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- W2550648528 abstract "Introduction. Proteus syndrome is a rare disorder associated with a mutation in the AKT1 gene. Its various clinical features have been broadly reviewed. However, no review on neurological complications has been provided since the MRI imaging became a routine and the cause of the disease has been discovered. Considering that roughly 40% of patients with Proteus syndrome develop neurological symptoms, it is essential to increase the awareness among pediatric neurologists. Aim, material and methods. The aim of this review is to present the most common neurological complications in patients with Proteus syndrome, emphasize the role of neuroimaging as well as assess the literature regarding available treatment. Articles available through PubMed and Medscape have been reviewed and those containing neurological complications have been collected for further analysis. Results. The most common clinical manifestation is cognitive impairment, followed by epilepsy. Other symptoms such as gait disturbance, hand tremor, headache, and abnormal muscle tone seem to occur sporadically. As regards seizures, the early-childhood onset was present in all cases and they were poorly controlled on antiepileptic drugs. The large number of brain lesions in CT and MRI scans have been documented, out of which the most common was hemimegalencephaly. Other CNS abnormalities were: meningiomas, lipomas, vascular malformations, lissencephaly, cortical dysplasias, cysts, hydrocephalus and cerebellar malformations. It was noted that Proteus syndrome patients can suffer from spinal cord compromise due to tumors’ infiltrations, scoliosis or bone abnormalities causing spinal stenosis. Conclusions. The neurological manifestations of Proteus syndrome are frequent and important hallmark of the disease. The awareness of them among neurologists may increase efficacy of the syndrome management." @default.
- W2550648528 created "2016-11-30" @default.
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- W2550648528 date "2015-01-01" @default.
- W2550648528 modified "2023-09-27" @default.
- W2550648528 title "Neurological manifestations of Proteus syndrome - review of the literature. Objawy neurologiczne w zespole Proteusza - przegląd literatury" @default.
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