Comprehensive four-year disease progression assessment of myotonic dystrophy type 1.

Myotonic dystrophy type 1 (DM1) is a heterogeneous neuromuscular disorder characterized by progressive muscle weakness and myotonia. This study investigates the progression of muscular strength and function over a four-year period. Patients with DM1 were examined at baseline and four years later.

Improved seizure control and regaining cognitive milestones after vagus nerve stimulation revision surgery in Lennox-Gastaut syndrome.

We report a child with Lennox-Gastaut syndrome with an increase in seizure frequency and loss of psychomotor skills due to a disintegrated cervical VNS lead, not detected during standard device monitoring. The lead was completely removed and replaced by a new 303 lead on the same nerve segment. After reinitiating VNS, side effects forced us to switch it off, resulting in immediate seizure recurrence.

Phenytoin as a last-resort treatment in encephalopathy.

encodes Nav1.6, one of the main voltage-gated sodium channel subunits in the brain, and mutations lead to epileptic encephalopathy. Particular mutations render the mutant channel more susceptible to inhibition by phenytoin.

[Idiopathic intracranial hypertension and obesity].

Background: Idiopathic intracranial hypertension (IIH) is a neurological syndrome characterized by elevated intracranial pressure in the absence of intracerebral abnormalities or hydrocephalus.

Case Description: A 17-year-old girl gained more than 25 kg in weight during treatment with risperidone and subsequently developed headache, diplopia and loss of vision due to IIH. After insertion of a ventriculoperitoneal drain and discontinuation of risperidone she lost weight and her symptoms improved.

Functional and structural network impairment in childhood frontal lobe epilepsy.

In childhood frontal lobe epilepsy (FLE), cognitive impairment and educational underachievement are serious, well-known co-morbidities. The broad scale of affected cognitive domains suggests wide-spread network disturbances that not only involves, but also extends beyond the frontal lobe. In this study we have investigated whole brain connectional properties of children with FLE in relation to their cognitive impairment and compared them with healthy controls.

Frontal lobe connectivity and cognitive impairment in pediatric frontal lobe epilepsy.

Purpose: Cognitive impairment is frequent in children with frontal lobe epilepsy (FLE), but its etiology is unknown. With functional magnetic resonance imaging (fMRI), we have explored the relationship between brain activation, functional connectivity, and cognitive functioning in a cohort of pediatric patients with FLE and healthy controls.

Methods: Thirty-two children aged 8-13 years with FLE of unknown cause and 41 healthy age-matched controls underwent neuropsychological assessment and structural and functional brain MRI.

Microstructural and functional MRI studies of cognitive impairment in epilepsy.

Cognitive impairment is the most common comorbidity in children with epilepsy, but its pathophysiology and predisposing conditions remain unknown. Clinical epilepsy characteristics are not conclusive in determining cognitive outcome. Because many children with epilepsy do not have macrostructural magnetic resonance imaging (MRI) abnormalities, the underlying substrate for cognitive impairment may be found at the microstructural or functional level.

Cognitive and behavioural findings in children with frontal lobe epilepsy.

Background: Frontal Lobe Epilepsy (FLE) is the second most frequent type of partial epilepsy and its onset is generally in childhood. Though cognitive and behavioural impairments have been described as co-morbid disorders in epilepsy, their extent in FLE, particularly in children, remains unknown.

Aims: In this study, we assess cognitive skills and behaviour in a cohort of paediatric FLE patients.

Tract specific reproducibility of tractography based morphology and diffusion metrics.

Introduction: The reproducibility of tractography is important to determine its sensitivity to pathological abnormalities. The reproducibility of tract morphology has not yet been systematically studied and the recently developed tractography contrast Tract Density Imaging (TDI) has not yet been assessed at the tract specific level.

Materials And Methods: Diffusion tensor imaging (DTI) and probabilistic constrained spherical deconvolution (CSD) tractography are performed twice in 9 healthy subjects.

Cognitive and behavioral complications of frontal lobe epilepsy in children: a review of the literature.

Frontal lobe epilepsy (FLE) is considered the second most common type of the localization-related epilepsies of childhood. Still, the etiology of FLE in children, its impact on cognitive functioning and behavior, as well as the response to antiepileptic drug treatment in children has not been sufficiently studied. This review focuses on these aspects of FLE in childhood, and reveals that FLE in childhood is most often cryptogenic, and impacts on a broad range of cognitive functions.

Vasospasm is a significant factor in cyclosporine-induced neurotoxicity: case report.

Background: The aetiology of central nervous system lesions observed in cerebral cyclosporine neurotoxicity remains controversial.

Case Presentation: We report a 48-year-old woman with a non-severe aplastic anaemia who presented with stroke-like episodes while on cyclosporine treatment.Transcranial Doppler ultrasound revealed severely elevated flow velocities in several cerebral vessels, consistent with vasospasm.

An unusual cause of transient neurologic deficits: compression of the carotid artery by a thyroid cystic nodule.

We report a case of a 93-year-old man, who presented with limb-shaking transient ischemic attacks (TIAs) after orthostatic position change or turning his head to the left. The limb-shaking TIAs resulted from external compression of the carotid artery. Contrast-enhanced magnetic resonance angiography of the head and neck and Doppler ultrasound examination of the thyroid gland revealed a large cystic nodule in the right thyroid lobe, resulting in compression and posterior displacement of the right common carotid artery.

Lethal African trypanosomiasis in a traveler: MRI and neuropathology.

The authors report a case of human African trypanosomiasis with CNS involvement caused by Trypanosoma brucei rhodesiense in a 52-year-old woman, which relapsed after melarsoprol treatment. After a second regimen, she developed a severe toxic polyneuropathy, progressing to coma and eventually death. MRI revealed rapidly progressive multiple white matter lesions as well as damage of the central gray matter and cortex.