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The purpose of this retrospective study was to evaluate the visual outcome and recurrence rate of idiopathic intracranial hypertension in children. The study included 68 patients who were diagnosed with idiopathic intracranial hypertension according to the modified Dandy criteria. Permanent visual impairment was rare. Three percent remained with mild visual impairment, 4% with minimal visual field defects, and only 1 patient had severe visual impairment. However, 26% had either a prolonged course of disease or a recurring condition. Higher cerebrospinal fluid opening pressure was the only clinical predictor at presentation (P = .04). Recurrence rate was 18%, and in most cases, the second episode occurred during the first year after remission. There was no significant difference between the group of patients with only 1 episode and the group of patients with more than 1 episode. We suggest long-term follow-up after remission, for at least a year, for all children with idiopathic intracranial hypertension., (© The Author(s) 2015.)

The purpose of this retrospective study was to compare headache etiology, type, and burden and the learning and behavioral profile in children with early-onset (under 6 years) and late-onset (8-12 years) headaches. The study included 133 patients, 35 in the early-onset group and 98 in the late-onset group. Headache diagnosis was based on International Classification of Headache Disorders -II (ICHD-II) criteria. Learning profile and behavioral problems were assessed by parental reports. Tension headache was the most common diagnosis in the early-onset headache group (51.4%). No significant differences were found between the age groups with regard to headache etiology, disability, abnormal neuroimaging results, school performance, or attention problems. Nevertheless, the early-onset group patients had a significantly higher prevalence of behavioral problems: 25.7% versus 11.2% (P < .02). The authors suggest that early age of headache onset does not imply a harmful etiology or a relentless headache disability or burden.

The aim of the present study was to assess the emotional and cognitive aspects of social cognition among patients with rolandic epilepsy. A computerized neuropsychological battery was used for cognitive evaluation. Affective and cognitive social cognition were evaluated using two computerized Theory of Mind tasks. Cognitive abilities and social behavior of 15 children, diagnosed with rolandic epilepsy, ages 7 to 13 years were assessed and compared with 15 age- and education-matched healthy controls. Compared with controls, the epileptic patients had lower scores on verbal and visual learning rate parameters and on verbal processing and were significantly impaired on "affective Theory of Mind" tasks but not on "cognitive Theory of Mind" conditions. Our findings raise the possibility that rolandic epilepsy may affect neural networks affecting cognition and mediating social cognition essential for social behavior, thus challenging the benign nature of the condition.

We report herein 2 children who presented with acute deafness heralding an epileptic event manifesting thereafter by loss of consciousness and tonic generalized posturing, possibly reflecting a negative epileptic phenomenon. The first previously healthy male had 2 paroxysmal episodes 7 months apart, starting with acute deafness lasting for a few minutes followed by loss of consciousness and generalized tonic posturing for 10 minutes. Electroencephalography (EEG) during the second episodes demonstrated generalized epileptiform discharges. The second with previously controlled partial complex seizures presented with episodes of complete deafness lasting for a few minutes followed by loss of consciousness and focal tonic posturing lasting 10 minutes. Such acute deafness represented an aura of a focal seizure substantiated by right focal temporal epileptic discharges within the region of the primary auditory cortex. Therefore, EEG should be performed in any case of acute transient deafness, even in the absence of accompanying overt clinical seizures.

Every year, 7% to 15% of preschool children are found to be underqualified for first grade. We examined whether sleep disturbances are factors in school readiness and their association with neurocognitive skills and behavior. The population included 148 kindergarten students. The study group consisted of 50 students who were assessed by the educational authority as unready for first grade. Children who were scheduled to attend first grade (n = 98) were in the control group. All children/parents filled in a sleep questionnaire and underwent a week of actigraphic sleep/wake study as well as cognitive and behavioral assessments. Children in the study group had significantly shorter total sleep time, reduced sleep efficiency, and increased number of nighttime awakenings. There were significant correlations between sleep variables, and cognitive and behavioral scores. In conclusion, children who fail to qualify for first grade have significantly inferior sleep patterns. Sleep disturbances were associated with cognitive and emotional immaturity.

