Lidocaine treatment in refractory status epilepticus resulting from febrile infection-related epilepsy syndrome: a case report and follow-up.

We report the management of refractory status epilepticus (SE) by using continuous intravenous infusions of lidocaine in a previously healthy 15-year-old girl with a "catastrophic encephalopathy" in whom a diagnosis of febrile infection-related epilepsy syndrome was supposed. One week after a banal pharyngitis and fever, the patient presented confusion and intractable clusters of seizures. Although she underwent multiple examinations investigating all possible etiologies (intracranial infection, autoimmune disease, or toxic and metabolic illness), all results were negative except a feeble positivity to Mycoplasma pneumoniae serum antibodies. SE was initially treated with benzodiazepine followed by administration of barbiturates and subsequent induction of coma because of refractory SE; different antiepileptic drugs (AEDs) were given at different times in a period of 6 weeks but clinical and electroencephalographic improvements were achieved only after continuous infusion of lidocaine. When she recovered from SE, the patient developed severe psychomotor and cognitive impairment associated with cerebral atrophy. Treatment with lidocaine or other alternative drugs in cases of prolonged SE should be taken into account as soon as it becomes clear that the clinical condition is refractory to common AEDs included in available guidelines for SE treatment, to improve the bad outcome of this severe condition, at least limiting the negative effects of prolonged high metabolic demand due to continuous epileptiform activity and/or the possible negative effects of prolonged burst-suppression coma.

Transient nonverbal learning disorder in a child suffering from Familial Hemiplegic Migraine.

OBJECTIVE: To study the link between nonverbal learning disorder and right cerebral hemisphere dysfunction due to migraine attack in a case of Familial Hemiplegic Migraine. BACKGROUND: Familial Hemiplegic Migraine can cause neuropsychological deficits besides the motor ones. The nonverbal learning disorder is thought to be caused by a right hemisphere dysfunction. METHODS: We describe a child with Familial Hemiplegic Migraine type 2 who showed a transient neuropsychological impairment featuring a nonverbal learning disorder during and after a Hemiplegic migraine attack. RESULTS: Clinical and neuropsychological data showed a nonverbal learning disorder. A mutation in the ATP1A2 gene on chromosome 1q23 was found. Symptoms of nonverbal learning disorder outlasted the left hemiparesis. Two months later he showed a full recovery. Neurophysiological and neuroradiological evaluations were congruent with clinical course and with right hemisphere involvement. CONCLUSION: The link between nonverbal learning disorder and right cerebral hemisphere dysfunction due to migraine attack is confirmed. Familial Hemiplegic Migraine can cause transient complex neuropsychological syndromes that can be overlooked if not appropriately investigated.

Unusual segmental narrowing of spinal cord responsible for child paraparesis.

We describe a 7-year-old girl with spastic paraparesis. Her clinical condition was due to a unusual segmental thoracic narrowing of spinal cord. We show the imaging of her spinal cord, we compare her condition with the few similar cases from the literature and we try to suppose an aetiology.

EEG findings in cooled asphyxiated newborns and correlation with site and severity of brain damage.

OBJECTIVE: EEG and MRI are useful tools to evaluate the severity of brain damage and to provide prognostic indications in asphyxiated neonates. Aim of our study is to analyze the relationship between serial neonatal EEGs and severity and sites of brain lesions on MRI in neonates undergoing hypothermia, following a hypoxic-ischemic injury. PATIENTS AND METHODS: Forty-eight term newborns underwent hypothermia. Serial videoEEG recordings were taken at 6, 24, 48 and 72 h and during 2nd week of life. Brain MRI was performed at the end of 2nd postnatal week and correlated with EEG. RESULTS: EEGs improved during the first days. At the first recording 25 infants showed a severe or very low amplitude EEG pattern while at the 2nd week only 7 showed such patterns. As regards MRI, 21 infants showed a predominant Basal Ganglia and Thalami damage, 4 infants showed a predominant focal Thalami lesion and 23 showed normal imaging or just mild White Matter abnormalities. Severity of EEG pattern was associated with the odds of having MRI lesions at Basal Ganglia, Thalami, White Matter, Internal Capsule, but not at Cortex. Infants who showed only mild EEG abnormalities in the first 2 days had no Basal Ganglia and Thalami MRI lesion. The persistence of a discontinuous EEG at the 2nd week recording is always associated with Basal Ganglia and Thalami damage. CONCLUSION: The severity of EEG background is associated with severity and site of MRI lesion pattern in neonates treated with hypothermia because of hypoxic-ischemic encephalopathy.

Poor repertoire General Movements predict some aspects of development outcome at 2 years in very preterm infants.

BACKGROUND: Observation of the quality of endogenously generated "General Movements" has been proved to be a reliable and sensitive tool in the assessment of fragile neonates. The absence of fidgety movements at 2-4 months post-term is highly predictive of Cerebral Palsy. On the contrary, the presence of a poor repertoire pattern during the writhing period is not reliable in predicting motor or neurobehavioral disorders at any stage of development. AIM: To examine if the presence of a PR pattern at 1 month post-term was associated with lower neurodevelopmental quotients at 2 years. STUDY DESIGN: General Movements evaluation at 1 and 3 months and the Griffiths Scales of Mental Development at 2 years were administered to a sample of very preterm infants. Infants were divided into two groups: poor repertoire pattern group and normal pattern group. Student's t Test and Chi squared test and ANOVA were used to compare neonatal variables and results between the two groups. SUBJECTS: 79 very preterm infants (birthweight≤1500 g or gestational age≤32 weeks), born January 2003 to December 2006 who had a follow-up at 2 years. OUTCOME MEASURE: Griffiths developmental quotient at 2 years. RESULTS: The Poor Repertoire group had lower Gestational Age, lower Birth Weight, lower Apgar scores at birth and lower Developmental Quotient at 2 years. Eye and Hand Coordination (subscale D) was the domain mostly responsible for such a difference. Quality of fidgety movements (normal or abnormal fidgety) at 3 months did not show any correlation with outcome measures at 2 years. CONCLUSION: The presence of a PR pattern at 1 month post-term seems to predict lower neurodevelopmental scores at 2 years especially in the domain of eye and hand coordination. Longer follow-up is necessary in order to ascertain if such difference will continue to persist at older ages.

A clinical and genetic study of 33 new cases with early-onset absence epilepsy.

PURPOSE: To investigate the electroclinical features and the outcome of patients with typical absences starting before the 3 years of life. METHODS: We reviewed the clinical data of patients with absences started before 3 years observed over a 15-year period. Mutation analysis of SLC2A1 (GLUT-1) gene was performed when possible. Their clinical features were compared with those of subjects with a diagnosis of childhood absence epilepsy (CAE). RESULTS: Among 33 children with absence epilepsy starting before 3 years of life, there were 20 boys and 13 girls. Mean seizure onset was at 28.0 ± 8.3 (range: 8-36) months of life. Two children displayed borderline intellectual functioning at long-term follow-up. Twenty-eight (85%) patients showed excellent response to therapy. Three subjects evolved into a different form of idiopathic generalized epilepsy (IGE). No SLC2A1 mutation was identified in 20 (60.6%) patients tested. The main clinical features of patients with early-onset absences did not differ from those of CAE except for increased prevalence of males (p=0.002) and longer treatment duration (p=0.001) in the former. CONCLUSIONS: Strong similarities in the electroclinical features and outcome between children with early-onset absences and those with CAE support the view that these conditions are part of the wide spectrum of IGE.