Infantile Spasms and Biotinidase Deficiency
نویسندگان
چکیده
منابع مشابه
Infantile 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 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...
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 کاملBiotinidase deficiency.
A three month old baby presented with refractory seizures, dermatosis and persistent metabolic acidosis. Biotinidase deficiency was diagnosed on enzyme assay. Patient responded dramatically to biotin supplementation.
متن کاملInfantile spasms Richard
Infantile spasms represent a seizure disorder with unique clinical and electroencephalographic (hypsarrhythmia) features and a poor prognosis including chronic intractable epilepsy and psychomotor retardation. The association of spasms and hypsarrhythmia, with or without mental retardation, defines West's syndrome. West's syndrome is not uncommon; the incidence is considered to be 0 16-0-42 per...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1994
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-8-2-8