A randomized controlled trial of levodopa in patients with Angelman syndrome.

Treatment for Angelman syndrome (AS) is currently limited to symptomatic interventions. A mouse model of AS has reduced calcium/calmodulin-dependent kinase II activity due to excessive phosphorylation of specific threonine residues, leading to diminished long-term potentiation. In a rat model of Parkinson disease, levodopa reduced phosphorylation of various proteins, including calcium/calmodulin-dependent kinase II.

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is an episodic movement disorder with autosomal-dominant inheritance and high penetrance, but the causative genetic mutation is unknown. We have now identified four truncating mutations involving the gene PRRT2 in the vast majority (24/25) of well-characterized families with PKD/IC. PRRT2 truncating mutations were also detected in 28 of 78 additional families.

A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome.

Angelman syndrome (AS) is due to deficient ubiquitin protein ligase 3a, the gene for which (UBE3A) maps to chromosome 15q11-q13 and is imprinted such that only the maternally inherited gene is expressed. The paternally inherited UBE3A gene is silenced, a process mediated by an antisense transcript. We conducted a trial using methylation-promoting dietary supplements (betaine, metafolin, creatine, and vitamin B(12) ) in an attempt to reduce antisense transcript production, increase UBE3A expression, and ameliorate the symptoms of AS.

Multicentric infantile hemangiopericytoma: case report and review of the literature.

Hemangiopericytomas are rare tumors in which outcome varies with age of onset. Those developing in adults and older children tend to be aggressive with a poor prognosis. However, infantile hemangiopericytomas often behave in a more benign manner.

Angelman syndrome: Mutations influence features in early childhood.

Angelman syndrome (AS) is a neurodevelopmental disorder caused by a lack of expression of the maternal copy of UBE3A. Although the "classic" features of AS are well described, few large-scale studies have delineated the clinical features in AS. We present baseline data from 92 children with a molecular diagnosis of AS between 5 and 60 months old who are enrolled in the National Institutes of Health Rare Diseases Clinical Research Network Angelman Syndrome Natural History Study from January 2006 to March 2008.

Three-channel electroencephalogram montage in neonatal seizure detection and quantification.

We compared three-channel montage with 21-channel neonatal minimal placement montage for the detection of neonatal seizures and quantification of seizure burden. Thirty-five neonatal electroencephalograms were retrospectively and blindly reviewed by two independent readers. Tracings were analyzed in the three-channel montage for seizure number, duration, and quantification of seizure burden before reanalysis with the full 21-channel neonatal minimal placement montage.

Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options.

Purpose: Angelman syndrome (AS) commonly presents with epilepsy (>80%). The goal of this study was to examine the natural history and various treatments of epilepsy in AS in a large population.

Methods: A detailed electronic survey containing comprehensive questions regarding epilepsy in AS was conducted through the Angelman Syndrome Foundation.

Prediction of neurologic sequelae in childhood tuberculous meningitis: a review of 20 cases and proposal of a novel scoring system.

Background: Despite effective antituberculous medications, the mortality and morbidity remain high in children with tuberculous meningitis (TBM). The traditional clinical staging for TBM developed by Lincoln et al in 1960 has been widely used to predict long term neurologic sequelae (NS). In the current era of critical care medicine and corticosteroid therapy, a new scoring system is needed to predict NS more accurately in children with TBM.

Childhood primary angiitis of the central nervous system: two biopsy-proven cases.

Primary angiitis of the central nervous system is a rare idiopathic vasculitis predominantly affecting the central nervous system. The literature includes 10 histologically confirmed cases in childhood. We identify two additional cases, one presenting with both uveitis and cerebrospinal fluid neutrophilic pleocytosis, which has not been reported previously, and demonstrate the importance of biopsy in suspected cases.

Acute disseminated encephalomyelitis in childhood: epidemiologic, clinical and laboratory features.

Background: Acute disseminated encephalomyelitis (ADEM) is a central nervous system demyelinating disease that usually follows an apparently benign infection in otherwise healthy young persons. The epidemiology, infectious antecedents and pathogenesis of ADEM are poorly characterized, and some ADEM patients are subsequently diagnosed with multiple sclerosis (MS).

Methods: We retrospectively (1991-1998) and prospectively (1998-2000) studied all persons aged < 20 years diagnosed with ADEM from the 3 principal pediatric hospitals in San Diego County, CA, during 1991-2000.

Pediatric acute hemorrhagic leukoencephalitis: report of a surviving patient and review.

Acute hemorrhagic leukoencephalitis (AHLE) is a rare, fulminant CNS demyelinating condition usually diagnosed at autopsy. We report the clinical, laboratory, radiographic, and pathologic features of the first nonfatal case of pediatric AHLE confirmed by brain biopsy. Pathologic diagnosis of this condition may be critical to exclude more-common processes and to expedite the decision to administer high-dose corticosteroid therapy, which is potentially lifesaving.