EEG functional connectivity after perinatal stroke.

Impaired cognitive functioning after perinatal stroke has been associated with long-term functional brain network changes. We explored brain functional connectivity using a 64-channel resting-state electroencephalogram in 12 participants, aged 5-14 years with a history of unilateral perinatal arterial ischemic or haemorrhagic stroke. A control group of 16 neurologically healthy subjects was also included-each test subject was compared with multiple control subjects, matched by sex and age.

The role of visual electrodiagnostics in management of children with neurofibromatosis type 1.

Purpose: To evaluate the role of visual electrodiagnostic testing in children with neurofibromatosis type 1 (NF1) despite improved accessibility to magnetic resonance imaging (MRI).

Methods: The records from 39 children (78 eyes, 15 boys, 24 girls, average age at last visit of 11.5 ± 4.

Biallelic Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss.

Background And Objectives: To report on the novel association of biallelic variant in atonal basic helix-loop-helix transcription factor 1 () gene and pontocerebellar hypoplasia (PCH), severe global developmental delay, intellectual disability, and hearing loss in a family with 2 affected siblings.

Methods: A detailed clinical assessment and exome sequencing of peripheral blood sample were performed. Segregation analysis with Sanger sequencing and structural modeling of the variant was performed to support the pathogenicity of the variant.

Incidence of tonic spasms as the initial presentation of pediatric multiple sclerosis in Slovenia.

Tonic spasms (TS) are involuntary movement patterns that can present in patients with multiple sclerosis (MS). They have been first described decades ago, but are frequently missed and misdiagnosed, particularly in the pediatric MS patients and if appearing ahead of hallmark neurological signs and symptoms of MS. Slovenia is a country with the population of about 2 million people.

Beyond aphasia: Altered EEG connectivity in Broca's patients during working memory task.

Broca's region and adjacent cortex presumably take part in working memory (WM) processes. Electrophysiologically, these processes are reflected in synchronized oscillations. We present the first study exploring the effects of a stroke causing Broca's aphasia on these processes and specifically on synchronized functional WM networks.

A right-to-left shunt and prothrombotic disorders in pediatric patients presenting with transient ischemic attack.

Arterial ischemic stroke is an important cause of morbidity and mortality in pediatric population. A right-to-left shunt (RLS) across the patent foramen ovale was recently demonstrated as a possible risk factor for pediatric stroke. Prothrombotic disorders are frequently identified in pediatric patients with stroke.

Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation.

Recent study has shown that mutations in the alpha-II-spectrin (SPTAN1) gene cause early onset intractable seizures, severe developmental delay, diffuse hypomyelination, and widespread brain atrophy. We report a Slovene girl with hypotonia, lack of visual attention, early onset epileptic encephalopathy, and severe developmental delay. The patient presented with segmental myoclonic jerks at the age of 6 weeks, and infantile spasms at the age of 3.

VEP characteristics in children with achiasmia, in comparison to albino and healthy children.

Achiasmia is a rare disorder of visual pathway maldevelopment that can show diverse clinical and magnetic resonance imaging spectra. The aim of this study was to define the characteristics of visual evoked potentials (VEPs) that differentiate abnormal optic-nerve-fibre decussation in children with achiasmia versus children with albinism and healthy children. In four children with achiasmia, the following VEP characteristics were studied and compared to children with ocular albinism and with healthy control children: (a) flash and pattern onset VEP interhemispheric asymmetry; (b) flash N2, P2 and onset C1 amplitudes and latencies; (c) interocular polarity differences in interhemisphere potentials; and (d) chiasm coefficients (CCs).

A right-to-left shunt in children with arterial ischaemic stroke.

Objective: To compare the prevalence and grade of right-to-left shunt (RLS) in children with arterial ischaemic stroke (AIS) and in controls.

Design: Prospective study.

Setting: Tertiary paediatric referral centre.

Parkinson's disease dementia: clinical correlates of brain spect perfusion and treatment.

Background: The main clinical feature of dementia in Parkinson's disease is a dysexecutive syndrome. The neuropathology of PD dementia (PDD) is likely multifactorial and affects several neuronal populations. There is evidence that Parkinson's disease dementia is associated with a cholinergic deficit, supporting the therapeutic role of cholinesterase inhibitors, which are already first-line agents in the treatment of Alzheimer's disease.

An unusual case of high cervical spinal cord injury.

Isolated spinal cord injuries can rarely be found in patients with no traumatic radiological abnormalities of the spine. Stenoses of the medullary canal and degeneration of cervical spine are the predisposing factors. A case report of a 68-year-old patient is described, who developed quadriplegia with cardiac arrest due to isolated cervical spinal cord injury while jumping on a trampoline.

Patent foramen ovale and unexplained ischemic cerebrovascular events in children.

Objectives: To consider the role of patent foramen ovale (PFO) in ischemic cerebrovascular event of unknown cause in children.

Background: Data regarding the possibility of paradoxical embolism in unexplained ischemic cerebrovascular event in children are lacking.

Methods: Between January 2005 and March 2007, all consecutive children evaluated due to ischemic cerebrovascular event were included in the retrospective study.

VEP asymmetry with ophthalmological and MRI findings in two achiasmatic children.

Achiasmia is a rarely diagnosed visual pathway maldevelopment where all or the majority of nasal retinal fibres fail to decussate at the optic chiasm. It has been identified by neuroimaging and also by visual evoked potential (VEP) asymmetry. VEP asymmetry has not been defined consistently in previous studies.