Malformations of cortical development and epilepsy: Clinical, EEG and neuroimaging findings in children

Year 2014, , 457 - 462, 01.09.2014

Ayşe Kartal Kürşad Aydın

https://doi.org/10.5798/diclemedj.0921.2014.03.0454

Abstract

Objective: of this study was to evaluate the relationship between clinical and treatment features of malformations of cortical development (MCD) in children Methods: We performed a comprehensive analysis of EEG features, treatment, clinical and neuroimaging findings in 40 consecutive patients. Results: We are reporting a series of 40 cases with cortical malformation and epilepsy. The ages of our patients at the time of evaluation varied between 4 month and 17 years with a mean of 5.4 years. 57.5% were male and 12.2% of the cases had a family history of epilepsy or other neurological disease, and 15% had gestational or a perinatal insult. Delayed motor and mental milestones were observed in 70%. All type of seizures were reported, but generalized seizures was the most common (18/40, 45%). Patients were on either a single antiepiletic drug (13/40, 32.5 %) or multiple drugs (27/40, 67.5%). Complete seizure control was achieved in 19/40 patients (45.5%), partial control in 7/40 (17.5%) patients, and no control in 14/40 (35%). Lissencephaly, schizencephaly and polymicrogyria were seen as the most common neuroimaging findings in our study. Epilepsy was controlled in most patients with schizencepahly and polymicrogyria. In contrast, seizures were not controlled in patients with lissencephaly and hemimegalencephaly. Conclusion: Malformations of cortical development are responsible for a wide spectrum of clinical manifestations that include develomental delay, mental retardation and medically refractory epilepsy.

Keywords

Epilepsy, malformations of cortical development, MRI, EEG

Kortikal gelişim bozukluğu ve epilepsi: Çocuklarda klinik, EEG ve nörogörüntüleme bulguları

Abstract

Amaç: Bu çalışmada kortikal gelişim bozukluğu olan çocuklarda klinik özellikler ve tedavi bulguları arasındaki ilişkinin değerlendirilmesi amaçlanmıştır. Yöntemler: Kortikal gelişim bozukluğuna sahip 40 hastanın EEG bulguları, tedavi, klinik ve nörogörüntüleme bulguları detaylı bir şekilde değerlendirilmiştir. Bulgular: Olguların değerlendirilme anındaki yaşları 4-17 yaş aralığında ve ortalama yaşları 5,4 yıldı. %57,5\'i erkek, %12,2\'sinde epilepsi ve diğer nörolojik hastalık açısından pozitif aile öyküsü, %15\'inde ise gebelik ya da doğum sonrası döneme ait travma öyküsü vardı. Olguların %70\'inde nöromotor gelişim basamaklarında gerilik tespit edildi. Her tür nöbet tipi görülmesine karşın en sık gözlenen nöbet tipi jeneralize nöbetlerdi (%45). Olguların %32,5\'i tek antiepileptik ilaç alırken, %67,5\'i çoklu antiepileptik ilaç kullanmaktaydı. Tam nöbet kontrolü olguların %45,5\'inde sağlanırken, %17,5\'inde kısmi kontrol sağlanmıştı. Olguların %35\'inde ise nöbet kontrolü sağlanamamıştı. Serimizde lizensefali, şizensefali ve polimikrogiri en sık görülen kortikal gelişim bozukluklarıydı. Şizensefali ve polimikrogirisi olan olgularda epilepsi kontrolü sağlanırken lizensefali ve hemimegalensefalili olgularda nöbet kontrolü sağlanamamıştı. Sonuç: Kortikal gelişim bozukluğu gelişme geriliği, zeka geriliği ve medikal tedaviye dirençli epilepsi gibi geniş bir klinik yelpazeden sorumludur.