The purpose of this study was to estimate the prevalence of neurological causes for apparent life-threatening events in infants and assess the neurological work-up mandatory to diagnose such diagnosis, hypothesizing that acute neurological disorders constitute the most common etiology for such an acute event. A retrospective chart review allocated 93 infants fulfilling the criteria of the National Institutes of Health presenting at 1 week to 8 months with apnea, color changes, gagging, unresponsiveness, and alterations of body tone. An underlying neurological etiology was detected in 18 (19%), whereby 15 had seizures and 3 had central apnea. Only one electroencephalography demonstrated epileptic discharges, and brain imaging was intact. Thus, it has been concluded that neurological impairment, mainly that of seizures inducing an apparent life-threatening event, are relatively uncommon. As such, recommendations are that history taking and repeat physical examination still remain the major diagnostic tools before resorting to extensive laboratory studies.

Gelastic seizures comprise a very rare form of epilepsy. They present with recurrent bursts of laughter voices without mirth and are most commonly associated with the evolution of a hypothalamic hamartoma. The purpose of this article is to describe the second reported ictal fluorodeoxyglucose-positron emission tomography study in a unique case of an infant with intractable gelastic seizures since the neonatal period associated with a hypothalamic hamartoma. The patient presented at 4 months old with recurrent, almost persistent, gelastic seizures consisting of laughter bouts without mirth. The seizures were noticeable at the first week of life and increased in frequency to last up to 12 hours, namely status gelasticus. These gelastic fits were accompanied with focal motor seizures, including unilateral right-eye blinking and mouth twitching. Developmental mile-stones were intact for age. Magnetic resonance imaging of the cortex demonstrated a large hypothalamic hamartoma within the third ventricle, hampering cerebrovascular fluid drainage of the lateral ventricles. An electroencephalography was nondiagnostic. Ictal fluorodeoxyglucose-positron emission tomography demonstrated a large circumscribed hypermetabolic region within the location of the hypothalamic hamartoma, representing localized intense epileptiform activity. The infant became instantly free of all seizure types given minute doses of oral benzodiazepine (clonazepam) and remains completely controlled after 12 months. Her overall development remains intact. This ictal fluorodeoxyglucose-positron emission tomography is the second reported study verifying that the main source of the epileptic activity inducing gelastic seizures originates from the hypothalamic hamartoma itself; therefore, a complementary fluorodeoxyglucose-positron emission tomography study should be considered in any patient presenting with intractable gelastic seizures, especially in those associated with hypothalamic hamartoma, in order to localize the region of epileptiform activity amenable to surgical resection if intensive drug therapy fails.

The clinical features of 37 patients from 32 Israeli families with congenital myopathies evaluated between 1983 and 2004 are described: 13 children were diagnosed with congenital fiber type disproportion, 10 had myotubular myopathy, 7 had nemaline myopathy, 5 had central core disease, 1 had actin myopathy, and 1 had multi-minicore disease. There were 7 families (22%) that had parental consanguinity, and 4 families (12%) had more than 1 patient with congenital myopathy. Of the patients, 31 (84%) presented with clinical symptoms before 4 months of age, and 6 children (16%) presented after 1 year of age. Thirteen children (35%) had a severe phenotype with chronic ventilatory dependence or mortality before the age of 11 years. Facial weakness was associated with a severe phenotype. There was a high rate of a severe clinical phenotype in patients with myotubular myopathy (60%) and in patients with nemaline myopathy (57%), whereas in patients with congenital fiber type disproportion and in patients with central core disease, the proportion of a severe phenotype was lower (23% and 0%, respectively).

The Commission on Classification and Terminology of the International League Against Epilepsy Childhood rigidly segregated epilepsy with occipital paroxysms into 2 separate syndromes with different predominant seizure types: early-onset seizure susceptibility type consisting of prolonged infrequent, nocturnal autonomic seizures and accompanied by eye deviation and ictal vomiting and late onset with short diurnal frequent seizures and visual ictal manifestations along with throbbing headaches. Epileptic clinical manifestations and electroencephalographic data were analyzed in 28 patients with suspected occipital lobe epilepsy in an attempt to segregate them into either the early or late forms according to the International League Against Epilepsy classification. Electroencephalography in 25 children demonstrated occipital epileptiform paroxysms compatible with the suspected epileptic syndrome. Only 14 (50%) children complied with the rigid criteria of either early-onset or late-onset presentations. The other 14 (50%) children presented with mixed diverse epileptic phenomena such as short-lived seizures in infancy or prolonged seizures during childhood, not complying with either rigid syndrome (ie, short-lived epileptic blindness at an early age or vomiting during later childhood). Despite present attempts to rigidly segregate childhood epilepsy with occipital paroxysms into 2 distinct epileptic syndromes, a high percentage of children still present with various mixed clinical phenomena. Therefore, clinicians should be aware of possible unique and unusual presentations of occipital lobe epilepsy at various ages.

