Condiciones comórbidas del síndrome de West y autismo: Reporte de 5 casos.
West syndrome (WS) is an epileptic encephalopathy character-ized by infantile spasms (IS), psychomotor delay or regression, and a typical EEG pattern called Hypsarrhythmia. IS are tonic seizures of sudden onset, in flexion, extension, or mixed, of short duration, and in series, which usually occur in the first year of life. It is estimated that at least 20 percent of children with WS develop autism. Both WS and autism spectrum disorders (ASD) share genetic, structural, and metabolic alterations, as well as immune dysfunction, which in-teract with environmental factors, suggesting potential common mechanisms linking both disorders. We performed a retrospective and descriptive analysis of clinical records of five children between the ages of three and seven years, all presenting with IS and clinical signs of ASD. Comprehensive neurological and psychological assessments were conducted, along with EEGs. The average age was 4.4 years, with a predominance of males. The onset of symptoms oc-curred between four and seven months, and signs of autism were identified be-tween one and 2.5 years. All patients exhibited hypsarrhythmia on their EEGs. Three of the five children had a diagnosis of neurocutaneous syndrome. All were treated with ACTHH or nitrazepam, with a satisfactory response. We highlight the relationship with neurocutaneous syndromes, particularly tuberous sclero-sis, where cellular, molecular, and pathophysiological mechanisms may impact neuronal connectivity, thus influencing the epileptogenic process and develop-mental delay. Early identification of these clinical signs by the pediatrician will allow for timely interventions.
Authors
- Nelly Petit de Molero (ORCID: https://orcid.org/0000-0003-2786-0329)
- Joaquín Peña (ORCID: https://orcid.org/0009-0006-9232-0600)
- Raíza María Portillo-Pérez (ORCID: https://orcid.org/0009-0001-9018-9323)
- Enoe Emperatriz Medrano-León (ORCID: https://orcid.org/0009-0003-8914-8107)
- Gustavo Morales-Rincón
Institutions
- Universidad del Zulia (VE)
- Hospital Universitario de Maracaibo (VE)
Publication Details
- Journal
- Investigación Clínica
- Published
- 2025-09-01
- DOI
- https://doi.org/10.54817/ic.v66n3a08
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00