<b>Objective:</b> To investigate the presenting characteristics of new-onset afebrile seizures in infants (age 1–24 months) and yield neuroimaging. <b>Methods:</b> Prospective data were obtained from a standardized evaluation management plan mandated by critical care pathway. A total 317 presented with between 2001 2007. EEG was performed on 90.3%, head CT 94%, MRI 57.4%. <b>Results:</b> We found half had partial features to their seizures, yet evidence for primary generalized rare. The...

Dravet syndrome is a rare epileptic encephalopathy linked to mutations in SCN1A (neuronal sodium channel α1 subunit) and characterized by an onset infancy with polymorphous seizure types developmental decline. It was reported recently that proportion of patients previously diagnosed alleged vaccine might possess clinical histories enabled diagnosis syndrome, but these results have not been replicated. We present here the cases 5 children who presented for epilepsy care presumed parental...

Early infantile epileptic encephalopathy‐9 (EIEE9) linked to mutations of the PCDH19 gene on X chromosome was once thought only affect females. Clinical features mutation include early onset variable types and frequency recurrent cluster seizures, mild profound intellectual disability, autistic traits, psychiatric features, behavioral disturbances. pathogenic variants usually occur via an unusual X‐linked pattern where heterozygous females are affected, but hemizygous males asymptomatic....

Rufinamide is a novel anticonvulsant medication approved by the US Food and Drug Administration (FDA) in 2008 for treatment of seizures associated with Lennox–Gastaut syndrome patients 4 years age older, based upon clinical trials demonstrating efficacy tolerability. especially effective tonic–atonic syndrome, but subsequently proving to be safe practice broad patient population refractory epilepsy. Although further research experience needed, rufinamide holds promise positively impact care...

Troyer syndrome is a complex hereditary spastic paraplegia (HSP) due to mutation in SPG20 first reported the Old Amish population. A genetic responsible for loss of function protein spartin this disease. Since its initial report, has also been Turkish and Omani families. Here we report case three patients Filipino descent with syndrome. Whole exome sequencing (WES) identified homozygous c.364_365delAT which predicts p.Met122Valfs*2 SPG20. This same affected from families, Although...

Our objective is to determine the prevalence of recurrent headaches in military-dependent children and study changes headache frequency, severity, duration during a parental deployment. Recurrent are common often intensified by stressful life events. Military-dependent subjected unique stressors, most significantly wartime No studies have evaluated effect deployment on somatic complaints, include headaches. We conducted parental, cross-sectional questionnaire-based patients aged 5 17 years...

Bilateral paramedian thalamic and mesencephalic infarcts are infrequently reported in adults, to our knowledge, has never been a child. The presumed etiology is an occlusion of the artery Percheron, uncommon vascular variation, which single common trunk from one P1 segments posterior cerebral provides bilateral irrigation thalami midbrain. adults associated with symptoms decreased arousal, vertical gaze paresis, mood changes, memory difficulties. Although some improvement these does occur,...

The comprehensive care of children with epilepsy involves not only the treatment seizures but also enhancement their quality life. Children developmental disabilities are often unable to attend traditional summer camps because safety concerns, as prevalence is high and tends be more severe. goal current study describe our experience at a camp adapted for disabilities, which U. S. military has had long-standing relationship. A retrospective chart review all young adults attending sessions...

A 6-month-old infant with LIS1 17p13.3 deletion-positive Miller-Dieker syndrome (MDS) presented increased seizures in the setting of a Pseudomonal and Enterococcal urinary tract infection buttock abscess associated lumbosacral dermal sinus tract. MRI neuraxis revealed lissencephaly (figure 1), tethered cord without lipoma or other mass 2A), an infected Communication spinal canal could not be appreciated 2B). The was explored found to extend into canal. This excised lateral drained. Tethered...

Abstract The spectrum of the neurological effects high-altitude exposure can range from headache and acute mountain sickness, to more severe end with cerebral edema. In general, patients known unstable preexisting conditions those residual deficits a condition are discouraged climbing high altitudes because risk exacerbation or worsening symptoms. Although multiple sclerosis exacerbations be triggered by environmental factors, has not been reported as potential trigger. We reporting case...

Vanishing White Matter disease (VWM) is an inherited progressive leukoencephalopathy caused by mutations in the genes EIF2B1–5, which encode for 5 subunits of eukaryotic initiation factor 2B (eIF2B), a regulator protein synthesis. VWM typically presents with acute neurological decline following febrile infections or minor head trauma, and subsequent cognitive regression. There varied clinical spectrum VWM, earlier onset associated more severe phenotypes. Brain magnetic resonance imaging...

Gorham-Stout disease (GSD), also known as vanishing bone disease, is a rare disorder, which most commonly presents in children and young adults characterized by an excessive proliferation of lymphangiomatous tissue within the bones. This often affects cranium and, due to proximate location dura surrounding cerebrospinal fluid (CSF) spaces, can result CSF leaks manifesting intracranial hypotension with clinical symptoms include orthostatic headache, nausea, vertigo. We present case boy GSD...

An 8-year-old boy developed near complete ophthalmoplegia (video and figure 1), sparing the pupils, with mild gait ataxia, areflexia.Miller Fisher syndrome was diagnosed after high titers of anti-GQ1b IgG, which are highly disease specific, 1 were found in serum.Nerve conduction, laboratory, Tensilon testing not suggestive alternative diagnoses.MRI Miller can show cranial nerve enhancement, 2 this patient revealed bilateral gadolinium enhancement III (figure 2).IVIg given improvement seen...

When social workers judge that an antisocially behaving adolescent has a mental disorder, what are the implications of attribution for other clinical judgments about youth? Clinical case vignettes satisfied DSM-IV diagnostic criteria conduct disorder were presented to 250 MSW students. Based on guidelines and “harmful dysfunction” analysis concept context symptoms in was manipulated experimentally suggest either internal dysfunction or normal response difficult environment as cause youth's...

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Abstract Legius syndrome is characterized by numerous café‐au‐lait macules and intertriginous freckling, but typically lacks the distinctive tumor manifestations of neurofibromatosis type 1. We report two siblings with Lisch nodules illustrating importance eye surveillance in these patients.

An 8-year-old boy with suspected psychogenic seizures was admitted for video-EEG monitoring.A stereotypical spell manifested as bilateral swinging extremity movements, and the patient proclaimed, "I'm doing disco!" (video on Neurology ® Web site at www.neurology.org).Right frontal-central rhythmic, sharp, fast activity (figure, A B) observed.MRI revealed seizure-related right frontal primary motor cortex hyperintense signal (figure ,C) near supplementary area (SMA).Bilateral involvement...