The incidence and natural history of childhood absence epilepsy are well documented, but those of juvenile absence epilepsy are poorly delineated. We conducted a retrospective chart study to evaluate the incidence and outcome of patients with juvenile absence epilepsy by retrieving the medical records of consecutive patients with juvenile absence epilepsy who were evaluated in three pediatric neurology outpatient clinics in Israel. Inclusion criteria included the onset of epilepsy after the age of 10 years and follow-up until at least 15 years of age. The patients with an electroencephalogram (EEG) suggestive of myoclonic epilepsy (polyspike and wave) were excluded from the study. Seventeen patients (10 female and 7 male) fulfilled the inclusion criteria for juvenile absence epilepsy. They presented with epilepsy at a mean age of 11.94 years (range 10-16.5 years). The mean duration of follow-up was 6.05 years (range 2-12 years). Five patients (29.4%) had a family history of epilepsy. All 17 patients had a normal neurodevelopmental status. Eight patients (47%) experienced generalized tonic-clonic seizures. At follow-up, eight patients (43.7%) were seizure free. Only three (37.5%) of the patients who experienced generalized tonic-clonic seizures were seizure free during follow-up compared with five (55.5%) patients without generalized tonic-clonic seizures. Our results indicate that the outcome of patients with juvenile absence epilepsy is less favorable than children with childhood absence epilepsy and that the presence of generalized tonic-clonic seizures is a predictor for poorer outcome.

The present study delineates a benign generalized epileptic disorder during infancy and early childhood similar to the well-defined syndrome of primary generalized epilepsy in adolescence. The inclusion criteria for the study required infants under the age of 4 years mainly presenting with generalized nonfebrile seizures, requiring corroboration with generalized epileptic discharges on electroencephalograms (EEGs); an unremarkable pregnancy, labor, and perinatal course; a favorable response to antiepilepsy drugs, preferably monotherapy; and a normal cognitive outcome. The clinical features of seizures, EEG correlates, response to medications, developmental outcome, and family history were analyzed. Twenty-five infants fulfilled the inclusion criteria, presenting at ages 4 to 36 months (mean 17 months) with recurrent generalized clonic seizures, which were commonly short-lived, lasting up to 5 minutes; two infants also had status epilepticus. Fourteen infants (56%) had accompanying febrile seizures, which preceded the nonfebrile seizures in 10 of them. A positive family history of seizures was found in 8 (32%) patients. Analysis of the EEG showed generalized epileptiform discharges in the form of 3 to 4 Hz spike-wave and normal background activity in 21 patients (84%), with a photosensitive response induced in 3 children. A larger group of 18 infants promptly responded to therapy, mainly valproic acid, which was terminated after 2 years, along with EEG normalization and no recurrence of seizures. A smaller group of 7 patients require prolonged therapy that keeps them seizure free; the EEG remains paroxysmal, and the seizures could recur when treatment is discontinued. All patients are presently seizure free within a follow-up period of 1.5 to 14 years. Their cognition is normal, but 12 patients have short attention and concentration spans, impulsiveness, and learning difficulties. As such, the data presented here delineate an idiopathic generalized epileptic disorder during infancy with a benign course, a rapid response to therapy, and preservation of cognitive skills that may be added to the current classification of the epileptic syndromes.

