A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutation

Abstract

Abstract Background Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disease, usually associated with neonatal seizures, about 75% of the patients suffered from intellectual or developmental delay (IDD). Antiepileptic drugs are often difficult to control seizures or incomplete control, but pyridoxine administration can significantly improve seizure control and neurodevelopmental outcomes. Clinical diagnosis of PDE is challenging because its neurological symptoms may not be the primary clinical symptom. Some children may have other symptoms before the onset of PDE, such as respiratory distress, hypothermia, hypoglycemia, shock and acidosis, allergy, bloating, vomiting, and irritability. It was found that PDE is mainly caused by a mutation in ALDH7A1. Case presentation This paper reports the clinical diagnosis and treatment of a case of pyridoxine-dependent epilepsy (PDE) and literature analysis. The onset of the disease was 2 hours after birth, with generalized tonic-clonic seizures and continuous convulsions. Various antiepileptic drugs were difficult to control. Due to an unclear early diagnosis and obvious lactic acid increase, mild hypothermia was used for 72 hours at the early stage. The effect of vitamin B6 treatment was not significant in the initial stage. Other diseases were excluded through rigorous clinical diagnosis and treatment, neuroelectrophysiology and neuroimaging examinations, and hematuria tandem mass spectrometry. The mutation of the ALDH7A1 gene was found through whole exome sequencing, and PDE was finally diagnosed. The control effect was good with vitamin B6 alone, and the growth and development were normal until the age of 3 months. Conclusions We report a case of PDE in a Chinese newborn due to ALDH7A1 gene mutation. The c.531del (p.Leu178 *) mutation may be a new pathogenic mutation. Through our case report, it is suggested that the underlying etiology should also be suspected when the cause of various systemic symptoms is uncertain and the response to conventional treatment is insufficient. All patients with unexplained epilepsy who have conditions should receive PDE-related biochemical indicators and genetic testing.