Dados do Trabalho

Name: SBNI 2024
Start: 2024-11-06
End: 2024-11-09
Location: CICB

Título

DOORS Syndrome: An Unusual Presentation with Movement Disorders

Apresentação do caso único

A teenage girl presented multiple times to the hospital during her childhood because of seizures and movement disorders. Her mother reports the patient was around 15 days of life when she first presented signs of myoclonic seizures. This symptom was migratory, involving different sites of her body. It was also resistant to multiple anti-seizure medications. Her movement disorders included generalized dystonia, chorea in her arms and stimming, the first mainly being triggered by water stimulus or exercise. She had no history of relevant perinatal events, but she had neuropsychomotor development delay and sometimes aggressive behavior, which would fit the autistic spectrum. Her parents were not consanguineous. She had a younger sister with the same features. Her physical exam showed oblique palpebral fissure, saddle-nose, ataxia and mild generalized hypotonia, with no clear signs of parkinsonism. Her MRI had mild cerebellar atrophy, and EEG comproved epileptiform activity. Eventually, her exome test revealed a recessive mutation in the TBC1D24 gene. After multiple adjustments, she was able to satisfactorily control her symptoms with oxcarbazepine, topiramate, clobazam, biperiden, clonidine, and fluoxetine.

Discussão

Mutations in the TBC1D24 gene have been associated with multiple phenotypes, involving DOORS syndrome and other epileptic disorders, which can range from myoclonic epilepsy restricted to childhood to early-onset drug-resistant epileptic encephalopathy. Correlations between mutation site and phenotype are still not completely clear. Movement disorders are not commonly associated with these mutations, although paroxysmal-exercise-induced dystonia has already been described. Our patient has received antipsychotics for a long period during her childhood, which can impair the understanding whether the movements disorders could be related to this mutation or not.

Comentários finais

Mutations in the TBC1D24 gene may present with diverse phenotypes and might be related to movement disorders, especially dystonia. However, further studies are needed for our better understanding of this condition.