Tremors: Essential Tremor and Beyond.

Tremor is a fairly common movement disorder presenting to an outpatient pediatric neurology practice. Tremors can be primary or secondary to underlying neurologic or systemic diseases. When assessing a child with tremor, it is paramount to evaluate the phenomenology of the tremor, determine the presence or absence of other neurologic signs and symptoms, and the possible modifying influence of medications. Proper classification is essential for specific diagnosis and prompt adequate management. Treatment considerations should take into account objective assessment of tremor severity and the degree of disability or impairment experienced by the child. Overall effectiveness of pharmacologic treatments of tremor is unfortunately disappointing. In this article we review the clinical examination, classification, and diagnosis of tremor. The pathophysiology of the different forms of tremor is outlined, and treatment options are discussed.

Efficacy and Tolerability of Lacosamide in the Treatment of Children With Refractory Generalized Epilepsy.

Lacosamide is FDA-approved in patients 17 years or older with partial-onset epilepsy. We evaluated the efficacy and tolerability of lacosamide in children with refractory generalized epilepsy. We retrospectively reviewed records of 21 children with refractory generalized epilepsy treated with lacosamide in our institution from 2009-2013 divided into 2 subgroups- I, Lennox-Gastaut Syndrome, and II, other generalized epilepsies. Efficacy was defined as seizure freedom or ≥50% seizure reduction. Descriptive data analysis including seizure freedom was compared using c(2) analysis. There were eleven females and ten males with a mean age, of 11.9 years. Five patients became seizure free, nine had ≥50% seizure reduction, and seven had no response. Group I: seven had ≥50% improvement, one did not respond. Group II: five became seizure free, two had ≥50% improvement, five had no response. Lacosamide is effective and well tolerated in children with refractory generalized epilepsy particularly patients with Lennox-Gastaut Syndrome.

A Patient With Atypical Multiple Sulfatase Deficiency.

BACKGROUND: Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder characterized by the absence of several sulfatases and resulting from mutations in the gene encoding the human C (alpha)-formylglycine-generating enzyme. There have been a variety of biochemical and clinical presentations reported in this disorder. PATIENT DESCRIPTION: We present a 4-year-old girl with clinical findings of microcephaly, spondylolisthesis and neurological regression without ichthyosis, coarse facies, and organomegaly. RESULTS: The child's magnetic resonance imaging demonstrated confluent white matter abnormalities involving the periventricular and deep cerebral white matter with the U-fibers relatively spared. Biochemical testing showing low arylsulfatase A levels were initially thought to be consistent with a diagnosis of metachromatic leukodystrophy. The diagnosis of multiple sulfatase deficiency was pursued when genetic testing for metachromatic leukodystrophy was negative. CONCLUSION: This child illustrates the clinical heterogeneity of multiple sulfatase deficiency and that this disorder can occur without the classic clinical features.

EEG Duration: The Long and the Short of It.

Current American Clinical Neurophysiology Society guidelines require a minimum of 20 minutes of artifact-free EEG recording; however, the optimum duration for routine EEGs is not established. Our hypothesis was that an EEG recording of 40 minutes' duration would yield more information than a 20-minute EEG in capturing epileptiform abnormalities and in obtaining sleep. We retrospectively studied 150 consecutive EEGs of 40 minutes' duration performed at St Christopher's Hospital for Children. Although the majority (89%) of interictal EEG abnormalities can be identified within the first 20 minutes of a routine EEG, extending the time of a routine EEG increases the yield significantly by identifying an additional 11% of abnormal studies (P = .0001), precluding the need for further long-term monitoring in these patients. Forty-three percent of interictal epileptiform abnormalities were found during sleep. We recommend that routine EEGs be performed for 40 minutes, whenever possible, to improve yield in a cost-effective manner.

Status epilepticus: immunologic and inflammatory mechanisms.

Status epilepticus (SE) can be difficult to treat, particularly if refractory, and lead to significant morbidity and mortality. Prolonged seizures are also a risk factor for the subsequent diagnosis of epilepsy. Activation of the immune system and inflammation are areas of recent interest in the field of epilepsy, and there is growing evidence that these may be involved in the pathogenesis of ongoing SE and subsequent epileptogenesis. We review the current data on this topic in both animal models and human disease. We conclude that there is evidence suggesting a role for immunologic and inflammatory mechanisms in SE. Further research, especially human studies, is necessary to determine whether targeting the immune system would improve control of SE and prevent sequelae such as epileptogenesis.