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Diagnosis of pyridoxine-dependent seizures in a nineteen-year-old patient.

Abstract Although a diagnosis of pyridoxine-dependent seizures may commonly be delayed, this case involves an extremely late diagnosis with associated morbidity. Our patient received pyridoxine during the neonatal period, in conjunction with other antiepileptic drugs that masked its effect. This patient also underwent ventriculoperitoneal shunting, which complicated the diagnosis. Pyridoxine was continued with other antiepileptic drugs, without definite recognition of its therapeutic relationship. Pyridoxine-dependent seizures were finally recognized at age 19 years when the patient manifested refractory status epilepticus, several days after wisdom tooth removal (and discontinuing oral medications including pyridoxine and phenobarbital before surgery). The diagnosis was only established via genetic testing. Our patient highlights the difficulty in diagnosing this rare seizure type and its potential importance in refractory epilepsy.
PMID
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Authors

Mayor MeshTerms
Keywords
Journal Title pediatric neurology
Publication Year Start
%A Russell, Kate E.; Mulligan, Sarah R.; Mallory, Leah A.
%T Diagnosis of pyridoxine-dependent seizures in a nineteen-year-old patient.
%J Pediatric neurology, vol. 47, no. 2, pp. 141-143
%D 08/2012
%V 47
%N 2
%M eng
%B Although a diagnosis of pyridoxine-dependent seizures may commonly be delayed, this case involves an extremely late diagnosis with associated morbidity. Our patient received pyridoxine during the neonatal period, in conjunction with other antiepileptic drugs that masked its effect. This patient also underwent ventriculoperitoneal shunting, which complicated the diagnosis. Pyridoxine was continued with other antiepileptic drugs, without definite recognition of its therapeutic relationship. Pyridoxine-dependent seizures were finally recognized at age 19 years when the patient manifested refractory status epilepticus, several days after wisdom tooth removal (and discontinuing oral medications including pyridoxine and phenobarbital before surgery). The diagnosis was only established via genetic testing. Our patient highlights the difficulty in diagnosing this rare seizure type and its potential importance in refractory epilepsy.
%K Epilepsy, Female, Humans, Young Adult
%P 141
%L 143
%Y 10.1016/j.pediatrneurol.2012.04.018
%W PHY
%G AUTHOR
%R 2012.......47..141R

@Article{Russell2012,
author="Russell, Kate E.
and Mulligan, Sarah R.
and Mallory, Leah A.",
title="Diagnosis of pyridoxine-dependent seizures in a nineteen-year-old patient.",
journal="Pediatric neurology",
year="2012",
month="Aug",
volume="47",
number="2",
pages="141--143",
keywords="Epilepsy",
keywords="Female",
keywords="Humans",
keywords="Young Adult",
abstract="Although a diagnosis of pyridoxine-dependent seizures may commonly be delayed, this case involves an extremely late diagnosis with associated morbidity. Our patient received pyridoxine during the neonatal period, in conjunction with other antiepileptic drugs that masked its effect. This patient also underwent ventriculoperitoneal shunting, which complicated the diagnosis. Pyridoxine was continued with other antiepileptic drugs, without definite recognition of its therapeutic relationship. Pyridoxine-dependent seizures were finally recognized at age 19 years when the patient manifested refractory status epilepticus, several days after wisdom tooth removal (and discontinuing oral medications including pyridoxine and phenobarbital before surgery). The diagnosis was only established via genetic testing. Our patient highlights the difficulty in diagnosing this rare seizure type and its potential importance in refractory epilepsy.",
issn="1873-5150",
doi="10.1016/j.pediatrneurol.2012.04.018",
url="http://www.ncbi.nlm.nih.gov/pubmed/22759694",
language="eng"
}

%0 Journal Article
%T Diagnosis of pyridoxine-dependent seizures in a nineteen-year-old patient.
%A Russell, Kate E.
%A Mulligan, Sarah R.
%A Mallory, Leah A.
%J Pediatric neurology
%D 2012
%8 Aug
%V 47
%N 2
%@ 1873-5150
%G eng
%F Russell2012
%X Although a diagnosis of pyridoxine-dependent seizures may commonly be delayed, this case involves an extremely late diagnosis with associated morbidity. Our patient received pyridoxine during the neonatal period, in conjunction with other antiepileptic drugs that masked its effect. This patient also underwent ventriculoperitoneal shunting, which complicated the diagnosis. Pyridoxine was continued with other antiepileptic drugs, without definite recognition of its therapeutic relationship. Pyridoxine-dependent seizures were finally recognized at age 19 years when the patient manifested refractory status epilepticus, several days after wisdom tooth removal (and discontinuing oral medications including pyridoxine and phenobarbital before surgery). The diagnosis was only established via genetic testing. Our patient highlights the difficulty in diagnosing this rare seizure type and its potential importance in refractory epilepsy.
%K Epilepsy
%K Female
%K Humans
%K Young Adult
%U http://dx.doi.org/10.1016/j.pediatrneurol.2012.04.018
%U http://www.ncbi.nlm.nih.gov/pubmed/22759694
%P 141-143

