Dados do Trabalho

Título

“BETTER LATE THAN NEVER”: A CASE REPORT OF EPILEPTIC ENCEPHALOPATHY SECONDARY TO PYRIDOXINE DEFICIENCY DIAGNOSED IN A TEENAGER.

Apresentação do caso

LFAC, male, 14 years old, son of a non-consanguineous couple, presents epileptic encephalopathy secondary to pyridoxine deficiency diagnosed only in adolescence. He had his first seizure at five days of life, which evolved into drug-resistant epilepsy, mild intellectual disability, and mild paresis in the lower limbs. Between 7 to 13 years old, he required polytherapy with Topiramate, Clobazam, Valproic Acid and Carbamazepine, with reasonable control of seizures. In May 2020, he had a Covid infection, and since then, he has developed intermittent diarrhoea and weight loss. Four months later, he presented vomiting, fever and epileptic seizures associated with omission of medication intake and lowered level of consciousness requiring hospitalization at the intensive care unit of our service. An extensive workup was carried out to investigate infectious, autoimmune, genetic and structural causes, as well as empirical treatment with Acyclovir and Immunoglobulin, due to the severity of the condition. The patient was screened by the genetic panel of the diagnostic support program for patients with Neurodevelopmental Disorders, and Movement Disorders with early childhood onset and two heterozygous variants in the ALDH7A1 gene associated with pyridoxine-dependent epilepsy were identified. After treatment with Pyridoxine supplementation, the patient showed neurological improvement and good seizure control. The patient still uses Topiramate, Clobazam, Carbamazepine, Levetiracetam, and Pyridoxine. He was discharged from the hospital with a proposal to reduce polytherapy in the follow-up gradually.

Discussão

DISCUSSION:
Cases of neonatal refractory epilepsy may be associated with pyridoxine deficiency and are usually diagnosed after clinical improvement with empirical administration of the vitamin. Our patient, unlike usual, had a relative control of seizures in school age, even without the administration of pyridoxine, despite having an intellectual disability and only presented a significant decompensation of his epilepsy after an infectious condition in adolescence.

Comentários finais

FINAL COMMENTS:
The diagnosis, although late, was essential for adequate treatment and recovery of neurological functions. Therefore, aetiology research of genetic epilepsy, especially treatable ones, is fundamental, regardless of age, because specific treatment is responsible for reasonable seizure control, better neuropsychomotor development and better quality of life of the affected individual