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Sixteen children with infantile neuronal ceroid-lipofuscinosis (INCL), age range 0.5 to 5.4 years, were studied using EEG, electroretinograms (ERG), visual evoked potentials (VEP) and somatosensory evoked potentials (SEP). Electroencephalography was the first of these examinations to reveal abnormalities, however the EEG may be normal at the preclinical(More)
We report the clinical findings in 19 Finnish patients, including six pairs of siblings, with a new, early onset spinocerebellar ataxia. The slowly progressive clinical symptoms manifested between one and two years of age in previously healthy infants. The first manifestation of children at that age was clumsiness and loss of ability to walk. Ataxia,(More)
We present ocular findings of 20 patients with the recessively inherited muscle-eye-brain (MEB) disease, characterised by severe visual failure, mental retardation, a pachygyria-polymicrogyria type neuronal migration disorder and congenital muscular dystrophy. The ocular findings consisted of myopia ranging from -6 to -27 D, retinal degeneration and optic(More)
A series of five patients with a variant type of Jansky-Bielschowsky disease is presented. The disease initiated between four and a half and seven years with mental and slight motor symptoms. The additional neurological symptoms and signs, i.e. visual failure, retinal degeneration, ataxia, myclonia and epilepsy developed in all children before the age of(More)
The data for 125 patients with Spielmeyer-Sjögren's disease is presented. Antioxidant therapy was given to 49. 27 received a combination of vitamin E, vitamin C, methionine and BHT. As the disease began to progress, the treatment was changed to a combination of sodium selenite and vitamin E in 14 of the 27 patients. The same therapy was also given to 22(More)
In this 8-year-old boy, who had been exposed to alcohol and oxazepam during pregnancy, visual failure was the first symptom of a neuronal ceroid lipofuscinosis (NCL) disorder, noticed at the age of 5 years. Ophthalmological examinations revealed a cystic type of macular degeneration, which would be more likely to be found in variant late infantile NCL.(More)
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