Acute blindness is a rare presentation of epileptic seizures, referring to loss of sight without loss of consciousness associated with electroencephalographic (EEG) epileptic discharges, mainly representing an ictal phase but also either pre- or postictal. We report a series of 14 children with documented epileptic blindness, describing the accompanying fits and thereafter the response to therapy to resolve the blindness and control associated seizures. All patients experienced episodes of acute complete visual obscuration lasting for 1 to 10 minutes. Seven patients hadaccompanying generalized seizures, with a photosensitive response recorded in three of them. All of these seven children were treated with valproic acid, regaining full vision, and six of them became seizure free. Three patients with acute blindness who had accompanying focal motor seizures and unilateral temporooccipital posterior epileptic discharges were treated with carbamazepine regained full vision and complete seizure control. Four additional children had the constellation of migrainous headaches, focal motor phenomena, and complete blindness, along with occipital discharges compatible with Gastaut syndrome, benign childhood epilepsy with occipital paroxysms. All four patients were started on carbamazepine and became asymptomatic. Our overall experience suggests that epileptic blindness in children is associated with a favorable outcome when promptly diagnosed and treated appropriately, resulting in complete resolution of blindness in all children and satisfactory control of seizures in most of them. We therefore recommend performing a prompt EEG in any child presenting with acute visual obscuration, even in the absence of other epileptic phenomena.

We compared the therapeutic efficacy of carbamazepine versus sulthiame in patients with benign childhood epilepsy with centrotemporal spikes. Drug efficacy was evaluated only in those patients who initiated treatment with any drug after at least three seizures. Thirty-eight patients who received carbamazepine and 18 patients who received sulthiame were included in the analysis. Cessation of seizures was observed in 73.6% of the former and in 66.7% of the latter (P = not significant). Five of eight patients who were switched to sulthiame after failing carbamazepine became seizure free, whereas none of the three patients who failed sulthiame became seizure free after being switched to carbamazepine. The rate of drug discontinuation owing to adverse reaction was 15% in carbamazepine and 14.3% in sulthiame. Normalization of interictal epileptiform activity on electroencephalography was seen more often following treatment with sulthiame (71%) than with carbamazepine (42%) (P = not significant). No significant differences between these two medications were found in the treatment of benign childhood epilepsy with centrotemporal spikes in this small patient sample.

Acute encephalomyelitis in children refers to an insult of cortical white matter leading to acute disseminated encephalomyelitis, insult of the spinal cord leading to multifocal myelopathy, or a combined form of encephalomyelitis. We report here the clinical presentations and outcome of 16 children with severe acute encephalomyelitis analyzing the effect of high-dose methylprednisolone or intravenous immunoglobulins, administered separately or in combination. Five children developed acute disseminated encephalomyelitis alone, eight developed severe multifocal myelopathy accompanied in two of them by radiculoneuropathy, and three developed the most severe form of combined encephalomyeloradiculoneuropathy. The indications for treatment with either high-dose methylprednisolone, intravenous immunoglobulin, or a combination of the two were severe acute disseminated encephalomyelitis, visual loss, or severe flaccid weakness accompanied by bladder and bowel incontinence. Overall, 10 children had remarkably responded to high-dose methylprednisolone alone and recovered within 10 days. One patient with severe myelopath, developing paraplegia, who failed oral corticosteroids completely recovered following intravenous immunoglobulin. Of the isolated acute disseminated encephalomyelitis group, all patients were initially treated with high-dose intravenous methylprednisolone and recovered within 10 days, including visual remission in the child with severe optic neuritis. All six children with solitary severe multifocal myelopathy were treated with high-dose methylprednisolone alone and recovered within the first week. Two patients had severe myeloradiculoneuropathy and were therefore treated with combined high-dose methylprednisolone and intravenous immunoglobulin: one remains paraplegic, whereas the second was ventilated for 3 weeks and recovered after 2 months. The three children with the most severe form of encephalomyeloradiculoneuropathy were treated with combined high-dose methylprednisolone and intravenous immununoglobulin; two remain severely handicapped, of whom one is paraplegic, and the third unexpectedly recovered within 3 months. Therefore, our experience indicates that either high-dose methylprednisolone or intravenous immunoglobulin, given separately or combined, may be efficacious in severe debilitating pediatric-onset acute encephalomyelitis. In children with the most severe form of encephalomyeloradiculoneuropathy, we suggest initially administering high-dose methylprednisolone and intravenous immunoglobulin combined, given the poorer outcome of our patients with combined severe central and peripheral demyelination.

