LİZENSEFALİ VE OTİZM: OLGU SUNUMU

Year 2005, Volume: 36 Issue: 1, 49 - 54, 17.07.2014

Gülçin Benbir Barış Korkmaz

Abstract

Lizensefali, intrauterin beyin gelişiminin migrasyon döneminde görülen en ağır sorunlarından biri olup, serebral hemisferlerde normal girus paterninin kaybı, serebral kortikal mimarinin dizorganizasyonu, sıklıkla eşlik eden ağır nörolojik defisit ve nöbetlerle şekillenen ağır gelişimsel beyin anomalisidir. Etkilenen kişilerde çoğunlukla ağır mental rötardasyon ve dirençli epilepsi nöbetleri görülür. Nöronal migrasyon anomalileri otizm de dahil olmak üzere çeşitli düzeylerde bilişsel etkilenmenin etiyolojik ayırıcı tanısında önemli bir yer tutmaktadır. Bu yazıda, epilepsi, motor-mental rötardasyon ve otistik bozukluk şikayetleri ile başvuran izole yaygın lizensefali olgusu sunulmaktadır.

Keywords

Otizm, lizensefali

References

• 1. Jellinger K, Rett A. Agyria-pachygyria (lissencephaly syndrome). Neuropadiatrie 1976; 7: 66-91.
• 2. Guerrini R, Sicca F, Parmeggiani L. Epilepsy and malformations of the cerebral cortex. Epileptic Disord 2003; 5: 9-26.
• 3. Hong SE, Shugart YY, Huang DT, Shahwan SA, Grant PE, Hourihane JO, Martin ND, Walsh CA. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet 2000; 26: 93–96.
• 4. Panda S, Tripathi M, Jain S, Sharma P. X-linked lissencephaly in an Indian family. Neurol India 2003; 51: 392-393.
• 5. Dobyns WB, Truwit CL. Lissencephaly and other malformations of cortical development: 1995 update. Neuropediatrics 1995; 26: 132-47.
• 6. Barth PG. Disorders of neuronal migration. Can J Neurol Sci 1987; 14: 1-16.
• 7. Dobyns WB, Truwit CL. Lissencephaly and other malformations of cortical development: 1995 update. Neuropaediatrics 1995; 26: 132-47.
• 8. Dobyns WB, Reimer O, Carazzo R, et al. Lissencephaly: A human brain malformation associated with deletion of the L1S1 gene located at chromosome 17p13. J Am Med Asso 1993; 270: 2838-2842.
• 9. Minshew NJ, Luna B, Sweeney JA. Oculomotor evidence for neocortical systems but not cerebellar dysfunction in autism. Neurology 1999; 52: 917-22.
• 10. Luna B, Minshew NJ, Garver KE, Lazar NA, Thulbom KR, Eddy WF, Sweeney JA. Neocortical system abnormalities in autism: An fMRI study of spatial working memory. Neurology 2002; 59: 834-40.
• 11. Bailey A, Luthert P, Dean A, et al. A clinicopathological study of autism. Brain 1998; 121: 889-905. 12. Rodier PM. The early origins of autism. Sci Am 2000; 282: 56-63.
• 13. Köroğlu E. DSM-IV-TR Tanı Ölçütleri Başvuru El Kitabı [Diagnostic and Statistical Manual of Mental Disorders]. Fourth Edition. Ankara, Hekimler Yayın Birliği, 2001; 50-52.
• 14. Barkovich AJ, Gressens P, Evrard P. Formation, maturation and disorders of brain neocortex. AJNR Am J Neuroradiol 1992; 13: 423-46.
• 15. Osborn A. Three first stage complications. Midwifery Today Childbirth Educ 1994; 31: 36-7.
• 16. Fenichel GM. Clinical Pediatric Neurology. 3rd edition. London, W.B. Saunders, 1997.
• 17. Strömland K, Nordin V, Miller M, Akerstom B, Gillberg C. Autism in thalidomide embryopathy. Dev Med Child Neurol 1994; 36: 351-6.
