Síndrome de West associada à lisencefalia: relato de caso

Abstract

Lissencephaly is a rare condition with a poor prognosis. It is characterized by a cerebral malformation due to deficient neuronal migration, which occurs between the 12th and 16th weeks of gestation. This deficient migration can generate changes in the cerebral parenchyma like agyria, pachigyria or heterotopic band. Due to the difficulty of clinical suspicion, it is essential to perform diagnostic imaging tests. It is a pathology with a poor prognosis that requires strict monitoring with a multidisciplinary team. It may beassociated with West Syndrome (WS), which is characterized as an epileptic encephalopathy based on a triad: epileptic spasms, hypsarrhythmia in electroencephalography (EEG) and developmental arrest or psychomotor delay. The highest incidence is in males and between 3 and 12 months, being more common in the first two years of life. This syndrome is epileptogenic and can be etiologically classified as cryptogenic and symptomatic, the latter has a structural cause in the central nervous system, such as lissencephaly. The diagnosis of SW is made by the union between clinical characteristics, electroencephalographic findings (EEG) and imaging tests. Treatment, due to the difficult control of seizures, is usually done with combination of multiple antiepileptics. The case described here reports the clinical evolution of a pediatric patient with lissencephaly associated with West syndrome, highlighting the main milestones of his clinical evolution until diagnosis.

Keywords

• spasms infantile
• developmental disabilities
• lissencephaly