527081 research-article2014
EEGXXX10.1177/1550059414527081Clinical EEG and NeuroscienceIlik and Bilgilisoy
Article
Agenesis of the Corpus Callosum and Generalized Epilepsy
Clinical EEG and Neuroscience 1–3 © EEG and Clinical Neuroscience Society (ECNS) 2014 Reprints and permissions: sagepub.com/journalsPermissions.nav DOI: 10.1177/1550059414527081 eeg.sagepub.com
Faik Ilik1 and Ugur T. Bilgilisoy2
Abstract The corpus callosum is the main band of interhemispheric axonal fibers in the human brain. Corpus callosum agenesis has widely varying symptoms, mainly associated with epilepsy, cognitive failure, and different neuropsychiatric disorders. Our case of corpus callosum agenesis includes eyelid myoclonia with absences. In the literature, there is no reported case of this combination. We report this case because it is rare, and relevant for the understanding of interhemispheric communications, based on our electrophysiological findings. Keywords corpus callosum agenesis, generalized epilepsy, absences, electroencephalogram (EEG), anticonvulsants Received January 17, 2014; accepted February 8, 2014.
Introduction The corpus callosum is the largest white matter structure in the brain, and connects the left and right hemispheres.1 The clinical spectrum of corpus callosum agenesis varies widely as epilepsy, cognitive failure, and different neuropsychiatric symptoms.2 In autopsy series, it is reported in 1/19,000 to 1/40,000.3 In our case, there is eyelid myoclonia with absences. To our knowledge, this is the first case of this combination in the literature. Generalized seizures in corpus callosum agenesis are discussed in the literature, according to clinical findings and electrophysiological examinations.
Case An 11-year-old girl presented to our neurology clinic with eye rolling and rapid eye blinking that occurred suddenly and intermittently. They started about 3 months prior, and were first observed by her teacher. Seizures occurred about 10 times a day, and became frequent when exposed to bright light, like in video games. Her birth weight was 3500 g, she was born vaginally and had no birth trauma. The patient had an unremarkable perinatal history, and motor and mental development was normal. Her mother and father were relatives. Neurologic and physical exams were normal. Six months earlier, she had a urinary tract infection. There was no history of genetic disease. The IQ score was normal. Brain magnetic resonance imaging showed corpus callosum agenesis and colpocephaly (Figure 1). Generalized spike wave paroxysms, concomitant with eyelid myoclonia, were present in the EEG, and occurred with photic stimulation, sometimes with eyes closed (Figure 2). Valproic acid therapy was given, based on the patient’s seizure type and
Figure 1. Brain magnetic resonance imaging shows corpus callosum agenesis and colpocephaly. 1
Department of Neurology, Elbistan State Hospital, Kahramanmaras, Turkey Department of Urology, Elbistan State Hospital, Kahramanmaras, Turkey
2
Corresponding Author: Faik Ilik, Department of Neurology, Elbistan State Hospital, Elbistan, Kahramanmaras, 46300, Turkey. Email: [email protected] Full-color figures are available online at http://eeg.sagepub.com
Downloaded from eeg.sagepub.com at UNIV NEBRASKA LIBRARIES on September 9, 2015
2
Clinical EEG and Neuroscience
Figure 2. Generalized spike wave paroxysms concomitant to eyelid myoclonia seen in the electroencephalogram.
EEG findings. One month later, valproic acid level was 87 µg/ mL and seizures had not recurred.
Discussion
We report this case because it is rare, and our electrophysiological findings help explain interhemispheric communications. Authors’ Note
The corpus callosum is the main band of interhemispheric axonal fibers in the human brain.1 Corpus callosum agenesis can be seen alone, or with other anomalies. In past years, it has been diagnosed prenatally.4 In our case, corpus callosum agenesis was concomitant with colpocephaly, and few such cases have been reported.5 Seizures appeared as repeated eye rolling and rapid, frequent eye blinking. EEG showed generalized 2.5to 4-Hz spike wave activities, triggered by photic stimulation. In eyelid myoclonia with absence, absence seizure is relatively longer and eyelid myoclonia more pronounced. It is a photosensitive epilepsy, and 2.5- to 4-Hz spike wave activities are seen on EEG.6 In our case, despite the absence of corpus callosum, it was interesting to see generalized seizures. Corpus callosum is the major pathway that generalizes seizures from epileptogenic areas. Corpus callosotomy is performed in patients with generalized seizures, whose epileptogenic focus could not be determined.7 In our patient, despite complete absence of corpus callosum, photosensitive generalized epileptiform activity occurred. In some patients, corpus callosotomy may not be sufficient to control seizures. In our case, electrophysiologic and clinical findings verify that there may be other interhemispheric junctions, which could be the reason for ineffectiveness of corpus callosectomy.