Keywords

Epilepsi, kortikal gelişim bozukluğu, MRİ, EEG

References

• Tassi L, Colombo N, Garbelli R, et al. Focal cortical dyspla- sia: neuropathological subtypes, EEG, neuroimaging and surgical outcome. Brain 2002;125:1719-1732.
• Leventer RJ, Jansen A, Pilz DT, et al. Clinical and imaging heterogeneity ofpolymicrogyria: a study of 328 patients. Brain 2010;133:1415-1427.
• Krsek P, Maton B, Korman B, et al. Different features of- histopathological subtypes of pediatric focal cortical dys- plasla. Ann Neurol 2008;63:758-769.
• Fauser S, Huppertz HJ, Bast T, et al. Clinical characteristics in focal cortical dysplasia: a retrospective evaluation in a series of 120 patients. Brain 2006;129:1907-1916.
• Guerrini R, Holthausen H, Parmeggiani L, et al. Epilepsy and malformations of cerebral cortex. Epileptic syndromes in infancy, childhood and adolescence. London: John Libbey and Co Ltd.; 2002.p.457-479.
• Sisodiya SM. Malformation of cortical development: bur- dens and insights from important causes of human epilepsy. Lancet Neurol 2004;3:29-38.
• Mischel PS, Nguyen LP, Vinters HV. Cerebral cortical dys- plasia associated with pediatric epilepsy. Review of neu- ropathologic features and proposal for a grading system. J Neuropathol Experimental Neurol 1995;54:137-153.
• Brodtkorb E, Nilsen G, Smevik O, et al. Epilepsy and anoma- lies of neuronal migration: MRI and clinical aspects. Acta Neurol Scand 1992;86:24-32.
• Li LM, Fish DR, Sisodiya SM, et al. High resolution mag- netic resonance imaging in adults with partial or second- ary generalized epilepsy attending a tertiary referral unit. J Neurol Neurosurg Psychiatry 1995;59:384-387.
• Dobyns WB, Elias ER, Newlin MS, et al. Causal heteroge- neity in isolated lissencephaly. Neurology 1992;42:1375- 1388.
• Kurul S, Cakmakçi H, Dirik E. Agyria-pachygyria complex: MR findings and correlation with clinical features. Pediatr Neurol 2004;30:16-23.
• Bittles AH. Consanguineous marriage and childhood health. Dev Med Child Neurol 2003;45:571-576.
• Raymond AA, Fish DR, Sisodiya SM, et al. Abnormalities of gyration, heterotopias, tuberous sclerosis, focal cortical dysplasia, microdysgenesis, dysembryoplastic neuroepi- thelial tumor and dysgenesis of the archicortex in epilepsy: clinical, EEG and neuroimaging features in 100 adult pa- tients. Brain 1995;118:620-660.
• Montenegro MA, Cendes F, Lopes-Cendes I, et al. The clin- ical spectrum of malformations of cortical development. Arq Neuropsiquiatr 2007;65(2A):196-201.
• Mathew T, Srikanth SG, Satishchandra P. Malformations of cortical development (MCDs) and epilepsy: experi- ence from a tertiary care center in south India. Seizure 2010;19:147-152.
• Leventer RJ, Phelan EM, Coleman LT, et al. Clinical and imaging features of cortical malformations in childhood. Neurology 1999 Sep 11;53:715-722.
• Kovac S, Micallef C, Diehl B, et al. Mystery Case: Bilateral posterior periventricular heterotopias. Neurology 2013 Nov 26;81:e163-4
• Guerrini R. Genetic malformations of the cerebral cortex and epilepsy. Epilepsia 2005;46 (Suppl):32-37.
• Kuzniecky RI, Garcia J, Faught E. Cortical dysplasia in temporal lobe epilepsy: magnetic resonance imaging cor- relations. Ann Neurol 1991;29:293-298.
• Güngör S, Yalnizoğlu D, Turanli G, et al. Malformations of cortical development: clinical spectrum in a series of 101 patients and review of the literature (Part II). Turk J Pediatr 2007;49:131-140.
• Koehn MA, Duchowny M. Preoperative clinical evaluation and noninvasive electroencephalogram in cortical dyspla- sia. Neurosurg Clin N Am 2002;37:35-39.
• Kuzniecky RI. Magnetic resonance imaging in developmen- tal disorders of the cerebral cortex. Epilepsia 1994;35(suppl 6):S44 -S56.
• Pascual Castroviejo I, Pascual Pascual SI, Via o J, et al. Malformations of cortical development and their clini- cal repercussions in a series of 144 cases. Rev Neurol 2003;37:327-344.