• 18. Galaburda AM. Neuroanatomic basis of developmental dyslexia. Neurological Clinics of North America 1993; 11: 161-175.
• 19. Sisodiya SM, Squier MV, Anslow P. Malformation of cortical development. Intractable focal epilepsy: Medical and surgical treatment. Ed. J. Oxbury, C. Polkey, M. Duchowny. London, W.B. Saunders, 2000; 99-130.
• 20. Acosta MT, Pearl PL. The neurobiology of autism: New pieces of the puzzle. Curr Neurol Neurosci Rep 2003; 3: 149-56. 21. Fatemi SH, Stary JM, Egan EA. Reduced blood levels of reelin as a vulnerability factor in pathophysiology of autistic disorder. Cell Mol Neurobiol 2002; 22: 139-52.
• 22. Caksen H, Tuncer O, Kirimi E, Fryns JP, Uner A, Unal O, Cinal A, Odabas D. Report of two Turkish infants with Norman-Roberts syndrome. Genet Couns 2004; 15: 9-17.
• 23. Pavone L, Gullotta F, Incorpora G, Grasso S, Dobyns WB. Isolated lissencephaly: Report of four patients from two unrelated families. J Child Neurol 1990; 5: 52-9. 24. Barkovich AJ, Gressens P, Evrard P. Formation, maturation, and disorders of brain neocortex. AJNR Am J Neuroradiol 1992; 13: 423-46.
• 25. Casanova MF, Buxhoeveden DP, Switala AE, Roy E. Minicolumnar pathology in autism. Neurology 2002; 12; 58: 428-32.
• 26. Herbert MR, Harris GJ, Adrien KT, Ziegler DA, Makris N, Kennedy DN, Lange NT, Chabris CF, Bakardjiev A, Hodgson J, Takeoka M, Tager-Flusberg H, Caviness VS Jr. Abnormal asymmetry in language association cortex in autism. Ann Neurol 2002; 52: 588-96.
• 27. Tsatsanis KD, Rourke BP, Klin A, Volkmar FR, Cicchetti D, Schultz RT. Reduced thalamic volume in highfunctioning individuals with autism. Biol Psychiatry 2003; 53: 121-9.
• 28. Herbert MR, Ziegler DA, Deutsch CK, O’Brien LM, Lange N, Bakardjiev A, Hodgson J, Adrien KT, Steele S, Makris N, Kennedy D, Harris GJ, Caviness VS Jr. Dissociations of cerebral cortex, subcortical and cerebral whjite matter volumes in autistic boys. Brain 2003; 126: 1182-1192.
• 29. Leinhart JE, Piven J, Coon H, Folstein SE. Macrocephaly in children and adults with autism. J Am Acad Child Adolesc Psychiatry 1997; 36: 282-90.
• 30. Aylward EH, Minshew NJ, Field K, Sparks BF, Singh N. Effects of age on brain volume and head circumference in autism. Neurology 2002; 59: 175-83.
• 31. Bauman ML, Kemper TL. Histoanatomic observations of the brain in early infantile autism. Neurology 1985; 35: 866-874.
• 32. Bauman ML. Autism: Clinical features and neurobiological observatios. In: Neurodevelopmental Disorders. Ed. Flusberg HT. MIT Press, Cambridge, Massachusetts 1999; 383-399.
• 33. Kemper TL, Bauman ML. Neuropathology of infantile autism. Molecular Psychiatry 2002; 7: 12-13.
• 34. Courchesne E. Brainstem, cerebellar and limbic neuroanatomical abnormalities in autism. Curr Opin Neurobiol 1997; 7: 269-278.
• 35. Hashimoto T, Tayama M, Murakawa K, Yoshimoto T, Miyazaki M, Harada M, Kuroda Y. Development of the brainstem and cerebellum in autistic patients. J Autism Dev Disord 1995; 25: 1-18.