Four nonrelated children with myopathic mitochondrial DNA depletion are described. Two of them initially had normal motor development and two had mild motor delay. Motor arrest and regression started at age 6 to 21 months. All four had mitochondrial DNA:nuclear DNA ratios reduced to 16 to 22% of the control mean and mutations in their mitochondrial thymidine kinase 2. Muscle pathology was genotype related: homozygosity for a missense mutation at position 181 was associated with severe myopathic changes, including marked variation in muscle fiber size, myofiber necrosis, regeneration, and interstitial fibrosis, whereas homozygosity for a missense mutation at position 90 was associated with essentially normal muscle histology. No ragged red fibers were detected in any study child. Mitochondrial DNA depletion should be considered in children with myopathy, worsening hypotonia, motor regression, and death during infancy or early childhood. The severity of pathologic findings on muscle biopsy is variable and may correlate with specific mutations and thymidine kinase 2 protein residual activity.

Twelve patients from 11 Israeli families with congenital muscular dystrophy were evaluated between 1991 and 2001. There were six males and six females, of whom six were merosin negative and six were merosin positive. Serum creatine kinase levels were highly elevated in the merosin-negative group. Four of the children were cognitively normal but nonambulant. Two had unusual clinical findings of severe cognitive and motor developmental dysfunction. Four infants in the merosin-positive group who had normal serum creatine kinase levels had early-onset severe motor weakness and died within the first year of life owing to ventilatory insufficiency. The other two were ambulant and had normal cognitive development and elevated serum creatine kinase levels. Noteworthy, two of the six children with merosin-negative congenital muscular dystrophy had cognitive impairment, and four of the six children with merosin-positive congenital muscular dystrophy had a severe form of the disease with ventilatory insufficiency and death during infancy.

This study aimed to characterize patients diagnosed as having benign childhood epilepsy with centrotemporal spikes and few seizures and compare them with patients with benign childhood epilepsy with centrotemporal spikes with multiple seizures. The medical files of 87 consecutive patients with benign childhood epilepsy with centrotemporal spikes were reviewed and data on gender, age at disease onset, duration of the disease, number of seizures, seizure semiology, and electroencephalographic and neuroimaging findings were analyzed. The mean age at disease onset was 8 years. The mean duration of the disease was 2 years. Eighteen percent of the patients had more than 20 seizures each, whereas 24% had 1 to 3 seizures each. The only predictor for a disease course with multiple seizures was an onset prior to 3 years of age.

Nonconvulsive status epilepticus is a prolonged and continuous state of increased unawareness without overt motor seizures linked with repetitive generalized epileptic discharges. In children, it may occur de novo but more commonly may complicate a preexisting epileptic disorder. We report on a 2-year-old female who presented with global developmental delay as the main manifestation of nonconvulsive status epilepticus. Following valproic acid treatment, her motor, cognitive, and speech delays had gradually subsided and nearly completely resolved, in concert with normalization of electroencephalography (EEG). Hence, given a possible, albeit rare, presentation of nonconvulsive status epilepticus with global developmental delay, we suggest that EEG should be recommended in any infant who manifests neurodevelopmental delay.

We report on a rare association of severe migraine headaches associated with coarctation of aorta that completely resolved following dilation of the constricted aorta. A 6-year-old girl presented with severe pounding headaches accompanied with recurrent vomiting, associated with photophobia and phonophobia. She experienced frequent awakenings with severe headaches and vomiting. The described excruciating, prolonged, and practically persistent headaches were not relieved by analgesics and ergotamines. Neurologic assessment and brain computed tomography were both normal. A systolic murmur at the third right intercostal space prompted a cardiac echocardiogram, which demonstrated coarctation of the ascending aorta beyond the orifice of the left common carotid artery. Catheterization revealed a systolic gradient of 54 mm Hg, and the constricted lumen of the aorta was then dilated by a balloon. The excruciating vascular headaches and associated symptoms had abated instantaneously following this procedure. To the best of our knowledge, this is the first report associating severe migraine headaches in a child with coarctation of the aorta. Given complete recovery following balloon dilation of the aorta, cardiac echocardiogram should be added to the diagnostic battery of children with severe unresponsive migraine.