Case report regarding West syndrome and its complications

*Correspondence: [e-mail].

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.

Publication History

Article published online:
12 May 2025