Familial infantile spasms and hypsarrhythmia associated with leucodystrophy
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چکیده
منابع مشابه
Teaching neuroimages: infant with glutaric aciduria type 1 presenting with infantile spasms and hypsarrhythmia.
A 7-month-old boy with glutaric aciduria type 1 (GA1) presented with 1 week of clustered flexor spasms. Examination revealed mild axial hypotonia without encephalopathy. Video-EEG monitoring revealed hypsarrhythmia and infantile spasms (figure, A). MRI showed acute basal ganglia injury (figure, B). After 3 weeks of prednisolone treatment, 5-month follow-up showed continued resolution of hypsarr...
متن کاملInfantile Metachromatic Leucodystrophy.
Metachromatic leucodystrophy is an uncommon type of diffuse cerebral sclerosis. This condition is found at various ages, but it is convenient to classify cases into congenital, infantile, juvenile, and adult varieties. The infantile form, which presents a fairly constant clinical and pathological pattern, was first described by Greenfield (1933) who recorded two cases, and four further examples...
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 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...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1966
ISSN: 0022-3050
DOI: 10.1136/jnnp.29.2.129