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Neonatal Refractory Seizures and Hyperammonemia in a Neonate With ALDH7A1 Deficiency
Maryam Saeedi1, Kayvan Mirnia1, Sahar Sedighzadeh2
1Children's Medical Center, Pediatrics Center of Excellence Tehran University of Medical Sciences Tehran Iran.
Clinical Case Reports
|September 8, 2025
Summary
Pyridoxine-dependent epilepsy (PDE) is a rare genetic disorder causing severe seizures. Early diagnosis and pyridoxine treatment are crucial, as demonstrated by a fatal case highlighting the need for prompt intervention.
Area of Science:
- Neurology
- Metabolic Disorders
- Genetics
Background:
- Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive neurometabolic disorder.
- Characterized by intractable seizures that respond to pyridoxine (vitamin B6).
Purpose of the Study:
- To present a case of neonatal PDE.
- To emphasize the importance of early diagnosis and treatment.
Main Methods:
- Case report of an 11-day-old neonate with refractory seizures.
- Clinical presentation included hepatomegaly, metabolic acidosis, hyperammonemia, and elevated lactate.
- Diagnosis confirmed by genetic analysis revealing a pathogenic variant in the ALDH7A1 gene.
Main Results:
- The infant experienced persistent seizures and progressive metabolic disturbances despite various treatments.
- Genetic analysis confirmed PDE due to a homozygous ALDH7A1 pathogenic variant.
- The patient ultimately suffered cardiorespiratory arrest and died.
Conclusions:
- Early recognition of PDE is critical, particularly in consanguineous families.
- Prompt administration of pyridoxine is essential to prevent fatal outcomes in PDE patients.
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