Polyunsaturated Fatty Acid Lipidosis: A New Nosological Entity
In 1963 Dr Bengt Hagberg saw in the Pediatric Service, University Hospital, Uppsala, a 2-year-old girl who was severely retarded, had no speech or grasping ability, could sit but not stand by herself and had pronounced truncal ataxia. Her reflexes were normal. She had no optic atrophy, but her vision was impaired, and she did not react in a normal manner to optic stimuli. Her EEG showed severe and diffusely spread abnormalities with an irregular delta activity and bilateral synchronous sharp waves of a low amplitude. She then rapidly deteriorated and half a year later she could no longer sit or utter any sound. Soon afterwards she lost the ability even to turn round, and her eye movements became irregular. Fits increased in frequency and intensity. When 2 years 9 months old she was soporous and in a neonatal motoric state with a flexion pattern, no head control and general floppiness. She then remained in a soporous state, quite flaccid and was unable to make any purposeful movements for more than three years and died at the age of 6 years.
KeywordsWhite Matter Fatty Acid Composition Cerebral Cortex Fatty Acid Pattern Monoenoic Acid
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