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The existing data on the neurodevelopmental outcome of children born with an isolated atretic cephalocele (IAC) are scant. We aimed to expand upon these data by describing our experience with affected children, as well as assist parents and clinicians in deciding how to proceed when an IAC is diagnosed prenatally. A follow-up study was conducted on nine children who were born with an IAC. Evaluations were performed by pediatric neurologists and child development specialists. Developmental outcomes were based on a global development evaluation that assessed gross and fine motor skills, receptive and expressive language levels, activities of daily living, communication skills, and social domains. Adaptive skills were estimated by the Adaptive Behavior Assessment System, Second Edition. None of the nine children (median age 4 years and 6 months) had abnormal findings on neurological examination. Six children had age-appropriate developmental milestones, two had a mild motor delay, and one had mild expressive language delay (catchup was achieved by all of the latter three by ~ 3.5 years of age). The mean general adaptive composite score was 105 ± 11.7 (normal = 100). None of the children had behavioral, social, or communication problems. Children diagnosed with an IAC with/without a falcine sinus and devoid of coexisting intracranial abnormalities seem to have a normal neurodevelopmental outcome. Continuation of pregnancy may be recommended when an IAC is detected prenatally, and reassurance if detected postnatally.

Epilepsy is one of the most frequent CNS manifestations of tuberous sclerosis, and for most patients, it is the major debilitating factor. In up to 70% of the cases, the epilepsy is refractory and usually associated with significant behavioral as well as developmental consequences. Therefore, controlling seizures is one of the biggest medical and surgical challenges. Understanding the cellular mechanism involved in the disease empowered targeted research aimed toward early intervention in the epileptogenicity process. In this review, we present an update on the pharmacological treatments in tuberous sclerosis-related epilepsy.

Pediatric brain tumors (PBTs) are the most common solid tumors and the leading cause of cancer-related morbidity and mortality in childhood. Previous studies have shown a significant delay between the onset of symptoms and the diagnosis of these tumors. Delayed diagnosis of PBTs may lead to acute situations and irreversible neurological damage. In this study, we looked for the incidence of delayed diagnosis of PBTs in Israel. We tried to find the reasons for these delays and the associated risk factors in order to provide a feedback to the system for improved education and earlier diagnosis.We analyzed the charts of 330 consecutive children aged 0-18 years diagnosed with brain tumors, between the years 1996 and 2004. In the cases where delay in diagnosis was suspected, further information was collected from a family interview.The average "time to diagnosis" was 7.7 months (SD ± 16.7). Symptomatic deterioration from the first symptom until diagnosis was found in about 50% of the cases. Unacceptable delay in diagnosis was found in 27% of the children. The major reason for delay was "delay in indicated imaging." Symptoms that were found to be associated with delayed diagnosis were torticollis, ataxia, and motor dysfunction. Interestingly, the examination by specialists such as ophthalmologists or neurologists was also associated with delayed diagnosis.There is an unacceptable rate of delay in the diagnostic process of PBTs in Israel. Greater awareness and familiarity with signs and symptoms associated with these tumors and lowering imaging threshold might minimize this phenomenon.

The objective was to report our positive experience of using dexamethasone to treat 13 patients with symptomatic slit ventricle syndrome (SVS).Thirteen SVS patients who received dexamethasone during acute episodes were studied. The etiology for hydrocephalus was prematurity and intraventricular hemorrhage in 9 patients and neonatal meningitis, chorioamnionitis, Dandy-Walker variant, and congenital in 1 case each. The shunt was inserted at 1.8+/-1.0 months of age and SVS was diagnosed at 4.9+/-3.2 years of age.All patients reported relief and shorter duration of symptoms with dexamethasone. Surgical intervention was decided upon and carried out within 11+/-8 months of SVS diagnosis in 9 out of 13 patients. The other 4 are being monitored and continue to receive dexamethasone when needed.Dexamethasone appears to be a useful treatment in acutely increased intracranial pressure caused by SVS. It can provide temporary relief during the decision-making process of whether and when to perform surgery.