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- W1969265749 abstract "Spielmeyer-Vogt-disease (juvenile neuronal ceroid-lipofuscinosis, Batten's disease) is one of a group of severe inherited neurodegenerative disorders called neuronal ceroid-lipofuscinosis, being characterized by accumulation of ceroid-lipofuscin within different organs of the body. A patient is described who developed visual, intellectual and motor deterioration as well as recurrent seizures during an observation period of 21 years. At the age of ten years vacuoles and fingerprint-profiles in lymphocytes and fingerprint-profiles beside curvilinear bodies in dermal cells lead to the diagnosis juvenile neuronal ceroid-lipofuscinosis. Clinical assessment of vision, intellect, language, motor function and epilepsy established a scoring system. The practicability of this scoring system is documented by the particularly poor clinical course of the disease over 21 years in our patient. Since there is no causal therapy the continuous care by the pediatrician for the whole family is of great importance." @default.
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- W1969265749 date "1992-02-01" @default.
- W1969265749 modified "2023-09-25" @default.
- W1969265749 title "Verlauf einer Spielmeyer-Vogt-Krankheit über 21 Jahre" @default.
- W1969265749 doi "https://doi.org/10.1055/s-2007-1025333" @default.
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