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• W1574139024 abstract "In this paper four Dutch cases of early infantile neuronal ceroid lipofuscinosis (NCL) are described, all being boys. NCL is a group of diseases morphologically characterized by accumulation of autofluorescent ceroid lipofuscin-like pigment. Psychomotor deterioration, impairment of vision, and epileptic manifestations are the major clinical features. Onset in early infantile age is rare. We reviewed 71 cases reported in the literature, and compared the symptoms and signs with the findings in our patients. Psychomotor deterioration, visual impairment and myoclonic jerks are often observed early in the disease. Eventually, every patient shows psychomotor deterioration. The outcome is always lethal, usually within a few years. Special attention is paid to diagnostic procedures." @default.
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• W1574139024 date "1987-01-01" @default.
• W1574139024 modified "2023-10-14" @default.
• W1574139024 title "Early infantile form of neuronal ceroid lipofuscinosis" @default.
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• W1574139024 doi "https://doi.org/10.1016/s0303-8467(87)80049-5" @default.
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