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- W4386822654 abstract "Case presentation: M.I.L.S, female, 7 years old, daughter of consanguineous parents. The mother reports that the child was healthy until she was 5 years old, when she started having episodes of frequent falls and myoclonic crises, lasting less than 1 minute, without loss of consciousness, cyanosis or sphincter release. After these episodes, there was regression in neuropsychomotor development, progressive weakness in lower limb, reduced speech, and dysphagia. She was sent to a child neurologist for investigation. On physical examination, cognitive loss (does not form sentences and does not understand commands), proximal weakness, patellar reflex: +3, radial reflex: +2, positive Babinski and absence of cutaneous-abdominal reflex were evidenced. In the service, an MRI of the skull was done, which showed encephalic volumetric reduction. Accordingly, a genetic panel for epilepsy was conducted, which confirmed the diagnosis of neuronal ceroid Lipofuscinosis (NCL) type 1." @default.
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- W4386822654 date "2023-09-01" @default.
- W4386822654 modified "2023-09-27" @default.
- W4386822654 title "Neuronal ceroid lipofuscinosis type 1: a case report" @default.
- W4386822654 doi "https://doi.org/10.1055/s-0043-1774602" @default.
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