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Abstract
Background: Parents of children with infantile spasms undergoing epilepsy surgery typically inquire about the risk of other children for a similar affliction. Here, we determined whether non-syndromic patients with infantile spasms and malformation of cortical development (MCD) have a family history of seizures, particularly in siblings.
Patients and methods: We selected 29 children with intractable infantile/epileptic spasms who underwent surgery (mean age at surgery: 4.4±3.8 years; 12 males, 17 females; age range 0.8-14.9 years). A pathological diagnosis of MCD was confirmed in all the patients. Family (including parents, and siblings) history of seizures was acquired in all patients through neurology chart review/telephonic interview.
Results: Pathological diagnosis of migration disorder (16) and cortical dysplasia (9) was made in these patients. Diagnosis of hemimegalencephaly, dysembryoplastic neuroepithelial tumor (DNET), lissencephaly type1 and porencephaly was also confirmed in 4 different patients. None of the siblings in any family (total number of siblings in the group = 30) were affected by infantile spasms or other types of seizures. The maternal aunt of one patient and mother of another patient had a history of childhood seizures for short durations.
Conclusions: Our retrospective study showed that patients with infantile spasms with MCD who underwent resective surgery have low sibling recurrence risk for seizures. Our study suggests that de novo mutations and non-genetic or epigenetic factors are major causes of infantile spasms due to MCD.
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References
1. Nabbout R, Dulac O (2008) Epileptic syndromes in infancy and childhood. Curr Opin Neurol 21 (2):161-6. Crossref Pubmed
2. Riikonen R, Donner M (1979) Incidence and aetiology of infantile spasms from 1960 to 1976: a population study in Finland. Dev Med Child Neurol 21 (3):333-43. Pubmed
3. Hemminki K, Li X, Johansson SE, Sundquist K, Sundquist J (2006) Familial risks for epilepsy among siblings based on hospitalizations in Sweden. Neuroepidemiology 27 (2):67-73. Crossref Pubmed
4. Tiwari VN, Sundaram SK, Chugani HT, Huq AH (2013) Infantile spasms are associated with abnormal copy number variations. J Child Neurol 28 (10):1191-6. Crossref Pubmed
5. Chugani HT, Shields WD, Shewmon DA, Olson DM, Phelps ME, Peacock WJ (1990) Infantile spasms: I. PET identifies focal cortical dysgenesis in cryptogenic cases for surgical treatment. Ann Neurol 27 (4):406-13. Crossref Pubmed
6. Chugani HT, Conti JR (1996) Etiologic classification of infantile spasms in 140 cases: role of positron emission tomography. J Child Neurol 11 (1):44-8. Pubmed
7. Parrini E, Mei D, Conti V, Sgado P, Marini C and Guerrini R: Cortical dysplasias of genetic origin, in Genetics of Epilepsy and Genetic Epilepsies, G. Avanzini and J. Noebels. John Libbey Eurotext; 2009;175-194.
8. Montenegro MA, Guerreiro MM, Lopes-Cendes I, Guerreiro CA, Li LM, Cendes F (2002) Association of family history of epilepsy with earlier age at seizure onset in patients with focal cortical dysplasia. Mayo Clin Proc 77 (12):1291-4. Crossref Pubmed
9. Chugani HT, Kumar A, Kupsky W, Asano E, Sood S, Juhász C (2011) Clinical and histopathologic correlates of 11C-alpha-methyl-L-tryptophan (AMT) PET abnormalities in children with intractable epilepsy. Epilepsia 52 (9):1692-8. Crossref Pubmed
10. Barkovich AJ, Kuzniecky RI, Dobyns WB, Jackson GD, Becker LE, Evrard P (1996) A classification scheme for malformations of cortical development. Neuropediatrics 27 (2):59-63. Crossref Pubmed
11. Leventer RJ, Guerrini R, Dobyns WB (2008) Malformations of cortical development and epilepsy. Dialogues Clin Neurosci 10 (1):47-62. Pubmed
