Emanuela Claudia Turco

Neonatal Seizures: Relation of Ictal Video-Electroencephalography (EEG) Findings With Neurodevelopmental Outcome

Neonatal electroencephalographic background activity has been found to be a predictive factor of the neurodevelopmental outcome. The aim of our study was to identify if the electrical ictal findings present on the first electroencephalography (EEG) recording are related to the outcome of newborns with neonatal seizures. The study is based on the prospective evaluation of newborns consecutively admitted to the Neonatal Intensive Care Unit at the University of Parma between September 2001 and September 2004. Thirty-eight subjects were enrolled in the study on the basis of the following inclusion criteria: presence on the first EEG of at least 1 seizure, neurodevelopmental follow-up until 18 months of corrected age, and performance of several ultrasound brain scans during the neonatal period and of at least 1 cerebral MRI within the first year of life. For each seizure, the following were considered: onset topography, morphology of the epileptiform discharges, spread of the discharge, number of electrographic regions of seizure onset, number of seizures per hour, duration of the seizures, and the Ictal Fraction (= total duration of the seizures/duration of the EEG recording × hour). At the last follow-up, the unfavorable neurodevelopmental outcome seems significantly related to the moderate/severe background activity abnormalities (p = .006), to the spread of ictal discharge to the contralateral hemisphere (p = .02), and to the Ictal Fraction, when it exceeds 10 minutes (p = .036). In conclusion, the analysis of the propagation of the ictal discharge and of the Ictal Fraction might suggest significant prognostic information since the first hours of life.

Development of epilepsy in newborns with moderate hypoxic-ischemic encephalopathy and neonatal seizures

BACKGROUND Hypoxic-ischemic encephalopathy (HIE) is one of the most frequent causes of neonatal death or neurological handicaps such as cerebral palsy, mental delay, and epilepsy. Moreover, an acute consequence of HIE are neonatal seizures which can cause an additional brain damage. The neurodevelopmental outcome is known in the mild or severe cases of HIE, but in the moderate conditions the predictivity results, to date, unsatisfying. OBJECTIVE The purpose of this prospective study was to appraise the development of post-neonatal epilepsy in a cohort of term infants with moderate HIE and neonatal seizures. METHODS This study considered all newborns admitted to Neonatal Intensive Care Unit of the University of Parma between January 2000 and December 2002 for perinatal asphyxia, then followed by Neonatal Neurology Service. In all patients, neonatal variables such as type of delivery, birth weight, gestational age, Apgar scores, the need for resuscitation and assisted ventilation soon after birth, and arterial-blood pH were analyzed. RESULTS Ninety-two newborns were enrolled in the study because of perinatal asphyxia. Of these, 27 subjects developed mild HIE, 25 moderate, and five severe HIE. Neonatal seizures were present in 13 subjects with moderate HIE and in all newborns with severe HIE. At the last follow-up, only three infants belonging to patients with severe HIE developed epilepsy. CONCLUSION Moderate HIE seems not to be related to post-neonatal epilepsy either if associated or not with neonatal seizures.

Clinical and Polygraphic Improvement of Breathing Abnormalities After Valproate in a Case of Pitt-Hopkins Syndrome

Pitt-Hopkins syndrome is a rare genetic form of severe psychomotor delay, caused by mutations in transcription cell factor-4 gene and characterized by distinctive dysmorphic features and abnormal breathing pattern. The current report describes the polygraphic features of the syndrome’s typical breathing pattern in a patient both in wakefulness and in sleep. The control of these breathing alterations is important to prevent the neurological sequelae linked to chronic cerebral hypoxemia in early ages. No data are available on effective treatment options for breathing abnormalities of Pitt-Hopkins syndrome. The authors polygraphically documented a reduction of apneic and hypopneic phenomena, with a significant improvement in saturation values, after the introduction of sodium valproate.

Mortality Risk After Neonatal Seizures in Very Preterm Newborns

We analyzed clinical and instrumental data of 403 consecutive newborns with gestational age from 24 to 32 weeks, admitted to the University-Hospital of Parma between January 2000 and December 2007, to evaluate the possible relationship between neonatal mortality and occurrence of neonatal seizures in very preterm newborns. Seventy-four subjects died during hospital stay. Seizures were present in 35 neonates, in whom the mortality rate was 37.1%. Multivariate analysis revealed that birth-weight <1000 g (odds ratio: 4.48; 95% confidence interval: 1.47-13.68; P < .01), cardiopulmonary resuscitation (odds ratio: 5.35; 95% confidence interval: 1.19-23.98; P = .02), and moderately and severely abnormal cerebral ultrasound scan findings (odds ratio: 2.48; 95% confidence interval: 1.02-6.05; P < .04; odds ratio: 9.56; 95% confidence interval: 3.45-26.51; P < .01, respectively) were related to the in-hospital mortality but not the presence of neonatal seizures. Our study suggests that neonatal seizures alone are not an independent risk factor for early death in very preterm newborns.

Tap seizures in infancy: a critical review

Tap seizure is a type of reflex myoclonic epilepsy in which seizures are evoked mainly by unexpected tactile stimuli and which is classified among the electroclinical syndromes of infancy. This condition, whose onset is in the first two years of life, is characterized by excellent prognosis and is extremely rare. We reviewed all published articles and case reports on Reflex Myoclonic Epilepsies focusing on touch-induced seizures in order to clarify clinical and electroencephalographic findings. Our aim is to increase knowledge about this specific disorder in order to help pediatricians avoid extensive investigations when making their diagnosis and reassure parents regarding absence of long-term complications.

A novel temporal pattern of childhood cerebral X-linked adrenoleukodystrophy

We report a 9-year-old boy, with childhood cerebral X-linked adrenoleukodystrophy (CCALD), presenting with an episode of loss of consciousness, fixed gaze, hypotonia and vomit with spontaneous resolution and post-ictal sleep. Behavioural impairment has been observed since the previous five months. Magnetic Resonance Images (MRI) revealed isolated bilateral, symmetric, confluent temporal white matter lesions involving also corticospinal tracts, with sparing of the parieto-occipital and frontal white matter. This report outlines an atypical neuroradiological localization of X-linked adrenoleukodystrophy and neuropsychological findings not specifically related to the brain involvement seen at the MRI.

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

Hereditary Hemorrhagic Telangiectasia presenting as migraine: A case report

BACKGROUND 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.