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[Non-ketotic hyperglycinemia. Transient neonatal form]
J Vaquerizo1, P Rincón, J Sánchez Alarcón
1Departamento de Pediatria, Hospital Universitario Regional, Infanta Cristina, Badajoz.
Revista De Neurologia
|March 1, 1996
Summary
Transient nonketotic hyperglycinemia can cause neonatal epilepsy. This case showed good neurological recovery and normalized brain imaging by one year of age, suggesting a treatable cause of early-onset seizures.
Area of Science:
- Biochemistry
- Neurology
- Pediatrics
Background:
- Neonatal epilepsy presents a diagnostic challenge.
- Nonketotic hyperglycinemia (NKH) is a rare metabolic disorder.
- Transient forms of NKH are less understood.
Observation:
- A patient presented with neonatal epilepsy without burst-suppression patterns.
- The epilepsy was linked to a transient form of nonketotic hyperglycinemia.
- Initial neuroimaging revealed delayed myelination and frontal white matter microcysts.
Findings:
- Biochemical markers normalized by two weeks of age.
- The patient exhibited favorable clinical evolution and neurological normality at one year.
- Transitory neuroradiological abnormalities resolved completely.
Implications:
- This case highlights a treatable cause of neonatal seizures.
- Early diagnosis and management of NKH can lead to excellent outcomes.
- Further research into glycine cleavage system immaturity is warranted.