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Am J Med Genet A ; 179(10): 2138-2143, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31290619


Autosomal recessive COX4I1 deficiency has been previously reported in a single individual with a homozygous pathogenic variant in COX4I1, who presented with short stature, poor weight gain, dysmorphic features, and features of Fanconi anemia. COX4I1 encodes subunit 4, isoform 1 of cytochrome c oxidase. Cytochrome c oxidase is a respiratory chain enzyme that plays an important role in mitochondrial electron transport and reduces molecular oxygen to water leading to the formation of ATP. Defective production of cytochrome c oxidase leads to a variable phenotypic spectrum ranging from isolated myopathy to Leigh syndrome. Here, we describe two siblings, born to consanguineous parents, who presented with encephalopathy, developmental regression, hypotonia, pathognomonic brain imaging findings resembling Leigh-syndrome, and a novel homozygous variant on COX4I1, expanding the known clinical phenotype associated with pathogenic variants in COX4I1.

Pediatr Neurol ; 86: 33-41, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30075875


OBJECTIVE: We aimed to evaluate and compare the status epilepticus treatment pathways used by pediatric status epilepticus research group (pSERG) hospitals in the United States and the American Epilepsy Society (AES) status epilepticus guideline. METHODS: We undertook a descriptive analysis of recommended timing, dosing, and medication choices in 10 pSERG hospitals' status epilepticus treatment pathways. RESULTS: One pathway matched the timeline in the AES guideline; nine pathways described more rapid timings. All pathways matched the guideline's stabilization phase in timing and five suggested that first-line benzodiazepine (BZD) be administered within this period. For second-line therapy timing (initiation of a non-BZD antiepileptic drug within 20 to 40 minutes), one pathway matched the guideline; nine initiated the antiepileptic drug earlier (median 10 [range five to 15] minutes). Third-line therapy timings matched the AES guideline (40 minutes) in two pathways; eight suggested earlier timing (median 20 [range 15 to 30] minutes). The first-line BZD recommended in all hospitals was intravenous lorazepam; alternatives included intramuscular midazolam or rectal diazepam. In second-line therapy, nine pathways recommended fosphenytoin. For third-line therapy, eight pathways recommended additional boluses of second-line medications; most commonly phenobarbital. Two pathways suggested escalation to third-line medication; most commonly midazolam. We found variance in dosing for the following medications: midazolam as first-line therapy, fosphenytoin, and levetiracetam as second-line therapy, and phenobarbital as third-line therapy medications. CONCLUSIONS: The pSERG hospitals status epilepticus pathways are consistent with the AES status epilepticus guideline in regard to the choice of medications, but generally recommend more rapid escalation in therapy than the guideline.

Artigo em Inglês | MEDLINE | ID: mdl-25720540


Epilepsy is a relatively common neurologic disorder in children that has important implications for development, parents, and society. Making the correct diagnosis starts with an accurate and complete history that consequently leads to a directed diagnostic workup. This article outlines a diagnostic and management approach to pediatric seizures and epilepsy syndromes. Making the correct diagnosis of epilepsy or nonepileptic imitators allows the practitioner to prescribe appropriate therapy. Initial management for typical epileptic syndromes and seizures and potential adverse effects are discussed. Alternative treatment options for pharmacologically resistant patients such as ketogenic diet, vagal nerve stimulation, and surgery are also discussed. While most children favorably respond to antiepileptic medications, early identification of medication failure is important to ensure optimal neurodevelopment.

Epilepsia/diagnóstico , Epilepsia/terapia , Anticonvulsivantes/uso terapêutico , Criança , Diagnóstico Diferencial , Monitoramento de Medicamentos/métodos , Humanos , Convulsões Febris/diagnóstico , Convulsões Febris/terapia