapy (odds ratio (OR) 16.7, 95% confidence interval (CI): 1.8–155.8, P = 0.01; OR 47, 95% CI: 5.2–418.1, P < 0.01, respectively), severely abnormal cerebral US scan findings (OR: 5.4; 95% CI: 1.1–27.4; P < 0.04), severely abnormal EEG background activity (OR: 9.5; 95% CI: 1.6–54.2; P = 0.01), and the presence of status epilepticus (OR: 6.1; 95% CI: 1.8–20.3; P < 0.01) were found to be predictors of epilepsy. However, only the response to therapy seemed to be an independent predictor of postneonatal epilepsy.Conclusion:Neonatal seizures seem to be related to postneonatal epilepsy. Recurrent and prolonged neonatal seizures may act on an epileptogenic substrate, causing further damage, which is responsible for the subsequent clinical expression of epilepsy.

Failure in pantomime action execution correlates with the severity of social behavior deficits in children with autism: a praxis study.

Abstract Here we describe the performance of children with autism, their siblings, and typically developing children using the Florida Apraxia Battery. Children with autism showed the lowest performance in all sections of the test. They were mostly impaired in pantomime actions execution on imitation and on verbal command, and in imitation of meaningless gestures. Interestingly, a correlation was found between performance in pantomime actions and the severity of social behavior deficits. We conclude that the presence of a rigid internal model prevents the execution of an exact copy of the observed pantomime actions and that the deficit in imitation of meaningless gestures is most likely due to a deficit in the mechanisms responsible for visuomotor transformations.

Epileptic features in Cornelia de Lange syndrome: Case report and literature review

INTRODUCTION 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.

Symptomatic and presumed symptomatic focal epilepsies in childhood: An observational, prospective multicentre study

To describe the clinical, neuropsychological, and psychopathologic features of a cohort of children with a new diagnosis of symptomatic or presumed symptomatic focal epilepsy at time of recruitment and through the first month. The selected population will be followed for 2–5 years after enrollment to investigate the epilepsy course and identify early predictors of drug resistance.

Febrile and postinfectious myoclonus: case reports and review of the literature.

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 Childrens 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.

Unusual trigeminal autonomic pain heralding hemichorea due to zoster sine Herpete vasculopathy.

BACKGROUND Varicella zoster virus primary infection is responsible for chickenpox, whereas secondary infection or reactivation can lead to a variety of clinical scenarios. If latent infection is established in trigeminal ganglion, the reactivation can determine viral migration to cerebral arteries, which causes a cerebral vasculopathy and subsequently an ischemic stroke. PATIENTS Here we report on a child experiencing recurrent episodes of headache mimicking a trigeminal autonomic cephalalgia, in the absence of any skin rash, which were followed by the occurrence of an ipsilateral hemiparesis associated with a choreic movement disorder a month later. RESULTS Magnetic resonance angiography showed evidence of a right-sided infarction of basal ganglia and anterior limb of the internal capsule, corresponding to the vascular territory of the recurrent artery of Heubner, as a consequence of a focal varicella zoster virus arteriopathy. CONCLUSIONS We suggest that the recognition of this prodromal manifestation, which can be interpreted as a zoster sine herpete, could provide clinicians an extremely useful time window to start promptly with a prophylactic treatment.

Incidence of neonatal seizures, perinatal risk factors for epilepsy and mortality after neonatal seizures in the province of Parma, Italy

Information about the incidence of neonatal seizures (NS) is scarce. Previous studies relied primarily on a clinical diagnosis of seizures. This population‐based, retrospective study evaluated the incidence of electroencephalography (EEG)–confirmed seizures in neonates born in the province of Parma and the perinatal risk factors for mortality and epilepsy.

Transient posterior cerebral arteriopathy: An unusual case enterovirus-related

Transient Cerebral Arteriopathy (TCA) is one of the main causes of childhood stroke. Here we present an unusual case of Arterial Ischemic Stroke (AIS) caused by a TCA of posterior flow and originally located in the right thalamus. The detection of enterovirus in the cerebrospinal fluid allowed us to suppose a probable post infectious etiology. The course of symptoms was self-limited and the child had a complete clinical recovery after five days. A new ischemic lesion on the antero-inferior paravermian region of the left cerebellum was revealed by a following brain Magnetic Resonance Imaging (MRI) three months later and these findings were reported by further brain MRI control performed after 15 months. Comparing follow up Magnetic Resonance Angiography (MRA) with previous High Resolution Vessel Wall Magnetic Resonance Imaging (HRMI), we found a vessel narrowing at the level of the Posterior Inferior Cerebellar Artery that might explain the arteriopathy process. In conclusion, clinical and radiological course allow us to speculate that this multifocal cerebral arteriopathy might be a transient lesion due to enterovirus infection. To our knowledge, there are only three articles describing TCA enterovirus-related, and brain MRA was performed in only one case; in addition, no one with the involvement of the posterior circulation.

Early onset of propriospinal-like myoclonus in a child following a vertebral fracture

A 9-year-old girl presented with trunk and limb myoclonic status (video at Neurology.org) that started immediately after back trauma that caused a T7 vertebral body fracture without spinal involvement (figure). Myoclonic status became more severe after tactile stimuli and spontaneously disappeared within 32 hours. The jerk-locked back-averaging analysis excluded a cortical origin and the somatosensory evoked potentials, performed after 36 hours, were normal. Full neuropsychological examination and Child Behavior Checklist scores were within normal limits. This represents a novel presentation of early posttraumatic propriospinal-like myoclonus in a child. We hypothesize a transient spinal impairment due to mechanical compression.1,2