PMID- 19928687
OWN - NLM
STAT- MEDLINE
DCOM- 20091229
LR  - 20190917
IS  - 0009-918X (Print)
IS  - 0009-918X (Linking)
VI  - 49
IP  - 9
DP  - 2009 Sep
TI  - [A case of adult-onset type II citrullinemia with repeated nonconvulsive status 
      epilepticus].
PG  - 571-5
AB  - Adult-onset type II citrullinemia (CTLN2) is a hereditary metabolic disorder 
      characterized by highly elevated plasma citrulline and ammonia. Recent studies 
      have identified the "citrin gene" (SLC25A13) as the causative gene for CTLN2. 
      Various neurobehavioral symptoms seen in this disease, such as unconsciousness, 
      disorientation, abnormal behavior, and epilepsy, are thought to be caused by 
      encephalopathy mostly due to hyperammonemia. A 47-year-old woman presented with 
      repeated unconsciousness and abnormal behavior. The high plasma anmonia level was 
      not always associated with her neurobehavioral symptoms (unconsciousness, 
      disorientation, abnormal behavior, and epilepsy), but paroxysmal EEG discharges 
      were invariably associated with these symptoms. Her symptoms and abnormal EEG 
      discharges were sometimes treated with diazepam simultaneously. Based on these 
      findings, we considered that her symptoms were caused by nonconvulsive status 
      epilepticus (NCSE). Until date, neurobehavioral symptoms of CTLN2 are considered 
      to be caused by hyperammonemia or other metabolic factors. We suggest that 
      encephalopathy of CTLN2 is caused not only by hyperammonemia but also by NCSE. 
      Therefore, repeated EEG monitoring is recommended in the follow up of patients 
      with CTLN2.
FAU - Funabe, Sayaka
AU  - Funabe S
AD  - Department of Neurology, Juntendo University School of Medicine.
FAU - Tanaka, Ryota
AU  - Tanaka R
FAU - Urabe, Takao
AU  - Urabe T
FAU - Kawasaki, Seiji
AU  - Kawasaki S
FAU - Kobayashi, Keiko
AU  - Kobayashi K
FAU - Hattori, Nobutaka
AU  - Hattori N
LA  - jpn
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
PL  - Japan
TA  - Rinsho Shinkeigaku
JT  - Rinsho shinkeigaku = Clinical neurology
JID - 0417466
SB  - IM
MH  - Citrullinemia/*complications
MH  - Female
MH  - Humans
MH  - Middle Aged
MH  - Status Epilepticus/*complications
EDAT- 2009/11/26 06:00
MHDA- 2009/12/30 06:00
CRDT- 2009/11/26 06:00
PHST- 2009/11/26 06:00 [entrez]
PHST- 2009/11/26 06:00 [pubmed]
PHST- 2009/12/30 06:00 [medline]
AID - 10.5692/clinicalneurol.49.571 [doi]
PST - ppublish
SO  - Rinsho Shinkeigaku. 2009 Sep;49(9):571-5. doi: 10.5692/clinicalneurol.49.571.