Dados do Trabalho

Título

Mutation in the ATP1A3 gene causing seizures and episodes of hemiplegia

Apresentação do caso

CASE PRESENTATION: A one-year-old boy is referred to our service due to uncontrolled epileptic seizures that started on his first day of life. It was described as an ocular version and horizontal nystagmus. He was initially treated with phenobarbital. However, at ten months of life, the patient relapsed with seizures, described as hemiclonic jerks followed by left weakness. Phenobarbital was changed to Oxcarbazepine with no response. At the physical exam, he had developmental delay and hypotonia. The initial neurological workup included an electroencephalogram that showed focal epileptogenesis and normal magnetic resonance imaging (MRI). A genetic investigation of movement disorder showed a heterozygous mutation in the ATP1A3 gene. Considering the clinical examination and complementary exams, the patient was diagnosed with alternating hemiplegia of childhood. The treatment was changed to Flunarizine and Topiramate, reducing the frequency and severity of the seizures and hemiplegia.

Discussão

DISCUSSION: Alternating hemiplegia of childhood is a rare and severe neurological disorder. It is characterized by transient episodes of hemiplegia/hemiparesis, quadriparesis, movement disorders, seizures, and autonomic dysfunction in isolation or in combination lasting for minutes to days. Developmental delay is seen in most of the patients and seizures are present in 50% of the patients. Krägeloh and Aicardi clarified clinical features with further distillation in later publications and the formation of generally accepted
diagnostic criteria. However, only in 2012 molecular abnormality of ATP1A3 had been discovered as the primary etiology of this rare disease.

Comentários finais

FINAL COMMENTS: Although alternating hemiplegia of childhood is a rare disorder, it can be diagnosed based on an accurate history, clinical examination and complementary exams. Disease-modifying therapy did not exist until now, and several agents have been tried with various success rates to lessen symptoms. However, with the rapid advancement in understanding molecular pathogenesis, the treatment paradigm of alternating hemiplegia of childhood may significantly alter over the next decade.