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Título

West Syndrome associated with Autosomal Dominant Intellectual Development Disorder 13: Case Report

RESUMO

Case presentation: Infant, 8 months and 13 days old, at 5 months of age, he started to have partial myoclonic seizures that presented with the upper limbs in repetitive extension movements. Initially, the seizures lasted for seconds and had a frequency of 2 to 3 episodes per day. An electroencephalogram (EEG) was performed, which showed a pattern of hypsarrhythmia, and West Syndrome (WS) was diagnosed due to the EEG pattern, spasms and developmental delay. His first hospitalization was at 7 months, when he had a crisis that lasted more than 5 minutes. During hospitalization, he performed several complementary exams to investigate the etiology of the condition, EEG, magnetic resonance and exome. This confirmed Autosomal Dominant Intellectual Development Disorder 13, which presents with neuropsychomotor developmental delay, epilepsy, cortical changes in CNS migration and hypotonia. She currently performs therapies with valproic acid, gabapentin, levetiracetam, nitrazepam and ACTH for the treatment of epilepsy and WS. Discussion: The WS is the most common encephalopathy in the first two years of life, consisting of: epileptic spasms, hypsarrhythmia on encephalography, and delay or arrest in neuropsychomotor development. In this aspect, the diagnosis of WS is made by combining clinical characteristics and electroencephalographic (EEG) findings. The most prevalent characteristic EEG finding is a hypsarrhythmic pattern. In addition to the EEG, imaging tests and genetic tests are necessary for the etiology of the syndrome. The patient's exome report indicates pathogenic variants in the DYNC1H1 gene, which would correlate with the presented phenotype of Autosomal Dominant Intellectual Developmental Disorder 13, clinically characterized by intellectual disability, behavioral changes, epilepsy, central nervous system abnormalities and variable dysmorphisms. Final Comments: The SW constitutes 2% of all childhood epilepsies, being, therefore, a rare syndrome and despite the clinical signs, it is essential to perform imaging tests for diagnosis. It is a pathology with a poor prognosis, as it has no cure, evolving largely into difficult-to-control epilepsy associated with delayed neuropsychomotor development. Therefore, early diagnosis is necessary to start pharmacological treatment and strict follow-up with a multidisciplinary team, including speech therapy, physical therapy and neurologist to control the crises.

Palavras Chave

West Syndrome; epilepsy;