Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort
| Autor: | Falsaperla, R, Vari, Ms, Toldo, I, Murgia, A, Sartori, S, Vecchi, M, Suppiej, A, Burlina, A, Mastrangelo, M, Leuzzi, V, Marchiani, V, De Liso, P, Capovilla, G, Striano, P, Vitaliti, G, Italian Society of Pediatric Neurology (SINP: Società Italiana di Neurologia, Pediatrica). |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
Male
medicine.medical_specialty Pediatrics Neurology Adolescent medicine.medical_treatment Cohort Dependent epilepsies Diagnosis Observational study Pediatric age Pyridoxine Treatment Anticonvulsants Child Child Preschool Cohort Studies Epilepsy Female Humans Infant Retrospective Studies Seizures Vitamin B Complex Biochemistry NO 03 medical and health sciences Cellular and Molecular Neuroscience 0302 clinical medicine Pathognomonic 030225 pediatrics Medicine Preschool Adverse effect business.industry Retrospective cohort study Anticonvulsant pyridoxine dependent epilepsies diagnosis treatment pediatric age observational study cohort Neurology (clinical) business 030217 neurology & neurosurgery medicine.drug |
| Zdroj: | Metabolic brain disease. 33(1) |
| ISSN: | 1573-7365 |
| Popis: | The aim of our study was to describe the clinical, electroencephalogram, molecular findings and the diagnostic and therapeutic flow-chart of children with pyridoxine-dependent epilepsies (PDEs). We performed a retrospective observational study on children with PDEs, diagnosed and followed-up in Italian Pediatric Departments. In each centre, the authors collected data from a cohort of children admitted for intractable seizures, responsive to pyridoxine administration and resistant to other anticonvulsant therapies. Data were retrospectively analysed from January 2016 to January 2017. Sixteen patients (13 males, and 3 females) were included. We found that 93.75% of patients underwent conventional anticonvulsant therapy before starting pyridoxine administration and 62.5% had ex-juvantibus diagnosis, as specific serum diagnostic tests had been performed in only 37.5% of patients by alpha-AASA and pipecolic acid blood and urine dosage. The most common type of seizure was generalized tonic-clonic in 7 patients and the most common EEG pattern was characterized by a "burst suppression" pattern. Before pyridoxine administration, other anticonvulsant drugs were used in 93.75% of patients, with consequent onset of drug-resistance. Phenobarbital was the most frequently used drug as first-line treatment. The importance of our study relies on the need of a deeper knowledge of PDEs in terms of early diagnosis, avoiding incorrect treatment and related adverse events, clinical and EEG pathognomonic features, and genetic aspects of the disease. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink