Dados do Trabalho

Título

DiGeorge syndrome, a rare disorder, followed by uncommon structural epilepsy: a case report.

Apresentação do caso

A 2 years and 11 month old boy, who was born with DiGeorge syndrome (deletions in chromosome 22q11.2) and Tetralogy of Fallot associated with a valvar pulmonary stenosis, presented to us with a history of tonic-clonic seizures, a upper motor neuron syndrome and impaired communication and social skills. In the past, our patient underwent an open-heart surgery and, at the immediate postoperative period, he had a cardiac arrest that lasted 28 minutes, followed by another episode lasting 4 minutes. Still in the same hospitalization, he presented with seizures that started as focal tonic-clonic and evolved to bilateral tonic-clonic seizures. Later on, he performed a head tomography and MRI imaging that showed ventricular dilatation, an arachnoid cyst and a subdural fluid collection.

Discussão

There are 5 possible etiologies for epilepsy syndromes, according to ILAE (International League Against Epilepsy), many are due to congenital factors and others are acquired throughout life. In both cases, we have structural etiologies being present, with acquired ones in the second place of incidence. Within this spectrum, lesions with mass effect, like subdural fluid collections, can cause convulsive effects, as well as arachnoid cysts, but with a lower prevalence. There have already been other reports of the association of these 2 lesions in children, some of them described patients that evolved with seizures. One of the underlying diseases of the patient, DiGeorge syndrome, can also cause metabolic seizures in its carriers.

Comentários finais

Our patient, with a rare syndrome, developed an association of 2 imaging findings of cerebellar tumors, which count as another rare finding when taken together. The report aims to show an uncommon genetic disease, and its clinical features, associated with a structural epilepsy.

Referências (se houver)

Palavras Chave

Epilepsy; DiGeorge syndrome; Genetic syndrome

Fonte de Fomento (se houver)

Declaração de conflito de interesses de TODOS os autores

Não há conflitos de interesse

Área

Neurogenética