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Benign convulsion with mild gastroenteritis and benign familial infantile seizure
Epilepsy Research 68 (2006) 269–271
Short communication
Benign convulsion with mild gastroenteritis and benign familial infantile seizure Yasunari Sakai a,∗ , Ryutaro Kira a , Hiroyuki Torisu a , Sawa Yasumoto b , Mitsumasa Saito a , Koichi Kusuhara a , Toshiro Hara a a
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan b Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan Received 10 August 2005; received in revised form 16 January 2006; accepted 16 January 2006 Available online 10 February 2006
Abstract The authors present Japanese siblings of a 6-year-old girl and a 4-year-old boy, who concurrently experienced convulsions with mild gastroenteritis. These siblings, their father and paternal grandfather had afebrile seizures that intermittently occurred without symptoms of gastroenteritis and terminated within a few days at their infancy. An underlying genetic factor might not only cause benign familial infantile seizures but it might also confer the susceptibility to the convulsions with mild gastroenteritis in these siblings. © 2006 Elsevier B.V. All rights reserved. Keywords: Convulsion with mild gastroenteritis; Benign familial infantile seizure; Genetic factor
1. Introduction Benign convulsions with mild gastroenteritis are defined as seizures accompanying symptoms of gastroenteritis without the clinical signs of dehydration or electrolyte derangement in children without meningitis, encephalitis or apparent history of neurological dis∗
Corresponding author at: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan. Tel.: +81 92 642 5421; fax: +81 92 642 5435. E-mail address: [email protected] (Y. Sakai). 0920-1211/$ – see front matter © 2006 Elsevier B.V. All rights reserved. doi:10.1016/j.eplepsyres.2006.01.004
eases (Uemura et al., 2002; Narchi, 2004). The convulsions are characterized by clusters of afebrile seizures with focal onsets, which usually occur in children aged from 9 to 60 months (Narchi, 2004). The seizure and developmental outcomes have been reported to be excellent (Abe et al., 2000; Caraballo et al., 2003; Narchi, 2004). Because of the clinical pictures that resemble those of benign familial infantile seizures, convulsions with mild gastroenteritis have been classified into the clinical category of benign infantile convulsions. However, most cases of convulsions with mild gastroenteritis have been reported as sporadic in occurrence (Uemura et al., 2002). Thus, the etiology
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Y. Sakai et al. / Epilepsy Research 68 (2006) 269–271
of this disease remains largely unknown in contrast with that of benign familial infantile seizures (Guipponi et al., 1997; Caraballo et al., 2001; Malacarne et al., 2001). We report here two Japanese siblings, who had histories of benign familial infantile seizures and concurrently experienced afebrile convulsions with mild gastroenteritis. To our knowledge, this is the first report on the familial cases of convulsions with mild gastroenteritis, who had histories of benign familial infantile seizures.
2. Case report A 4-year-old boy (Patient 1) experienced two times of afebrile convulsions on the third day of infectious gastroenteritis. Two days later, his sister aged 6 years (Patient 2), who had also 3-day history of gastroenteritis, presented with the convulsions similar to those observed in Patient 1 for two times in 1 day. Rotavirus antigen was proved in the diarrheic stool of Patient 1, but not in that of Patient 2. The recurrent convulsions in these patients began with deviation of the eyes to the right side, developed into the general tonic–clonic seizure and ceased within 5 min. Both patients were afebrile before and after the seizures, and their consciousness was alert on admission. Laboratory data on the serum electrolytes and blood glucose levels exhibited the normal values. The numbers of leukocytes in the cerebrospinal fluids were not increased. The cranial CT scanning did not show any substantial changes in their brains. The seizures of the patients subsided spontaneously. Neither the recurrence of seizures nor abnormal findings in the follow-up EEG have been observed so far. In addition, none of the other children in their kindergarten presented with such afebrile seizures, meningitis or encephalitis throughout this season. The siblings had no complications at birth. Their growth and development were also favorable in infancy. At 4 months of their respective ages, they had an episode of afebrile seizures without symptoms of infectious gastroenteritis. The seizures consisted of staring, cyanosis and tonic extension of trunk and limbs, which occurred three or four times a day. Each seizure terminated within 1 or 2 min, and was followed by complete recoveries of consciousness and unaltered activities. For both patients, remission took place after the 4-
day histories of the intermittent seizures. In addition to these siblings, their father had an episode of afebrile seizures at 6 months of age, which resulted in spontaneous regression within a few days, as observed in Patients 1 and 2. The seizures were not accompanied by symptoms of gastroenteritis, and he had never experienced the recurrence of seizures thereafter. Furthermore, their paternal grandfather had the similar episode of afebrile seizure, which occurred only at his infancy without symptoms of gastroenteritis. The siblings received the medication with carbamazepine until 2 years of age under the diagnosis of benign familial infantile seizure. Patient 1 had an episode of tonic–clonic seizure at 16 months of age, which was probably triggered by the selfdiscontinuation of the medication. Such seizures had not been observed during the scheduled reduction of the carbamazepine. Except for this episode, no recurrence of the seizures or abnormal findings in EEG were not observed until the current episode for these siblings.
