Aminoacyl-transfer RNA (tRNA) synthetases ligate amino acids to specific tRNAs and are essential for protein synthesis. Although alanyl-tRNA synthetase (AARS) is a synthetase implicated in a wide range of neurological disorders from Charcot-Marie-Tooth disease to infantile epileptic encephalopathy, there have been limited data on their pathogenesis. Here, we report loss-of-function mutations in AARS in two siblings with progressive microcephaly with hypomyelination, intractable epilepsy, and spasticity.
View Article and Find Full Text PDFBackground: Early infantile Krabbe disease is rapidly fatal, but hematopoietic stem cell transplantation (HSCT) may improve outcomes if performed soon after birth. New York State began screening all newborns for Krabbe disease in 2006.
Methods: Infants with abnormal newborn screen results for Krabbe disease were referred to specialty-care centers.
Much confusion still exists about when to treat seizures related to stroke and what agents to use. Seizures may occur in the setting of ischemic stroke, intracranial hemorrhage, subarachnoid hemorrhage, and other cerebrovascular lesions. The epidemiology of poststroke seizures and patients at higher risk for developing poststroke epilepsy are identified.
View Article and Find Full Text PDFKrabbe disease is a rare inherited neurologic disorder affecting the central and peripheral nervous systems. The disease has four phenotypes: early infantile, later onset, adolescent, and adult. The only known treatment is hematopoietic stem cell transplantation, which is, in the early infantile form of the disease, most beneficial if performed before onset of clinical symptoms.
View Article and Find Full Text PDFAutism is associated with epilepsy in early childhood, with evidence suggesting that individuals with both autism and more severe cognitive impairment are at higher risk. However, the incidence of an abnormal electroencephalogram and/or epilepsy in the full range of pervasive developmental disorders (PDDs) is not well defined. This naturalistic study addresses the incidence of epilepsy and electroencephalographic abnormalities in children with PDDs.
View Article and Find Full Text PDFA clinical and radiologic diagnosis of acute disseminated encephalomyelitis was made in two children: a 6-month-old female who presented with focal seizures and thalamic and cerebral white matter lesions, and a 4.5-year-old male who presented with tremor and dystonia and had bilateral basal ganglia lesions, without evidence of active brain infection. Serial clinical and laboratory evaluations were supplemented by neuroimaging including routine magnetic resonance imaging and (1)H magnetic resonance spectroscopy.
View Article and Find Full Text PDFVagus nerve stimulation (VNS) with the neuro cybernetic prosthesis (NCP) is an approved treatment of partial seizures for patients 12 years and older. Developmentally disabled or mentally retarded patients with epilepsy may also benefit from VNS; however, their evaluation and management pose greater problems. A retrospective chart review was conducted on all patients diagnosed with mild to severe mental retardation who had an NCP implanted.
View Article and Find Full Text PDFSpeech and language delay is a common developmental or acquired disorder. It can be a feature of the autistic spectrum, and if regression of language coincides with epilepsy, the diagnosis of Landau-Kleffner syndrome is considered. Slow acquisition of language without regression is called developmental dysphasia.
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