All necessary ethical permissions were received from the patient and our department.
Declaration of Conflicting Interests The author(s) declared no conflicts of interest with respect to the research, authorship, and/or publication of this article.
Funding The author(s) received no financial support for the research, authorship, and/or publication of this article.
References 1. Owen JP, Li YO, Yang FP, Bukshpun P, Vora S, Wakahiro M, et al. Resting State Networks and the Functional Connectome of the Human Brain in Agenesis of the Corpus Callosum. Brain Connect. 2013; 3(6): 547-62. 2. Siffredi V, Anderson V, Leventer RJ, Spencer-Smith MM. Neuropsychological profile of agenesis of the corpus callosum: a systematic review. Dev Neuropsychol. 2013;38(1): 36-57. 3. David AS, Wacharasindhu A: Severe psychiatric distur- bances and abnormalities of the corpus callosum. J Neurol Neurosurg Psychiatry 1993; 56:85-86.
Downloaded from eeg.sagepub.com at UNIV NEBRASKA LIBRARIES on September 9, 2015
3
Ilik and Bilgilisoy 4. Santo S, D’Antonio F, Homfray T, Rich P, Pilu G, Bhide A, et al. Counseling in fetal medicine: agenesis of the corpus callosum. Ultrasound Obstet Gynecol. 2012 ;40(5):513-21. 5. Puvabanditsin S, Garrow E, Ostrerov Y, Trucanu D, Ilic M, Cholenkeril JV. Colpocephaly: a case report. Am J Perinatol. 2006; 23(5):295-7.
6. Uysal-Soyer O, Yalnizoglu D, Turanli G. The classification and differential diagnosis of absence seizures with short-term video-EEG monitoring during childhood. Turk J Pediatr. 2012; 54(1):7-14. 7. Bower RS, Wirrell E, Nwojo M, Wetjen NM, Marsh WR, Meyer FB. Seizure Outcomes Following Corpus Callosotomy for Drop Attacks. Neurosurgery 2013; 73(6): 993-1000.
Downloaded from eeg.sagepub.com at UNIV NEBRASKA LIBRARIES on September 9, 2015
EEGXXX10.1177/1550059414527081Clinical EEG and NeuroscienceIlik and Bilgilisoy
Article
Agenesis of the Corpus Callosum and Generalized Epilepsy
Clinical EEG and Neuroscience 1–3 © EEG and Clinical Neuroscience Society (ECNS) 2014 Reprints and permissions: sagepub.com/journalsPermissions.nav DOI: 10.1177/1550059414527081 eeg.sagepub.com
Faik Ilik1 and Ugur T. Bilgilisoy2
Abstract The corpus callosum is the main band of interhemispheric axonal fibers in the human brain. Corpus callosum agenesis has widely varying symptoms, mainly associated with epilepsy, cognitive failure, and different neuropsychiatric disorders. Our case of corpus callosum agenesis includes eyelid myoclonia with absences. In the literature, there is no reported case of this combination. We report this case because it is rare, and relevant for the understanding of interhemispheric communications, based on our electrophysiological findings. Keywords corpus callosum agenesis, generalized epilepsy, absences, electroencephalogram (EEG), anticonvulsants Received January 17, 2014; accepted February 8, 2014.
Introduction The corpus callosum is the largest white matter structure in the brain, and connects the left and right hemispheres.1 The clinical spectrum of corpus callosum agenesis varies widely as epilepsy, cognitive failure, and different neuropsychiatric symptoms.2 In autopsy series, it is reported in 1/19,000 to 1/40,000.3 In our case, there is eyelid myoclonia with absences. To our knowledge, this is the first case of this combination in the literature. Generalized seizures in corpus callosum agenesis are discussed in the literature, according to clinical findings and electrophysiological examinations.