3. Discussion Convulsions with mild gastroenteritis are commonly observed in infancy and childhood. Nonetheless, few reports have clearly demonstrated the familial cases or the genetic predisposition to this disease in contrast to benign familial infantile seizure (Caraballo et al., 2003). The present family including Patients 1 and 2 had similar histories of afebrile seizures at their infancy, indicating that this family inherits a gene responsible for benign familial infantile seizures with an autosomal dominant trait. Considering that no other children in their kindergarten developed afebrile seizures or encephalitis throughout the season, it was unlikely that highly virulent virus caused the convulsions. Therefore, the present cases suggest that an underlying genetic factor might not only cause the infantile seizures but also confer the susceptibility to the convulsions with mild gastroenteritis. Further investigations are required to explore the possibility that children with histories of benign familial infantile seizures have a higher risk for the development of the convulsions with mild gastroenteritis than those without such familial histories. Cases published in literature have not mentioned a high incidence of familial histories of epilepsy, and thus it is necessary
Y. Sakai et al. / Epilepsy Research 68 (2006) 269–271
to examine whether or not a correlation exists between convulsions with mild gastroenteritis and benign familial infantile seizures. Acknowledgements We thank Dr. Takahito Inoue and Professor Akihisa Mitsudome at Department of Pediatrics, Fukuoka University for providing the clinical information on the present cases. This work was supported by Grantin-Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science and Technology of Japan. References Abe, T., Kobayashi, M., Araki, K., Kodama, H., Fujita, Y., Shinozaki, T., Ushijima, H., 2000. Infantile convulsions with mild gastroenteritis. Brain Dev. 22, 301–306. Caraballo, R., Pavek, S., Lemainque, A., Gastaldi, M., Echenne, B., Motte, J., Genton, P., Cersosimo, R., Humbertclaude, V.,
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Fejerman, N., Monaco, A.P., Lathrop, M.G., Rochette, J., Szepetowski, P., 2001. Linkage of benign familial infantile convulsions to chromosome 16p12–q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome. Am. J. Hum. Genet. 68, 788–794. Caraballo, R.H., Cersosimo, R.O., Espeche, A., Fejerman, N., 2003. Benign familial and non-familial infantile seizures: a study of 64 patients. Epileptic Disord. 5, 45–49. Guipponi, M., Rivier, F., Vigevano, F., Beck, C., Crespel, A., Echenne, B., Lucchini, P., Sebastianelli, R., Baldy-Moulinier, M., Malafosse, A., 1997. Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q. Hum. Mol. Genet. 6, 473–477. Malacarne, M., Gennaro, E., Madia, F., Pozzi, S., Vacca, D., Barone, B., dalla Bernardina, B., Bianchi, A., Bonanni, P., De Marco, P., Gambardella, A., Giordano, L., Lispi, M.L., Romeo, A., Santorum, E., Vanadia, F., Vecchi, M., Veggiotti, P., Vigevano, F., Viri, F., Bricarelli, F.D., Zara, F., 2001. Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity. Am. J. Hum. Genet. 68, 1521–1526. Narchi, H., 2004. Benign afebrile cluster convulsions with gastroenteritis: an observational study. BMC Pediatr. 4, 2. Uemura, N., Okumura, A., Negoro, T., Watanabe, K., 2002. Clinical features of benign convulsions with mild gastroenteritis. Brain Dev. 24, 745–749.