12. Palmini A, Najm I, Avanzini G, Babb T, Guerrini R, Foldvary-Schaefer N et al. (2004) Terminology and classification of the cortical dysplasias. Neurology 62 (6 Suppl 3):S2-8. Pubmed
13. Paciorkowski AR, Thio LL, Rosenfeld JA, Gajecka M, Gurnett CA, Kulkarni S et al. (2011) Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function. Eur J Hum Genet 19 (12):1238-45. Crossref Pubmed
14. Vinters HV (2002) Histopathology of brain tissue from patients with infantile spasms. Int Rev Neurobiol 49 ():63-76. Pubmed
15. Sun Y, Vestergaard M, Christensen J, Nahmias AJ, Olsen J (2008) Prenatal exposure to maternal infections and epilepsy in childhood: a population-based cohort study. Pediatrics 121 (5):e1100-7. Crossref Pubmed
16. Do CB, Hinds DA, Francke U, Eriksson N (2012) Comparison of family history and SNPs for predicting risk of complex disease. PLoS Genet 8 (10):e1002973. Crossref Pubmed
References
1. Nabbout R, Dulac O (2008) Epileptic syndromes in infancy and childhood. Curr Opin Neurol 21 (2):161-6. Crossref Pubmed
2. Riikonen R, Donner M (1979) Incidence and aetiology of infantile spasms from 1960 to 1976: a population study in Finland. Dev Med Child Neurol 21 (3):333-43. Pubmed
3. Hemminki K, Li X, Johansson SE, Sundquist K, Sundquist J (2006) Familial risks for epilepsy among siblings based on hospitalizations in Sweden. Neuroepidemiology 27 (2):67-73. Crossref Pubmed
4. Tiwari VN, Sundaram SK, Chugani HT, Huq AH (2013) Infantile spasms are associated with abnormal copy number variations. J Child Neurol 28 (10):1191-6. Crossref Pubmed
5. Chugani HT, Shields WD, Shewmon DA, Olson DM, Phelps ME, Peacock WJ (1990) Infantile spasms: I. PET identifies focal cortical dysgenesis in cryptogenic cases for surgical treatment. Ann Neurol 27 (4):406-13. Crossref Pubmed
6. Chugani HT, Conti JR (1996) Etiologic classification of infantile spasms in 140 cases: role of positron emission tomography. J Child Neurol 11 (1):44-8. Pubmed
7. Parrini E, Mei D, Conti V, Sgado P, Marini C and Guerrini R: Cortical dysplasias of genetic origin, in Genetics of Epilepsy and Genetic Epilepsies, G. Avanzini and J. Noebels. John Libbey Eurotext; 2009;175-194.
8. Montenegro MA, Guerreiro MM, Lopes-Cendes I, Guerreiro CA, Li LM, Cendes F (2002) Association of family history of epilepsy with earlier age at seizure onset in patients with focal cortical dysplasia. Mayo Clin Proc 77 (12):1291-4. Crossref Pubmed
9. Chugani HT, Kumar A, Kupsky W, Asano E, Sood S, Juhász C (2011) Clinical and histopathologic correlates of 11C-alpha-methyl-L-tryptophan (AMT) PET abnormalities in children with intractable epilepsy. Epilepsia 52 (9):1692-8. Crossref Pubmed
10. Barkovich AJ, Kuzniecky RI, Dobyns WB, Jackson GD, Becker LE, Evrard P (1996) A classification scheme for malformations of cortical development. Neuropediatrics 27 (2):59-63. Crossref Pubmed
11. Leventer RJ, Guerrini R, Dobyns WB (2008) Malformations of cortical development and epilepsy. Dialogues Clin Neurosci 10 (1):47-62. Pubmed
12. Palmini A, Najm I, Avanzini G, Babb T, Guerrini R, Foldvary-Schaefer N et al. (2004) Terminology and classification of the cortical dysplasias. Neurology 62 (6 Suppl 3):S2-8. Pubmed
13. Paciorkowski AR, Thio LL, Rosenfeld JA, Gajecka M, Gurnett CA, Kulkarni S et al. (2011) Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function. Eur J Hum Genet 19 (12):1238-45. Crossref Pubmed
14. Vinters HV (2002) Histopathology of brain tissue from patients with infantile spasms. Int Rev Neurobiol 49 ():63-76. Pubmed
15. Sun Y, Vestergaard M, Christensen J, Nahmias AJ, Olsen J (2008) Prenatal exposure to maternal infections and epilepsy in childhood: a population-based cohort study. Pediatrics 121 (5):e1100-7. Crossref Pubmed
16. Do CB, Hinds DA, Francke U, Eriksson N (2012) Comparison of family history and SNPs for predicting risk of complex disease. PLoS Genet 8 (10):e1002973. Crossref Pubmed