Liberato and colleagues retrospectively analyzed brain magnetic resonance imaging (MRI) scans for brain lesion volume, Loes score, and growth over time in a cohort of boys biochemically or genetically diagnosed with adrenoleukodystrophy. Demographic data, genotype information, biochemical data, follow-up intervals, and brain lesion characteristics were recorded in all MRI scans. White matter changes were scored using the Loes MRI severity scoring system, and lesions were subdivided into 5 patterns based on primary anatomic distribution.

Migraines can be triggered by a variety of factors, including stress, sleep disruption, noise, odors, and diet. The recent discovery that the TRPA1 ion channel transduces oxidative stress and triggers neurogenic inflammation suggests that oxidative stress may be the common denominator underlying migraine triggers. The findings of a new Headache review indicate that many of these factors converge on a common pathway involving oxidative stress.

Encephalitis is a complex neurological syndrome caused by inflammation of the brain that occurs with highest incidence in children. It is challenging to diagnose and manage due to the variety of aetiologies and non-specific clinical presentations. We discuss the recent progress in clinical case definitions; review recent, large, prospective epidemiological studies; and describe aetiologies. We emphasise infectious causes relevant to children in Australasia but also consider emerging immune-mediated syndromes responsive to immune therapies. We identify priorities for future research in children, given the potential for climate change and international travel to influence the emergence of infectious agents in our...

Tuberous sclerosis complex (TSC) is a genetic multisystem disorder characterized by the development of hamartomas in several organs. Mutations in the TSC1 and TSC2 tumor suppressor genes determin overactivation of the mammalian target of rapamycin (mTOR) signaling pathway and subsequent abnormalities in numerous cell processes. As a result, mTOR inhibitors such as sirolimus and everolimus have the potential to provide targeted therapy for TSC patients. Everolimus has been recently approved as a pharmacotherapy option for TSC patients with subependymal giant-cell astrocytomas (SEGAs) or renal angiomyolipomas (AMLs). However, clinical evidence suggests that this treatment can benefit other TSC-associated disease...

A pathogenic role of immunity in epilepsies has long been suggested based on observations of the efficacy of immune-modulating treatments and, more recently, by the finding of inflammation markers including autoantibodies in individuals with a number of epileptic disorders. Clinical and experimental data suggest that both innate and adaptive immunity may be involved in epilepsy. Innate immunity represents an immediate, nonspecific host response against pathogens via activation of resident brain immune cells and inflammatory mediators. These are hypothesized to contribute to seizures and epileptogenesis. Adaptive immunity employs activation of antigen-specific B and T lymphocytes or antibodies in the context...

Tuberous sclerosis complex (TSC) is a leading genetic cause of epilepsy. TSC-associated epilepsy generally begins during the first year of life, and is associated with neurodevelopmental and cognitive problems. Management is challenging and seizures tend to persist in a large proportion of patients despite pharmacological and surgical treatment. This report summarizes the clinical recommendations for the management of TSCassociated epilepsy made by a panel of European experts in March 2012. Current treatment options and outstanding questions are outlined.

This article aims to provide a practical guide to the common causes of headache and their assessment in children. Contrary to popular belief, headaches are very common in children. The primary headache disorders, which include migraine and tension-type headache, account for the majority of headaches, while secondary headache, that is those with underlying pathology, are much less common. A thorough history and examination is the key to determining the cause and should be the most important means of reassuring the child and family that there is no serious cause for the headaches. To manage childhood headache you need to...

Status epilepticus is characterized by a prolonged, self-sustaining seizure or repeated seizures without return to baseline. The clinical manifestations of status epilepticus in children and adults range from overt generalized convulsions to more subtle behavioral manifestations, including unresponsiveness in the setting of the intensive care unit. Status epilepticus is the most common neurologic emergency of childhood. A large proportion of these episodes are the result of a prolonged febrile seizure or an acute symptomatic etiology.

In a substantial number of patients with epilepsy, the etiology of the seizure disorder remains unknown. In recent years, the detection of autoantibodies has contributed to the etiologic understanding of a substantial number of so far unexplained epilepsies.