Case An 11-year-old girl presented to our neurology clinic with eye rolling and rapid eye blinking that occurred suddenly and intermittently. They started about 3 months prior, and were first observed by her teacher. Seizures occurred about 10 times a day, and became frequent when exposed to bright light, like in video games. Her birth weight was 3500 g, she was born vaginally and had no birth trauma. The patient had an unremarkable perinatal history, and motor and mental development was normal. Her mother and father were relatives. Neurologic and physical exams were normal. Six months earlier, she had a urinary tract infection. There was no history of genetic disease. The IQ score was normal. Brain magnetic resonance imaging showed corpus callosum agenesis and colpocephaly (Figure 1). Generalized spike wave paroxysms, concomitant with eyelid myoclonia, were present in the EEG, and occurred with photic stimulation, sometimes with eyes closed (Figure 2). Valproic acid therapy was given, based on the patient’s seizure type and
Figure 1. Brain magnetic resonance imaging shows corpus callosum agenesis and colpocephaly. 1
Department of Neurology, Elbistan State Hospital, Kahramanmaras, Turkey Department of Urology, Elbistan State Hospital, Kahramanmaras, Turkey
2
Corresponding Author: Faik Ilik, Department of Neurology, Elbistan State Hospital, Elbistan, Kahramanmaras, 46300, Turkey. Email: [email protected] Full-color figures are available online at http://eeg.sagepub.com
Downloaded from eeg.sagepub.com at UNIV NEBRASKA LIBRARIES on September 9, 2015
2
Clinical EEG and Neuroscience
Figure 2. Generalized spike wave paroxysms concomitant to eyelid myoclonia seen in the electroencephalogram.
EEG findings. One month later, valproic acid level was 87 µg/ mL and seizures had not recurred.
Discussion
We report this case because it is rare, and our electrophysiological findings help explain interhemispheric communications. Authors’ Note
The corpus callosum is the main band of interhemispheric axonal fibers in the human brain.1 Corpus callosum agenesis can be seen alone, or with other anomalies. In past years, it has been diagnosed prenatally.4 In our case, corpus callosum agenesis was concomitant with colpocephaly, and few such cases have been reported.5 Seizures appeared as repeated eye rolling and rapid, frequent eye blinking. EEG showed generalized 2.5to 4-Hz spike wave activities, triggered by photic stimulation. In eyelid myoclonia with absence, absence seizure is relatively longer and eyelid myoclonia more pronounced. It is a photosensitive epilepsy, and 2.5- to 4-Hz spike wave activities are seen on EEG.6 In our case, despite the absence of corpus callosum, it was interesting to see generalized seizures. Corpus callosum is the major pathway that generalizes seizures from epileptogenic areas. Corpus callosotomy is performed in patients with generalized seizures, whose epileptogenic focus could not be determined.7 In our patient, despite complete absence of corpus callosum, photosensitive generalized epileptiform activity occurred. In some patients, corpus callosotomy may not be sufficient to control seizures. In our case, electrophysiologic and clinical findings verify that there may be other interhemispheric junctions, which could be the reason for ineffectiveness of corpus callosectomy.
All necessary ethical permissions were received from the patient and our department.
Declaration of Conflicting Interests The author(s) declared no conflicts of interest with respect to the research, authorship, and/or publication of this article.
Funding The author(s) received no financial support for the research, authorship, and/or publication of this article.
References 1. Owen JP, Li YO, Yang FP, Bukshpun P, Vora S, Wakahiro M, et al. Resting State Networks and the Functional Connectome of the Human Brain in Agenesis of the Corpus Callosum. Brain Connect. 2013; 3(6): 547-62. 2. Siffredi V, Anderson V, Leventer RJ, Spencer-Smith MM. Neuropsychological profile of agenesis of the corpus callosum: a systematic review. Dev Neuropsychol. 2013;38(1): 36-57. 3. David AS, Wacharasindhu A: Severe psychiatric distur- bances and abnormalities of the corpus callosum. J Neurol Neurosurg Psychiatry 1993; 56:85-86.
Downloaded from eeg.sagepub.com at UNIV NEBRASKA LIBRARIES on September 9, 2015
3
Ilik and Bilgilisoy 4. Santo S, D’Antonio F, Homfray T, Rich P, Pilu G, Bhide A, et al. Counseling in fetal medicine: agenesis of the corpus callosum. Ultrasound Obstet Gynecol. 2012 ;40(5):513-21. 5. Puvabanditsin S, Garrow E, Ostrerov Y, Trucanu D, Ilic M, Cholenkeril JV. Colpocephaly: a case report. Am J Perinatol. 2006; 23(5):295-7.
6. Uysal-Soyer O, Yalnizoglu D, Turanli G. The classification and differential diagnosis of absence seizures with short-term video-EEG monitoring during childhood. Turk J Pediatr. 2012; 54(1):7-14. 7. Bower RS, Wirrell E, Nwojo M, Wetjen NM, Marsh WR, Meyer FB. Seizure Outcomes Following Corpus Callosotomy for Drop Attacks. Neurosurgery 2013; 73(6): 993-1000.
Downloaded from eeg.sagepub.com at UNIV NEBRASKA LIBRARIES on September 9, 2015
