Related Experiment Videos
[Early myoclonic epileptic encephalopathy and non-ketotic hyperglycemia in the same family]
H Bruel1, J Boulloche, J P Chabrolle
1Service de Médecine Néonatale, Centre Hospitalier du Havre, France.
Insights
Familial non-ketotic hyperglycinemia can cause early myoclonic epileptic encephalopathy. This rare metabolic disorder presents unique diagnostic challenges in infants, as seen in this case study.
Area of Science:
- Neurology
- Metabolic disorders
- Genetics
Background:
- Neonatal myoclonic encephalopathy can stem from lesional or metabolic causes.
- Non-ketotic hyperglycinemia is a rare metabolic disorder that can lead to severe neurological symptoms in newborns.
Observation:
- A familial case of myoclonic epileptic encephalopathy in an infant is presented.
- The infant exhibited elevated urine serotonin and 5-hydroxyindoleacetic acid levels.
- Two deceased sisters presented with non-ketotic hyperglycinemia, corpus callosum agenesis, and clubfoot.
Findings:
- The study highlights a rare familial occurrence of non-ketotic hyperglycinemia.
- This condition was associated with early-onset myoclonic epileptic encephalopathy.
- Elevated serotonin metabolites may be a potential, though not definitive, biomarker.
Implications:
- This case underscores the importance of considering rare metabolic disorders in neonatal encephalopathy.
- Early diagnosis and genetic counseling are crucial for affected families.
- Further research into the neurochemical pathways of non-ketotic hyperglycinemia is warranted.
Background:
Neonatal myoclonic encephalopathy is of lesional or metabolic origin; non ketotic hyperglycinemia is one of its causes.
Case Report:
A girl, born from consanguineous parents, died from myoclonic epileptic encephalopathy at the age of 3 months. Screening for metabolic disease was negative, except for increased levels of urine serotonin and 5-hydroxyindol-acetic in cerebrospinal fluid, blood and urine. Two sisters died with non ketotic hyperglycinemia, corpus callosum agenesis and clubfoot.
Conclusion:
Familial occurrence of non ketotic hyperglycinemia and early myoclonic epileptic encephalopathy is uncommon.