Respiratory chain complex I deficiency in an infant with infantile spasms.
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چکیده
منابع مشابه
Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency.
IMPORTANCE Isolated sulfite oxidase deficiency (ISOD) causes severe intellectual disability, epilepsy, and shortened life expectancy. Intractable seizures are invariable in children with ISOD; however, to our knowledge, infantile spasms with a corresponding hypsarrhythmia pattern on electroencephalogram have never been reported. In addition, the nonepileptic paroxysmal movement disorder hyperek...
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Dear Editor, Isovaleric acidemia (IVA) is a rare branched-chain organic acidemia caused by deficiency of isovaleryl-CoA dehydrogenase (IVD). Acute and chronic intermittent forms of IVA have been described. The acute form typically present during the neonatal period with acute encephalopathy, vomiting, dehydration, and severe metabolic acidosis. The chronic intemittent form is characterized by p...
متن کاملInfantile spasms.
Infantile spasms constitute both a distinctive seizure type and an age-specific epilepsy syndrome that have been extensively described for over a century. Standardization of the classification of infantile spasms has evolved, culminating in recent recommendations for separately recognizing and distinguishing the seizure type (spasms or epileptic spasms) and the epilepsy syndrome of infantile sp...
متن کاملInfantile spasms.
Overview Infantile spasms, also known as West syndrome, is a catastrophic childhood epilepsy with seizures that are difficult to control; it is associated with mental retardation. It usually has an onset during the first year of life, and typically between 4 and 8 months. Early recognition, careful diagnostic evaluation, and proper treatment may allow some children to attain seizure control and...
متن کاملInfantile spasms in children with Down syndrome.
Down syndrome (DS) is the most common genetic cause of mental retardation. It is estimated that 5-13% of persons affected by DS have seizures. Infantile spasms are the most common type of seizures and usually are well controlled with steroids and antiepileptic drugs. We present 11 children at the age of 3 years and 4 months to 10 years and 7 months with DS and infantile spasms, treated at Child...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1996
ISSN: 0022-3050
DOI: 10.1136/jnnp.60.3.349