Short communication
Benign convulsion with mild gastroenteritis and benign familial infantile seizure Yasunari Sakai a,∗ , Ryutaro Kira a , Hiroyuki Torisu a , Sawa Yasumoto b , Mitsumasa Saito a , Koichi Kusuhara a , Toshiro Hara a a
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan b Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan Received 10 August 2005; received in revised form 16 January 2006; accepted 16 January 2006 Available online 10 February 2006
Abstract The authors present Japanese siblings of a 6-year-old girl and a 4-year-old boy, who concurrently experienced convulsions with mild gastroenteritis. These siblings, their father and paternal grandfather had afebrile seizures that intermittently occurred without symptoms of gastroenteritis and terminated within a few days at their infancy. An underlying genetic factor might not only cause benign familial infantile seizures but it might also confer the susceptibility to the convulsions with mild gastroenteritis in these siblings. © 2006 Elsevier B.V. All rights reserved. Keywords: Convulsion with mild gastroenteritis; Benign familial infantile seizure; Genetic factor
1. Introduction Benign convulsions with mild gastroenteritis are defined as seizures accompanying symptoms of gastroenteritis without the clinical signs of dehydration or electrolyte derangement in children without meningitis, encephalitis or apparent history of neurological dis∗
Corresponding author at: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan. Tel.: +81 92 642 5421; fax: +81 92 642 5435. E-mail address: [email protected] (Y. Sakai). 0920-1211/$ – see front matter © 2006 Elsevier B.V. All rights reserved. doi:10.1016/j.eplepsyres.2006.01.004
eases (Uemura et al., 2002; Narchi, 2004). The convulsions are characterized by clusters of afebrile seizures with focal onsets, which usually occur in children aged from 9 to 60 months (Narchi, 2004). The seizure and developmental outcomes have been reported to be excellent (Abe et al., 2000; Caraballo et al., 2003; Narchi, 2004). Because of the clinical pictures that resemble those of benign familial infantile seizures, convulsions with mild gastroenteritis have been classified into the clinical category of benign infantile convulsions. However, most cases of convulsions with mild gastroenteritis have been reported as sporadic in occurrence (Uemura et al., 2002). Thus, the etiology
270
Y. Sakai et al. / Epilepsy Research 68 (2006) 269–271
of this disease remains largely unknown in contrast with that of benign familial infantile seizures (Guipponi et al., 1997; Caraballo et al., 2001; Malacarne et al., 2001). We report here two Japanese siblings, who had histories of benign familial infantile seizures and concurrently experienced afebrile convulsions with mild gastroenteritis. To our knowledge, this is the first report on the familial cases of convulsions with mild gastroenteritis, who had histories of benign familial infantile seizures.
2. Case report A 4-year-old boy (Patient 1) experienced two times of afebrile convulsions on the third day of infectious gastroenteritis. Two days later, his sister aged 6 years (Patient 2), who had also 3-day history of gastroenteritis, presented with the convulsions similar to those observed in Patient 1 for two times in 1 day. Rotavirus antigen was proved in the diarrheic stool of Patient 1, but not in that of Patient 2. The recurrent convulsions in these patients began with deviation of the eyes to the right side, developed into the general tonic–clonic seizure and ceased within 5 min. Both patients were afebrile before and after the seizures, and their consciousness was alert on admission. Laboratory data on the serum electrolytes and blood glucose levels exhibited the normal values. The numbers of leukocytes in the cerebrospinal fluids were not increased. The cranial CT scanning did not show any substantial changes in their brains. The seizures of the patients subsided spontaneously. Neither the recurrence of seizures nor abnormal findings in the follow-up EEG have been observed so far. In addition, none of the other children in their kindergarten presented with such afebrile seizures, meningitis or encephalitis throughout this season. The siblings had no complications at birth. Their growth and development were also favorable in infancy. At 4 months of their respective ages, they had an episode of afebrile seizures without symptoms of infectious gastroenteritis. The seizures consisted of staring, cyanosis and tonic extension of trunk and limbs, which occurred three or four times a day. Each seizure terminated within 1 or 2 min, and was followed by complete recoveries of consciousness and unaltered activities. For both patients, remission took place after the 4-
day histories of the intermittent seizures. In addition to these siblings, their father had an episode of afebrile seizures at 6 months of age, which resulted in spontaneous regression within a few days, as observed in Patients 1 and 2. The seizures were not accompanied by symptoms of gastroenteritis, and he had never experienced the recurrence of seizures thereafter. Furthermore, their paternal grandfather had the similar episode of afebrile seizure, which occurred only at his infancy without symptoms of gastroenteritis. The siblings received the medication with carbamazepine until 2 years of age under the diagnosis of benign familial infantile seizure. Patient 1 had an episode of tonic–clonic seizure at 16 months of age, which was probably triggered by the selfdiscontinuation of the medication. Such seizures had not been observed during the scheduled reduction of the carbamazepine. Except for this episode, no recurrence of the seizures or abnormal findings in EEG were not observed until the current episode for these siblings.