PT Journal
AU Russell, KE
   Mulligan, SR
   Mallory, LA
TI Diagnosis of pyridoxine-dependent seizures in a nineteen-year-old patient.
SO Pediatric neurology
JI Pediatr. Neurol.
PD Aug
PY 2012
BP 141
EP 143
VL 47
IS 2
DI 10.1016/j.pediatrneurol.2012.04.018
LA eng
DE Epilepsy; Female; Humans; Young Adult
AB Although a diagnosis of pyridoxine-dependent seizures may commonly be delayed, this case involves an extremely late diagnosis with associated morbidity. Our patient received pyridoxine during the neonatal period, in conjunction with other antiepileptic drugs that masked its effect. This patient also underwent ventriculoperitoneal shunting, which complicated the diagnosis. Pyridoxine was continued with other antiepileptic drugs, without definite recognition of its therapeutic relationship. Pyridoxine-dependent seizures were finally recognized at age 19 years when the patient manifested refractory status epilepticus, several days after wisdom tooth removal (and discontinuing oral medications including pyridoxine and phenobarbital before surgery). The diagnosis was only established via genetic testing. Our patient highlights the difficulty in diagnosing this rare seizure type and its potential importance in refractory epilepsy.
ER

PMID- 22759694
OWN - NLM
STAT- MEDLINE
DA  - 20120704
DCOM- 20130516
IS  - 1873-5150 (Electronic)
IS  - 0887-8994 (Linking)
VI  - 47
IP  - 2
DP  - 2012 Aug
TI  - Diagnosis of pyridoxine-dependent seizures in a nineteen-year-old patient.
PG  - 141-3
LID - 10.1016/j.pediatrneurol.2012.04.018 [doi]
AB  - Although a diagnosis of pyridoxine-dependent seizures may commonly be delayed,
      this case involves an extremely late diagnosis with associated morbidity. Our
      patient received pyridoxine during the neonatal period, in conjunction with other
      antiepileptic drugs that masked its effect. This patient also underwent
      ventriculoperitoneal shunting, which complicated the diagnosis. Pyridoxine was
      continued with other antiepileptic drugs, without definite recognition of its
      therapeutic relationship. Pyridoxine-dependent seizures were finally recognized
      at age 19 years when the patient manifested refractory status epilepticus,
      several days after wisdom tooth removal (and discontinuing oral medications
      including pyridoxine and phenobarbital before surgery). The diagnosis was only
      established via genetic testing. Our patient highlights the difficulty in
      diagnosing this rare seizure type and its potential importance in refractory
      epilepsy.
CI  - Copyright (c) 2012 Elsevier Inc. All rights reserved.
FAU - Russell, Kate E
AU  - Russell KE
AD  - Department of Pediatrics, Dartmouth Medical School, Hanover, New Hampshire, USA.
FAU - Mulligan, Sarah R
AU  - Mulligan SR
FAU - Mallory, Leah A
AU  - Mallory LA
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Pediatr Neurol
JT  - Pediatric neurology
JID - 8508183
RN  - Pyridoxine-dependent epilepsy
SB  - IM
MH  - Epilepsy/*diagnosis/*therapy
MH  - Female
MH  - Humans
MH  - Young Adult
EDAT- 2012/07/05 06:00
MHDA- 2013/05/17 06:00
CRDT- 2012/07/05 06:00
PHST- 2012/01/20 [received]
PHST- 2012/04/19 [accepted]
AID - S0887-8994(12)00178-6 [pii]
AID - 10.1016/j.pediatrneurol.2012.04.018 [doi]
PST - ppublish
SO  - Pediatr Neurol. 2012 Aug;47(2):141-3. doi: 10.1016/j.pediatrneurol.2012.04.018.
TY  - JOUR
AU  - Russell, Kate E.
AU  - Mulligan, Sarah R.
AU  - Mallory, Leah A.
PY  - 2012/Aug/
TI  - Diagnosis of pyridoxine-dependent seizures in a nineteen-year-old patient.
T2  - Pediatr. Neurol.
JO  - Pediatric neurology
SP  - 141
EP  - 143
VL  - 47
IS  - 2
KW  - Epilepsy
KW  - Female
KW  - Humans
KW  - Young Adult
N2  - Although a diagnosis of pyridoxine-dependent seizures may commonly be delayed, this case involves an extremely late diagnosis with associated morbidity. Our patient received pyridoxine during the neonatal period, in conjunction with other antiepileptic drugs that masked its effect. This patient also underwent ventriculoperitoneal shunting, which complicated the diagnosis. Pyridoxine was continued with other antiepileptic drugs, without definite recognition of its therapeutic relationship. Pyridoxine-dependent seizures were finally recognized at age 19 years when the patient manifested refractory status epilepticus, several days after wisdom tooth removal (and discontinuing oral medications including pyridoxine and phenobarbital before surgery). The diagnosis was only established via genetic testing. Our patient highlights the difficulty in diagnosing this rare seizure type and its potential importance in refractory epilepsy.
SN  - 1873-5150
UR  - http://dx.doi.org/10.1016/j.pediatrneurol.2012.04.018
UR  - http://www.ncbi.nlm.nih.gov/pubmed/22759694
ID  - Russell2012
ER  - 
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