Tags

Type your tag names separated by a space and hit enter

Refractory and lethal status epilepticus in a patient with ring chromosome 20 syndrome.
Epileptic Disord. 2008 Dec; 10(4):254-9.ED

Abstract

PURPOSE

The only consistent symptom of ring chromosome 20 syndrome (r(20)) is severe, refractory epilepsy often associated with a characteristic, although not pathognomonic, EEG pattern. Patients suffer from severe seizures with accompanying cognitive decline and frequent episodes of non-convulsive status epilepticus (SE). Other features of this rare disorder, such as dysmorphic changes, mental retardation and behavioral disturbances are variable. Because of the variability of the clinical presentation, some patients with r(20) undergo invasive investigations before being diagnosed.

CASE STUDY

We present the case of a young boy with no dysmorphic traits, who was only diagnosed with r (20) syndrome at the age of 13. His first seizure occurred at the age of four. Later seizures were of various types including non-convulsive SE, with deterioration of the background EEG and severe cognitive decline. Despite multiple trials of anti-epileptic medications, his seizures remained highly refractory, and he died as the result of an uncontrollable, prolonged SE, shortly after the diagnosis was made.

DISCUSSION

Non-convulsive SE is common in patients with r(20) syndrome and may be caused by a dysfunction in dopaminergic neurotransmission. However, until now, no case of lethal status epilepticus has been reported. This case report suggests that patients with unexplained refractory seizures and episodes of non-convulsive SE should undergo genetic testing early in their disease, even in the absence of any morphologic features or dysmorphic traits suggestive of a chromosomal disease.

Links

Publisher Full Text
jle.com
john-libbey-eurotext.fr

Authors+Show Affiliations

Jacobs J
Montreal Neurological Institute and Hospital, Quebec, Canada. julia.jacobs@gmx.de
Bernard G
No affiliation info available
Andermann E
No affiliation info available
Dubeau F
No affiliation info available
Andermann F
No affiliation info available

MeSH

AdolescentAnticonvulsantsBrainChromosome AberrationsComaDrug ResistanceEpilepsy, AbsenceFatal OutcomeHumansHyperkinesisKaryotypingMagnetic Resonance ImagingMaleRing ChromosomesShockStatus EpilepticusStereotyped Behavior

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19017565

Citation

Jacobs, Julia, et al. "Refractory and Lethal Status Epilepticus in a Patient With Ring Chromosome 20 Syndrome." Epileptic Disorders : International Epilepsy Journal With Videotape, vol. 10, no. 4, 2008, pp. 254-9.
Jacobs J, Bernard G, Andermann E, et al. Refractory and lethal status epilepticus in a patient with ring chromosome 20 syndrome. Epileptic Disord. 2008;10(4):254-9.
Jacobs, J., Bernard, G., Andermann, E., Dubeau, F., & Andermann, F. (2008). Refractory and lethal status epilepticus in a patient with ring chromosome 20 syndrome. Epileptic Disorders : International Epilepsy Journal With Videotape, 10(4), 254-9. https://doi.org/10.1684/epd.2008.0212
Jacobs J, et al. Refractory and Lethal Status Epilepticus in a Patient With Ring Chromosome 20 Syndrome. Epileptic Disord. 2008;10(4):254-9. PubMed PMID: 19017565.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Refractory and lethal status epilepticus in a patient with ring chromosome 20 syndrome. AU - Jacobs,Julia, AU - Bernard,Geneviève, AU - Andermann,Eva, AU - Dubeau,François, AU - Andermann,Frederick, PY - 2008/03/21/received PY - 2008/08/31/accepted PY - 2008/11/20/pubmed PY - 2009/1/10/medline PY - 2008/11/20/entrez SP - 254 EP - 9 JF - Epileptic disorders : international epilepsy journal with videotape JO - Epileptic Disord VL - 10 IS - 4 N2 - PURPOSE: The only consistent symptom of ring chromosome 20 syndrome (r(20)) is severe, refractory epilepsy often associated with a characteristic, although not pathognomonic, EEG pattern. Patients suffer from severe seizures with accompanying cognitive decline and frequent episodes of non-convulsive status epilepticus (SE). Other features of this rare disorder, such as dysmorphic changes, mental retardation and behavioral disturbances are variable. Because of the variability of the clinical presentation, some patients with r(20) undergo invasive investigations before being diagnosed. CASE STUDY: We present the case of a young boy with no dysmorphic traits, who was only diagnosed with r (20) syndrome at the age of 13. His first seizure occurred at the age of four. Later seizures were of various types including non-convulsive SE, with deterioration of the background EEG and severe cognitive decline. Despite multiple trials of anti-epileptic medications, his seizures remained highly refractory, and he died as the result of an uncontrollable, prolonged SE, shortly after the diagnosis was made. DISCUSSION: Non-convulsive SE is common in patients with r(20) syndrome and may be caused by a dysfunction in dopaminergic neurotransmission. However, until now, no case of lethal status epilepticus has been reported. This case report suggests that patients with unexplained refractory seizures and episodes of non-convulsive SE should undergo genetic testing early in their disease, even in the absence of any morphologic features or dysmorphic traits suggestive of a chromosomal disease. SN - 1294-9361 UR - https://www.unboundmedicine.com/medline/citation/19017565/Refractory_and_lethal_status_epilepticus_in_a_patient_with_ring_chromosome_20_syndrome_ L2 - http://www.jle.com/medline.md?issn=1294-9361&vol=10&iss=4&page=254 DB - PRIME DP - Unbound Medicine ER -