TY - JOUR
T1 - Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?
AU - de Rooy, R. L. P.
AU - Halbertsma, F. J.
AU - Struijs, E. A.
AU - van Spronsen, F. J.
AU - Lunsing, R. J.
AU - Schippers, H. M.
AU - van Hasselt, P. M.
AU - Plecko, B.
AU - Wohlrab, G.
AU - Whalen, S.
AU - Benoist, J. F.
AU - Valence, S.
AU - Mills, P. B.
AU - Bok, L. A.
PY - 2018
Y1 - 2018
N2 - Aim: In pyridoxine dependent epilepsy (PDE), patients usually present with neonatal seizures. A small subgroup is characterized by late-onset beyond 2 months of age. We aim to analyze the observation of relatively good cognitive outcome in this subgroup of late-onset PDE patients. Methods: We retrospectively analyzed data from four metabolically and genetically confirmed late-onset patients with PDE due to antiquitin (ALDH7A1) deficiency. Data were analyzed regarding ALDH7A1 mutations, alpha-Aminoadipic semialdehyde (α-AASA) and pipecolic acid (PA) levels, medication during pregnancy, delivery, treatment delay, amount of seizures, pyridoxine dose, adjuvant therapy and findings on brain MRI. Results: Results showed that three patients had relatively good outcome (IQ 80–97), while one patient did not undergo formal testing and was considered mildly delayed. We were unable to find a clear association between the above-mentioned variables and cognitive outcome, although a less severe genotype may be present in three patients, and maternal medication could be accountable for better outcome in two patients. Interpretation: We suggest that favorable outcome in late onset PDE might be explained by a combination of factors. A yet unknown protective factor, different genetic variations, functional variation and secondarily variation in treatment regimens and absence of neonatal seizure induced brain damage.
AB - Aim: In pyridoxine dependent epilepsy (PDE), patients usually present with neonatal seizures. A small subgroup is characterized by late-onset beyond 2 months of age. We aim to analyze the observation of relatively good cognitive outcome in this subgroup of late-onset PDE patients. Methods: We retrospectively analyzed data from four metabolically and genetically confirmed late-onset patients with PDE due to antiquitin (ALDH7A1) deficiency. Data were analyzed regarding ALDH7A1 mutations, alpha-Aminoadipic semialdehyde (α-AASA) and pipecolic acid (PA) levels, medication during pregnancy, delivery, treatment delay, amount of seizures, pyridoxine dose, adjuvant therapy and findings on brain MRI. Results: Results showed that three patients had relatively good outcome (IQ 80–97), while one patient did not undergo formal testing and was considered mildly delayed. We were unable to find a clear association between the above-mentioned variables and cognitive outcome, although a less severe genotype may be present in three patients, and maternal medication could be accountable for better outcome in two patients. Interpretation: We suggest that favorable outcome in late onset PDE might be explained by a combination of factors. A yet unknown protective factor, different genetic variations, functional variation and secondarily variation in treatment regimens and absence of neonatal seizure induced brain damage.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85045300273&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/29661537
U2 - 10.1016/j.ejpn.2018.03.009
DO - 10.1016/j.ejpn.2018.03.009
M3 - Article
C2 - 29661537
VL - 22
SP - 662
EP - 666
JO - European Journal of Paediatric Neurology
JF - European Journal of Paediatric Neurology
SN - 1090-3798
IS - 4
ER -