3. Discussion Convulsions with mild gastroenteritis are commonly observed in infancy and childhood. Nonetheless, few reports have clearly demonstrated the familial cases or the genetic predisposition to this disease in contrast to benign familial infantile seizure (Caraballo et al., 2003). The present family including Patients 1 and 2 had similar histories of afebrile seizures at their infancy, indicating that this family inherits a gene responsible for benign familial infantile seizures with an autosomal dominant trait. Considering that no other children in their kindergarten developed afebrile seizures or encephalitis throughout the season, it was unlikely that highly virulent virus caused the convulsions. Therefore, the present cases suggest that an underlying genetic factor might not only cause the infantile seizures but also confer the susceptibility to the convulsions with mild gastroenteritis. Further investigations are required to explore the possibility that children with histories of benign familial infantile seizures have a higher risk for the development of the convulsions with mild gastroenteritis than those without such familial histories. Cases published in literature have not mentioned a high incidence of familial histories of epilepsy, and thus it is necessary
Y. Sakai et al. / Epilepsy Research 68 (2006) 269–271
to examine whether or not a correlation exists between convulsions with mild gastroenteritis and benign familial infantile seizures. Acknowledgements We thank Dr. Takahito Inoue and Professor Akihisa Mitsudome at Department of Pediatrics, Fukuoka University for providing the clinical information on the present cases. This work was supported by Grantin-Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science and Technology of Japan. References Abe, T., Kobayashi, M., Araki, K., Kodama, H., Fujita, Y., Shinozaki, T., Ushijima, H., 2000. Infantile convulsions with mild gastroenteritis. Brain Dev. 22, 301–306. Caraballo, R., Pavek, S., Lemainque, A., Gastaldi, M., Echenne, B., Motte, J., Genton, P., Cersosimo, R., Humbertclaude, V.,
271
Fejerman, N., Monaco, A.P., Lathrop, M.G., Rochette, J., Szepetowski, P., 2001. Linkage of benign familial infantile convulsions to chromosome 16p12–q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome. Am. J. Hum. Genet. 68, 788–794. Caraballo, R.H., Cersosimo, R.O., Espeche, A., Fejerman, N., 2003. Benign familial and non-familial infantile seizures: a study of 64 patients. Epileptic Disord. 5, 45–49. Guipponi, M., Rivier, F., Vigevano, F., Beck, C., Crespel, A., Echenne, B., Lucchini, P., Sebastianelli, R., Baldy-Moulinier, M., Malafosse, A., 1997. Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q. Hum. Mol. Genet. 6, 473–477. Malacarne, M., Gennaro, E., Madia, F., Pozzi, S., Vacca, D., Barone, B., dalla Bernardina, B., Bianchi, A., Bonanni, P., De Marco, P., Gambardella, A., Giordano, L., Lispi, M.L., Romeo, A., Santorum, E., Vanadia, F., Vecchi, M., Veggiotti, P., Vigevano, F., Viri, F., Bricarelli, F.D., Zara, F., 2001. Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity. Am. J. Hum. Genet. 68, 1521–1526. Narchi, H., 2004. Benign afebrile cluster convulsions with gastroenteritis: an observational study. BMC Pediatr. 4, 2. Uemura, N., Okumura, A., Negoro, T., Watanabe, K., 2002. Clinical features of benign convulsions with mild gastroenteritis. Brain Dev. 24, 745–749.