p.L1612P, a novel voltage-gated sodium channel Nav1.7 mutation inducing a cold sensitive paroxysmal extreme pain disorder.

Background: Mutations in the SCN9A gene cause chronic pain and pain insensitivity syndromes. We aimed to study clinical, genetic, and electrophysiological features of paroxysmal extreme pain disorder (PEPD) caused by a novel SCN9A mutation.

Methods: Description of a 4-generation family suffering from PEPD with clinical, genetic and electrophysiological studies including patch clamp experiments assessing response to drug and temperature.

When is a child with status epilepticus likely to have Dravet syndrome?

Purpose: To identify clinical risk factors for Dravet syndrome (DS) in a population of children with status epilepticus (SE).

Material And Methods: Children aged between 1 month and 16 years with at least one episode of SE were referred from 6 pediatric neurology centers in Switzerland. SE was defined as a clinical seizure lasting for more than 30min without recovery of normal consciousness.

The phenotype of recurrent 10q22q23 deletions and duplications.

The genomic architecture of the 10q22q23 region is characterised by two low-copy repeats (LCRs3 and 4), and deletions in this region appear to be rare. We report the clinical and molecular characterisation of eight novel deletions and six duplications within the 10q22.3q23.

Autistic spectrum disorder: evaluating a possible contributing or causal role of epilepsy.

The onset of epilepsy in brain systems involved in social communication and/or recognition of emotions can occasionally be the cause of autistic symptoms or may aggravate preexisting autistic symptoms. Knowing that cognitive and/or behavioral abnormalities can be the presenting and sometimes the only symptom of an epileptic disorder or can even be caused by paroxysmal EEG abnormalities without recognized seizures, the possibility that this may apply to autism has given rise to much debate. Epilepsy and/or epileptic EEG abnormalities are frequently associated with autistic disorders in children but this does not necessarily imply that they are the cause; great caution needs to be exercised before drawing any such conclusions.

Anaphylactic reaction and unrelated, subsequent, known side effects during therapy with thiethylperazine.

We report the first case presenting with successive anaphylactic reaction and extra-pyramidal syndrome after treatment with thiethylperazine maleate (thiethylperazine). Both reactions were caused due to this anti-emetic drug, but an additive effect of clemastine fumarate, prescribed to treat the anaphylactic reaction, is suggested by the sequence of events. We discuss the importance of knowing the pharmacological similitudes of common prescribed drugs in order to avoid the occurrence of side effects.

Acute brain perfusion disorders in children assessed by quantitative perfusion computed tomography in the emergency setting.

Objective: Perfusion computed tomography (CT) is a simple imaging technique that allows accurate quantitative assessment of brain perfusion. Perfusion CT is an ideal imaging technique to be used in the emergency setting and has thus gained recognition in the early management of adult acute stroke patients. Perfusion CT can be applied to children successfully by using adequate imaging protocols.

Surgical treatment of temporoparietooccipital cortical dysplasia in infants: report of two cases.

Purpose: Extensive multilobar cortical dysplasia in infants commonly is first seen with catastrophic epilepsy and poses a therapeutic challenge with respect to control of epilepsy, brain development, and psychosocial outcome. Experience with surgical treatment of these lesions is limited, often not very encouraging, and holds a higher operative risk when compared with that in older children and adults.

Methods: Two infants were evaluated for surgical control of catastrophic epilepsy present since birth, along with a significant psychomotor developmental delay.

Brain perfusion in children: evolution with age assessed by quantitative perfusion computed tomography.

Objective: The objective of this study was to assess the age-related variations of brain perfusion through quantitative cerebral perfusion computed tomography (CT) results in children without brain abnormality.

Methods: Brain perfusion CT examinations were performed in 77 children, aged 7 days to 18 years. These patients were admitted at our institution for both noncontrast and contrast-enhanced cerebral CT.