Abstract
Aim. Our study aims at further defining the characteristics of epilepsy in Inherited Metabolic Disorders (IMDs). Methods. We reviewed the medical records of 345 patients with IMDs followed at the Metabolic Diseases Unit of our Department of Pediatrics and found the presence of an epileptic syndrome in 45 cases. An overview is given based on various criteria such as pathogenetic background, seizure type, age of onset, EEG, neuroimaging data, treatability. Seizure types were: focal (24 patients), generalized (13 patients), febrile (3 patients), and hypoglycemic (8 patients with glycogenoses). Some patients presented with more than one type of seizures. Age of onset was mainly during the first year of life (N.=19), between 2 and 6 years in 13 patients, and after the 6th year in 9 patients. Results. Available EEGs showed either focal (N.=21) or generalized epileptiform abnormalities (N.=11); multifocal paroxysms were evident in 3 patients while the remaining 3 patients had normal findings. Available neuroimages (CT/MRI) showed either normal findings (N.=6) or white matter abnormalities (N.=6), cerebral and/or cerebellar cortical atrophy (N.=11), hydrocephalus (N.=1), corpus callosum hypoplasia (N.=2), pontocerebellar hypoplasia (N.=1), gliosis in trigone area (N.=4). Most patients showed a favorable response to antiepileptic treatment (AEDs) with either complete control or reduced seizure frequency. Conclusion. IMDs are a relatively rare cause of epilepsy in children but their diagnosis is very important with respect to treatment, prognosis and genetic counselling.
| Original language | English |
|---|---|
| Pages (from-to) | 513-520 |
| Number of pages | 8 |
| Journal | Minerva Pediatrica |
| Volume | 64 |
| Issue number | 5 |
| Publication status | Published - Oct 2012 |
Fingerprint
Keywords
- Epilepsy
- Metabolic diseases
- Seizures
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
Cite this
Epilepsy in inherited metabolic disorders : A pediatric series. / Vitiello, G.; De Clemente, V.; Della Casa, R.; Romano, A.; Rosa, M.; Pascarella, A.; Riccitelli, M.; Parenti, G.; Del Giudice, E.
In: Minerva Pediatrica, Vol. 64, No. 5, 10.2012, p. 513-520.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Epilepsy in inherited metabolic disorders
T2 - A pediatric series
AU - Vitiello, G.
AU - De Clemente, V.
AU - Della Casa, R.
AU - Romano, A.
AU - Rosa, M.
AU - Pascarella, A.
AU - Riccitelli, M.
AU - Parenti, G.
AU - Del Giudice, E.
PY - 2012/10
Y1 - 2012/10
N2 - Aim. Our study aims at further defining the characteristics of epilepsy in Inherited Metabolic Disorders (IMDs). Methods. We reviewed the medical records of 345 patients with IMDs followed at the Metabolic Diseases Unit of our Department of Pediatrics and found the presence of an epileptic syndrome in 45 cases. An overview is given based on various criteria such as pathogenetic background, seizure type, age of onset, EEG, neuroimaging data, treatability. Seizure types were: focal (24 patients), generalized (13 patients), febrile (3 patients), and hypoglycemic (8 patients with glycogenoses). Some patients presented with more than one type of seizures. Age of onset was mainly during the first year of life (N.=19), between 2 and 6 years in 13 patients, and after the 6th year in 9 patients. Results. Available EEGs showed either focal (N.=21) or generalized epileptiform abnormalities (N.=11); multifocal paroxysms were evident in 3 patients while the remaining 3 patients had normal findings. Available neuroimages (CT/MRI) showed either normal findings (N.=6) or white matter abnormalities (N.=6), cerebral and/or cerebellar cortical atrophy (N.=11), hydrocephalus (N.=1), corpus callosum hypoplasia (N.=2), pontocerebellar hypoplasia (N.=1), gliosis in trigone area (N.=4). Most patients showed a favorable response to antiepileptic treatment (AEDs) with either complete control or reduced seizure frequency. Conclusion. IMDs are a relatively rare cause of epilepsy in children but their diagnosis is very important with respect to treatment, prognosis and genetic counselling.
AB - Aim. Our study aims at further defining the characteristics of epilepsy in Inherited Metabolic Disorders (IMDs). Methods. We reviewed the medical records of 345 patients with IMDs followed at the Metabolic Diseases Unit of our Department of Pediatrics and found the presence of an epileptic syndrome in 45 cases. An overview is given based on various criteria such as pathogenetic background, seizure type, age of onset, EEG, neuroimaging data, treatability. Seizure types were: focal (24 patients), generalized (13 patients), febrile (3 patients), and hypoglycemic (8 patients with glycogenoses). Some patients presented with more than one type of seizures. Age of onset was mainly during the first year of life (N.=19), between 2 and 6 years in 13 patients, and after the 6th year in 9 patients. Results. Available EEGs showed either focal (N.=21) or generalized epileptiform abnormalities (N.=11); multifocal paroxysms were evident in 3 patients while the remaining 3 patients had normal findings. Available neuroimages (CT/MRI) showed either normal findings (N.=6) or white matter abnormalities (N.=6), cerebral and/or cerebellar cortical atrophy (N.=11), hydrocephalus (N.=1), corpus callosum hypoplasia (N.=2), pontocerebellar hypoplasia (N.=1), gliosis in trigone area (N.=4). Most patients showed a favorable response to antiepileptic treatment (AEDs) with either complete control or reduced seizure frequency. Conclusion. IMDs are a relatively rare cause of epilepsy in children but their diagnosis is very important with respect to treatment, prognosis and genetic counselling.
KW - Epilepsy
KW - Metabolic diseases
KW - Seizures
UR - http://www.scopus.com/inward/record.url?scp=84871778671&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84871778671&partnerID=8YFLogxK
M3 - Article
VL - 64
SP - 513
EP - 520
JO - Minerva Pediatrica
JF - Minerva Pediatrica
SN - 0026-4946
IS - 5
ER -