Dados do Trabalho

Título

Cannabidiol treatment in a patient with Aicardi Syndrome and Infantile Spasms: A case report

Apresentação do caso

Case presentation:
A 6-year-old female child diagnosed with Aicardi syndrome, starts with infantile spams at 3 months of age. She was treated until two years of age with several anti-seizure drugs without success (vigabatrin, prednisone, phenobarbital, levetiracetam, clobazam and topiramate). At that time, the patient was tracheostomized and gastrostomized with frequent hospitalizations due to status epilepticus. On neurological exam, she presented hemiparesis and global neuropsychomotor developmental delay. Ophthalmologic examination showed chorioretinal lacunae. At two years and one month, cannabidiol was started, and levetiracetam was maintained, with marked improvement in seizure control. Since then, the child has had reasonable control of the spasms and only presented occasional focal seizures. At the age of 6, the child still had hemiparesis, inability to walk, spoke few isolated words with good understanding, Magnetic resonance imaging (MRI) demonstrated agenesis of the corpus callosum, colpocephaly and pachygyria. An electroencephalogram (EEG) was performed at nine months of age with atypical hypsarrhythmia. A video EEG at three years and one month, after using cannabidiol, showed slowing of the tracing on the right, with asymmetric base activity.

Discussão

Discussion: Aicardi syndrome is a rare severe developmental disorder of unknown etiology. It is characterized by a triad of agenesis of the corpus callosum, central chorioretinal lacunae, and infantile spasms. All children belong to the female sex. A gene for Aicardi syndrome has not been identified, but several observations support a hypothesis that is caused by de novo pathogenic variants in a gene on the X chromosome that is subject to X- chromosome inactivation. Aicardi syndrome is associated with migration disorders such as polymicrogyria and periventricular heterotopia. We first saw the child at two years and one month when cannabidiol was introduced in treatment regimen. Before starting cannabidiol, the patient had cervical hypotonia, a nasoenteric tube to feed, a tracheostomy and frequent hospitalizations. After use, she has sporadic focal motor seizures, good cervical control, and no need for tracheostomy and oral feeding.

Comentários finais

Final comments: The evidence is increasing that cannabidiol is an effective treatment option for childhood onset severe treatment-resistant epilepsies In our case report, the use of cannabidiol was essential for the control of seizures and reasonable cognitive improvement.