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Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features
Roberta Biancheri1, Roberto Cerone, Andrea Rossi
1III Division of Paediatrics, G. Gaslini Institute, Genova, Italy. roberta.biancheri@tin.it
Epilepsia
|June 13, 2002
Summary
Early-onset cobalamin C/D deficiency causes prominent epilepsy and EEG abnormalities, likely due to persistently high homocysteine levels. Diagnosis requires plasma amino acid and urinary organic acid analysis in infants with seizures and failure to thrive.
Area of Science:
- Neurology
- Metabolic Disorders
- Genetics
Background:
- Cobalamin (Cbl) C/D deficiency is an inherited metabolic disorder affecting intracellular Cbl processing.
- It leads to elevated plasma methylmalonic acid, homocystine, and homocysteine.
- Early-onset forms present with significant neurological complications.
Purpose of the Study:
- To characterize epilepsy and electroencephalogram (EEG) findings in early-onset Cbl C/D deficiency.
- To investigate the relationship between Cbl C/D deficiency and neurological manifestations.
Main Methods:
- Studied seizure types and frequencies in 10 pediatric patients with Cbl C/D deficiency.
- Performed waking and sleep EEG recordings.
- Monitored plasma amino acid levels and response to treatment.
Main Results:
- Half of patients experienced seizures within the first year of life; the other half after two years.
- Convulsive status epilepticus was the initial symptom in three patients.
- Nine patients had persistent seizures (mainly partial) despite treatment, with EEG showing focal or multifocal abnormalities that increased during sleep. Persistently elevated homocysteine levels were observed.
Conclusions:
- Epilepsy and EEG abnormalities are key features of early-onset Cbl C/D deficiency, potentially linked to high homocysteine levels.
- Prompt diagnosis via plasma amino acid and urinary organic acid analysis is crucial for infants with seizures, feeding difficulties, failure to thrive, or unexplained developmental delay.