TY - JOUR
T1 - Early-onset cobalamin C/D deficiency
T2 - Epilepsy and electroencephalographic features
AU - Biancheri, Roberta
AU - Cerone, Roberto
AU - Rossi, Andrea
AU - Schiaffino, Maria Cristina
AU - Caruso, Ubaldo
AU - Minniti, Giuseppe
AU - Perrone, Maria Viviana
AU - Tortori-Donati, Paolo
AU - Veneselli, Edvige
PY - 2002
Y1 - 2002
N2 - Purpose: To describe epilepsy and EEG findings in the early-onset cobalamin (Cbl) C/D deficiency, an inborn error of intracellular Cbl metabolism characterized by high plasma levels of methylmalonic acid, homocystine, and homocysteine. Methods: Type and frequency of seizures were studied in 10 patients (six boys and four girls) who underwent waking and sleep EEG. Results: Half of patients had seizures in the first year of life (either concurrent with the other symptoms of disease or some months after the onset of disease); seizures occurred after 2 years in the other half of patients. Convulsive status epilepticus was the initial manifestation in three patients. During the follow-up, nine patients had seizures (mainly partial) despite specific treatment for Cbl C/D deficiency and antiepileptic drugs. Focal or multifocal epileptiform abnormalities during waking EEG that increased during sleep EEG were recorded in the majority of patients. Plasma levels of homocystine and homocysteine were constantly higher than normal, despite therapy institution. Conclusions: Epilepsy and EEG abnormalities are prominent features in the early-onset type of combined methylmalonic aciduria and homocystinuria due to Cbl C/D deficiency, possibly related to the pathologically and persistently high levels of homocysteine, experimentally proven to induce seizures. Plasma amino acids evaluation and urinary acid organic analysis should be performed in any infant showing seizures associated with feeding difficulties and failure to thrive, at onset during the first year of life, as well as in any child with convulsive status epilepticus and a history of psychomotor developmental delay of unknown origin.
AB - Purpose: To describe epilepsy and EEG findings in the early-onset cobalamin (Cbl) C/D deficiency, an inborn error of intracellular Cbl metabolism characterized by high plasma levels of methylmalonic acid, homocystine, and homocysteine. Methods: Type and frequency of seizures were studied in 10 patients (six boys and four girls) who underwent waking and sleep EEG. Results: Half of patients had seizures in the first year of life (either concurrent with the other symptoms of disease or some months after the onset of disease); seizures occurred after 2 years in the other half of patients. Convulsive status epilepticus was the initial manifestation in three patients. During the follow-up, nine patients had seizures (mainly partial) despite specific treatment for Cbl C/D deficiency and antiepileptic drugs. Focal or multifocal epileptiform abnormalities during waking EEG that increased during sleep EEG were recorded in the majority of patients. Plasma levels of homocystine and homocysteine were constantly higher than normal, despite therapy institution. Conclusions: Epilepsy and EEG abnormalities are prominent features in the early-onset type of combined methylmalonic aciduria and homocystinuria due to Cbl C/D deficiency, possibly related to the pathologically and persistently high levels of homocysteine, experimentally proven to induce seizures. Plasma amino acids evaluation and urinary acid organic analysis should be performed in any infant showing seizures associated with feeding difficulties and failure to thrive, at onset during the first year of life, as well as in any child with convulsive status epilepticus and a history of psychomotor developmental delay of unknown origin.
KW - Cobalamin C/D deficiency
KW - EEG
KW - Epilepsy
KW - Homocystinuria
KW - Methylmalonic aciduria
UR - http://www.scopus.com/inward/record.url?scp=0036280188&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0036280188&partnerID=8YFLogxK
U2 - 10.1046/j.1528-1157.2002.24001.x
DO - 10.1046/j.1528-1157.2002.24001.x
M3 - Article
C2 - 12060021
AN - SCOPUS:0036280188
VL - 43
SP - 616
EP - 622
JO - Epilepsia
JF - Epilepsia
SN - 0013-9580
IS - 6
ER -