Epilepsy in isolated parenchymal neurocutaneous melanosis: A systematic review.

PURPOSE: Neurocutaneous melanosis (NCM) is a rare congenital syndrome characterized by giant melanocytic cutaneous nevi and melanosis within the central nervous system (CNS), often sparing leptomeninges and concentrated in the brain parenchyma. Epilepsy and neurodevelopmental abnormalities are the only complications reported in children with isolated parenchymal melanosis. A minority of patients experience drug-resistant epilepsy, and up to now, no predictors of epilepsy prognosis have been identified. METHODS: In this systematic review, according to preferred reporting items for systematic review and meta-analysis (PRISMA) guidelines, we aggregated clinical cases of patients with isolated parenchymal melanosis affected by epilepsy, in order to recognize predictors of clinical outcome and to clarify indications of available therapeutic approaches. RESULTS: Sixteen articles (19 patients) were included in the final analysis from initial database research; 4 articles (4 patients) were selected from reference lists and 1 from conference abstracts (1 patient). In our series, distribution of parenchymal melanosis was the best predictor of epilepsy outcome: frequencies of seizure-free patients were different between cases of isolated/bilateral amygdale melanosis and those of multiple localizations (p = 0.037). Failure of antiepileptic drugs (AEDs) and/or surgical epilepsy therapy were associated with poor cognitive outcome (p = 0.03). CONCLUSION: Antiepileptic drugs were effective in the majority of patients with epilepsy with parenchymal melanosis. In case of multifocal distribution, more than one-third of patients presented a drug-resistant epilepsy. Epilepsy surgery is the best choice in patients with isolated amygdala localization. We propose the recognition of a multifactorial nature of cognitive impairment in neuromelanosis, emphasizing the role of drug-resistant epilepsy.

Prognostic factors in epileptic encephalopathies at onset in the first 2 years of life: The experience of a tertiary healthcare center in Italy.

INTRODUCTION: The aim of this retrospective cohort study was to identify some prognostic factors in anamnestic/clinical/instrumental data at the onset of epileptic encephalopathy (EE), for multiple outcome measures. METHODS: We recruited patients diagnosed as affected by EE at Sant'Anna University Hospital, with onset in the first 24 months of life, with follow-up lasting longer than 3 years. RESULTS: At the end of the follow-up, 6 patients (14%) died within 2 years of age; 20 patient (49%) had a drug-resistant epilepsy (DRE); 9 patients (22%) had a language development delay (LDD); 12 patients (30%) had an autism spectrum disorder (ASD); 20 patients (49%) had a global psychomotor impairment (GPI); 9 patients (22%) needed palliative care; and nobody had a normal psychomotor development. Preexisting developmental delay predicts death (p = 0.009), and in survivors, it is associated with a GPI (p < 0.001); patients with normal neurological examination at the onset of EE only develop a LDD (p = 0.020). Neuroimaging structural alterations are associated with DRE (p = 0.012) and with a GPI (p = 0.013). The history of perinatal risk factors predicts the worst prognosis (death: p = 0.035, GPI: p = 0.015, and access to palliative care: p = 0.007). The absence of early response to treatment is correlated to a poor long-term prognosis (GPI, p = 0.019; DRE, p = 0.001). The multivariate analysis confirms that a normal development at onset predicts the most favorable prognosis, both in terms of survival and cognitive outcome (OR [odds ratio] = 0.1). An early response to treatment is a protective factor for DRE (OR = 0.1). A perinatal pathology is confirmed as an independent prognostic factor of severe comorbidities (access to palliative care: OR = 10.4). SIGNIFICANCE: This study was conducted to recognize possible prognostic factors among onset data of patients with EE, considering multiple outcome measures. This study design represents an innovative element compared to available papers, which were centered on isolated endpoints of prognosis, such as the prediction of neurocognitive development impairment or drug resistance. The data obtained from the study confirm that EEs prognosis is generally, but not universally, poor. Structural etiology and/or lack of response to antiepileptic drug (AED) within three months are main risk factors for DRE. Normal development at the onset of EEs and early response to treatment are the main positive prognostic factors.

Pediatric Tuberculosis in Italian Children: Epidemiological and Clinical Data from the Italian Register of Pediatric Tuberculosis.

Tuberculosis (TB) is one of the leading causes of death worldwide. Over the last decades, TB has also emerged in the pediatric population. Epidemiologic data of childhood TB are still limited and there is an urgent need of more data on very large cohorts. A multicenter study was conducted in 27 pediatric hospitals, pediatric wards, and public health centers in Italy using a standardized form, covering the period of time between 1 January 2010 and 31 December 2012. Children with active TB, latent TB, and those recently exposed to TB or recently adopted/immigrated from a high TB incidence country were enrolled. Overall, 4234 children were included; 554 (13.1%) children had active TB, 594 (14.0%) latent TB and 3086 (72.9%) were uninfected. Among children with active TB, 481 (86.8%) patients had pulmonary TB. The treatment of active TB cases was known for 96.4% (n = 534) of the cases. Overall, 210 (39.3%) out of these 534 children were treated with three and 216 (40.4%) with four first-line drugs. Second-line drugs where used in 87 (16.3%) children with active TB. Drug-resistant strains of Mycobacterium tuberculosis were reported in 39 (7%) children. Improving the surveillance of childhood TB is important for public health care workers and pediatricians. A non-negligible proportion of children had drug-resistant TB and was treated with second-line drugs, most of which are off-label in the pediatric age. Future efforts should concentrate on improving active surveillance, diagnostic tools, and the availability of antitubercular pediatric formulations, also in low-endemic countries.

[Management of children with headache in a Pediatric Emergency Department before and after the introduction of the Second International Classification of Headache Disorders (ICHD-II)]. / Il percorso dei pazienti con cefalea in Pronto Soccorso pediatrico prima e dopo la seconda classificazione internazionale delle cefalee.

