West syndrome (infantile spasms) is an epileptic encephalopathy that includes psychomotor deterioration. In rare cases, it is due to an inherited, progressive metabolic disease. More than 25 inborn errors of metabolism have been considered etiologic or predisposing factors for infantile spasms. This is a review of the literature on reported cases of children diagnosed with a metabolic disease w...

BACKGROUND To gain more insight into genetic causes of cerebral visual impairment (CVI) in children and to compare ophthalmological findings between genetic and acquired forms of CVI. METHODS The clinical data of 309 individuals (mainly children) with CVI, and a visual acuity ≤ 0.3 were analyzed for etiology and ocular variables. A differentiation was made between acquired and genetic causes....

BACKGROUND Recent outbreaks of West Nile virus infection have alerted the public to disabling paralysis as an outcome. Ocular motor involvement with West Nile virus is rare. OBJECTIVE To describe a patient with West Nile virus encephalitis that resulted in opsoclonus-myoclonus syndrome with persistent ocular oscillation on electroencephalography during stage 2 sleep. PATIENT A 53-year-old m...

The ketogenic diet is a medically supervised high-fat, low-carbohydrate diet that has been found useful in patients with refractory epilepsy. It has been shown to be effective in treating multiple seizure types and epilepsy syndromes. In this paper, we review the use of the ketogenic diet in epileptic encephalopathies such as Ohtahara syndrome, West syndrome, Dravet syndrome, epilepsy with myoc...