*Correspondence: gabriellemmp1@hotmail.com.
Abstract
Case Presentation: MESL, 2 years and 7 months old, female, born at term by cesarean delivery. During
pregnancy, the mother had a urinary tract infection twice, as intercurrences. At 5
months, she began to have seizures, spasm-in-flexion type, in clusters. She performed
an electroencephalogram (EEG), which displayed a pattern of hypsarrhythmia, and initiated
pharmacological treatment for West Syndrome (WS). At 11 months, she began to walk,
although she did not crawl. At 16 months, she had neuropsychomotor developmental delay
(NPMD). She had daily, persistent seizures even with pharmacological treatment. At
21 months, she presented autistic traits, such as dysfuntional playing, poor eye-to-eye
contact, unresponsiveness to calls and speech delay. She also had inadequate gait
and irritability when standing up. At 27 months, in addition to daily atonic seizures,
she had difficulty walking, global hypotonia, profound hyporeflexia, irregular sleep
and autistic traits, making use of several anticonvulsant drugs.
Discussion: The case describes complications related to SW, a rare epileptic encephalopathy caused
by environmental and genetic factors. This condition, in addition to generating hypsarrhythmia
on the EEG, causes frequent epileptic spasms, starting up to the first year of life,
and affects the neurodevelopment of children, who tend to have learning difficulties,
behavior problems, autism and other sequelae of the disease. The frequency of epileptic
seizures is fundamental for the patient's prognosis, because, with each abnormal electrical
discharge, thousands of neurons are affected, which can permanently injure brain regions
responsible for the individual's cognition and motricity, causing his psychomotor
deterioration.
Final Comments: In view of the number of complications that WS causes to patients, it is necessary
that this encephalopathy be further studied by the scientific community, as early
diagnosis and therapeutic intervention contribute in an attempt to reduce the number
of epileptic seizures and, consequently, preserve the neurodevelopment of the children,
keeping their motor, social and logical skills active.
