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Lissencephaly: presentation of a clinical case of LIS 1 with a diagnosis confirmed by MLPA method and indications for rehabilitation treatment in childhood.
Neurocase 2024 May 4
Lissencephaly is a very rare clinical condition that affects the formation of the brain and causes severe psychomotor retardation, convulsions and muscular spasticity or hypotonia, often also associated with respiratory problems, facial dysmorphisms, abnormalities of the fingers and toes and difficulty swallowing resulting in reduced life expectancy. The clinical case described in the following article demonstrates the diagnostic process and rehabilitation treatment of a patient through a narrative review of the scientific literature and the presentation of this condition in order to provide indications to guide rehabilitation treatment in childhood.
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