The aim of this study was to evaluate how the management of children admitted with headache to a Pediatric Emergency Department, was modified by the introduction of the Second International Classification of Headache Disorders ( ICHD-II) published in 2004. The complexity and average costs of the services provided to patients in 2002 and 2011 were compared. The results revealed a decrease in the number of tests performed and in-hospital admissions. However, tests were more complex, and an increase in requests of specialist advice was observed. We hypothesized that this change may be related to the introduction of ICHD-II, which suggests a more rational approach to the child with headache and a better use of hospital resources.

Neonatal hemifacial spasm and fourth ventricle mass.

Congential hemifacial spasm is a rare condition that is characterized by the occurrence of paroxysmal hemifacial contractions in neonates. We review the clinical, neurophysiological, neuroimaging, and histopathological findings, as well as the differential diagnosis, therapeutic approach, and outcome of all the described cases. Moreover, we report two new cases including the ictal video-electroencephalography recordings. Hemifacial spasm starts early in life, and is characterized by unilateral, involuntary, irregular tonic or clonic contractions of muscles innervated by the seventh cranial nerve. Hemifacial spasm is associated with eyelid blinking, and sometimes with breathing irregularities, hyperventilation, and/or other neurological manifestations (dystonic movements, nystagmus). Interictal and ictal video-electroencephalography did not reveal epileptiform abnormalities. In all cases, brain magnetic resonance imaging showed a mass involving the cerebellar peduncle, the cerebellar hemisphere, or the floor of the fourth ventricle. The semiology of the paroxysmal attacks is probably due to the activation of cranial nerve nuclei through intralesional hypersynchronous discharges, as shown by the intraoperative recordings and functional brain imaging described in the literature. We point out the importance of identifying such seizures in order to make an early diagnosis of the underlying cerebral lesion.

Pediatric Headache in Primary Care and Emergency Departments: Consensus with RAND/UCLA Method.

Headache is the most frequent neurological symptom in childhood and the main reason for admission to pediatric emergency departments. The aim of this consensus document is to define a shared clinical pathway between primary care pediatricians (PCP) and hospitals for the management of children presenting with headache. For the purposes of the study, a group of hospital pediatricians and a group of PCP from the Emilia Romagna's health districts were selected to achieve consensus using the RAND/UCLA appropriateness method. Thirty-nine clinical scenarios were developed: for each scenario, participants were asked to rank the appropriateness of each option from 1 to 9. Agreement was reached if ≥75% of participants ranked within the same range of appropriateness. The answers, results, and discussion helped to define the appropriateness of procedures with a low level of evidence regarding different steps of the diagnostic-therapeutic process: primary care evaluation, emergency department evaluation, hospital admission, acute therapy, prophylaxis, and follow-up. The RAND proved to be a valid method to value appropriateness of procedures and define a diagnostic-therapeutic pathway suitable to the local reality in the management of pediatric headache. From our results, some useful recommendations were developed for optimizing the healthcare professionals' network among primary care services and hospitals.

Multifocal Skin Tuberculosis: Report of A Case.

Tuberculosis (TB) is a severe problem in underdeveloped countries. Cutaneous TB is rare and often goes unrecognized. We report a Pakistani child with multifocal cutaneous and pulmonary TB. Microbiologic diagnosis was obtained when the abscesses were biopsied. Four-drug therapy produced rapid improvement of the lesions. A high level of suspicion must be maintained when evaluating children from countries at risk.

Circadian and seasonal variation of migraine attacks in children.

OBJECT: To investigate the rhythmicity of migraine episodes without aura in a pediatric population. METHODS: Time of occurrence of 2517 migraine attacks in 115 children was recorded, by means of a diary, both by hourly and monthly intervals. RESULTS: A significant circadian variation, characterized by a peak in the afternoon (P < .001) and one in the early morning (P= .002) was found. A seasonal peak was also observed between November and January, while a nadir was observed in July. CONCLUSIONS: The clustering of attacks in the morning and midday and in autumn-winter, with a minimum frequency in July, suggests that school activities may represent an important cause of migraine.

Carbon monoxide mediates vasodilator effects of glutamate in isolated pressurized cerebral arterioles of newborn pigs.

The excitatory neurotransmitter glutamate causes dilation of newborn pig cerebral arterioles in vivo that is blocked by inhibition of carbon monoxide (CO) production. CO, a potent dilator in cerebral circulation in vivo, is produced endogenously in cerebral microvessels via heme oxygenase (HO). In isolated pressurized cerebral arterioles (approximately 200 microm) from newborn pigs, we investigated the involvement of CO and the endothelium in response to glutamate. A CO-releasing molecule, dimanganese decacarbonyl (10(-8)-10(-6) M), dilated cerebral arterioles. Glutamate (10(-6)-10(-4) M) and 1-aminocyclopentane-cis-1,3-dicarboxylic acid (cis-ACPD; 10(-6)-10(-5) M), a N-methyl-D-aspartate (NMDA) receptor agonist, caused cerebral vascular dilation. Dilation of cerebral arterioles to glutamate and cis-ACPD was abolished by chromium mesoporphyrin (CrMP; 10(-6) M), a HO inhibitor. In contrast, CrMP did not alter dilation to isoproterenol, a -adrenergic receptor agonist. Endothelium-denuded cerebral arterioles did not dilate to glutamate or bradykinin (endothelium-dependent dilator), whereas responses to isoproterenol were preserved. These data indicate that cerebral arterioles from newborn pigs may directly respond to glutamate and the NMDA receptor agonists by endothelium-dependent dilation that involves stimulation of CO production via the HO pathway in the endothelium.