Palliative epilepsy surgery in Aicardi syndrome: A case series and review of literature

Child's Nervous System

Volumn 30, Issue 3, 2014, Pages 497-503

  Kasasbeh, Aimen S ^a   Gurnett, Christina A ^b   Smyth, Matthew D ^c  

^a MAYO CLINIC   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c ST LOUIS CHILDREN S HOSPITAL   (United States)

Author keywords

Aicardi syndrome; Corpus callosotomy; Epilepsy surgery; Vagus nerve stimulation

Indexed keywords

CARBAMAZEPINE; CLOBAZAM; CLONAZEPAM; CORTICOTROPIN; DIAZEPAM; ETIRACETAM; FELBAMATE; GABAPENTIN; LAMOTRIGINE; PHENOBARBITAL; PRIMIDONE; RUFINAMIDE; TOPIRAMATE; VALPROATE SEMISODIUM; VALPROIC ACID; VIGABATRIN; ZONISAMIDE;

AICARDI SYNDROME; ARACHNOID CYST; ARTICLE; CASE REPORT; CHILD; COMMUNICATION SKILL; COMPLEX PARTIAL SEIZURE; CORPUS CALLOSOTOMY; CORPUS CALLOSUM; CORPUS CALLOSUM AGENESIS; DROP ATTACK; ELECTROENCEPHALOGRAM; EPILEPSY; EPILEPTIC DISCHARGE; FACE INJURY; FEMALE; FOCAL EPILEPSY; FOLLOW UP; HUMAN; IMPLANTED VAGUS NERVE STIMULATOR; INFANT; INFANTILE SPASM; INTRACTABLE EPILEPSY; KETOGENIC DIET; LACERATION; LIMITED MOBILITY; MICROFRACTURE; MICROGYRIA; MYOCLONUS SEIZURE; NEUROSURGERY; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOLOGY; OUTCOME ASSESSMENT; PALLIATIVE THERAPY; PINEAL BODY; PRIORITY JOURNAL; QUALITY OF LIFE; SCHIZENCEPHALY; SCHOOL CHILD; SIMPLE PARTIAL SEIZURE; SLEEP; TONIC CLONIC SEIZURE; TONIC SEIZURE; VAGUS NERVE STIMULATION; WALKING DIFFICULTY; WHEELCHAIR;

AGENESIS OF CORPUS CALLOSUM; AICARDI SYNDROME; CHILD; CHILD, PRESCHOOL; CORPUS CALLOSUM; DRUG RESISTANCE; ELECTROENCEPHALOGRAPHY; EPILEPSY; EYE; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; NEUROLOGIC EXAMINATION; NEUROSURGICAL PROCEDURES; OPTIC NERVE; PALLIATIVE CARE; QUALITY OF LIFE; SEIZURES; SPASMS, INFANTILE; TREATMENT OUTCOME; VAGUS NERVE STIMULATION;

EID: 84903366346     PISSN: 02567040     EISSN: 14330350     Source Type: Journal    
DOI: 10.1007/s00381-013-2259-5     Document Type: Article

References (48)

1. Aicardi J (1999) Aicardi syndrome: old and new findings. Int Pediatr 14:5-9
2. Aicardi J, Chevrie JJ, Rousselie F (1969) Le syndrome spasmes en flexion agenesie calleuse, anomalies chorioretiniennes. Arch Fr Pediatr 26:1103-1120
3. Aicardi J, Lefebvre J, Lerique-Koechlin A (1965) A new syndrome: spasms in flexion, callosal, agenesis, ocular abnormalities. Electroencephalogr Clin Neurophysiol 19:609-610
4. Barkovich AJ, Simon EM, Walsh CA (2001) Callosal agenesis with cyst: a better understanding and new classification. Neurology 56:220-227 (Pubitemid 32095364)
5. Billette DV, Chiron C, Robain O (1992) Unlayered polymicrogyria and agenesis of the corpus callosum: a relevant association? Acta Neuropathol 83:265-270
6. Cabrera MT, Winn BJ, Porco T, Strominger Z, Barkovich AJ, Hoyt CS, Wakahiro M, Sherr EH (2011) Laterality of brain and ocular lesions in Aicardi syndrome. Pediatr Neurol 45:149-154
7. Chen TH, Chao MC, Lin LC, Jong YJ, Yang SN, Lai YH, Chen HL (2009) Aicardi syndrome in a 47, XXY male neonate with lissencephaly and holoprosencephaly. J Neurol Sci 278:138-140
8. Chevrie JJ, Aicardi J (1986) The Aicardi syndrome. In: Pedley TA, Meldrum BS (eds) Recent advances in epilepsy. Churchill Livingstone, Edinburgh, pp 189-210
9. de Jong JG, Delleman JW, Houben M, Manschot WA, De MA, Mol J, Slooff JL (1976) Agenesis of the corpus callosum, infantile spasms, ocular anomalies (Aicardi's syndrome). Clinical and pathologic findings. Neurology 26:1152-1158 (Pubitemid 8007954)
10. Del Pero RA, Mets MB, Tripathi RC, Torczynski E (1986) Anomalies of retinal architecture in Aicardi syndrome. Arch Ophthalmol 104:1659-1664 (Pubitemid 17174534)
11. Donnenfeld AE, Packer RJ, Zackai EH, Chee CM, Sellinger B, Emanuel BS (1989) Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome. Am J Med Genet 32:461-467 (Pubitemid 19171897)
12. Erenberg G (1983) Aicardi's syndrome: report of an autopsied case and review of the literature. Cleve Clin Q 50:341-345
13. Ferrer I, Cusi MV, Liarte A, Campistol J (1986) A Golgi study of the polymicrogyric cortex in Aicardi syndrome. Brain Dev 8:518-525 (Pubitemid 17204004)
14. Glasmacher MA, Sutton VR, Hopkins B, Eble T, Lewis RA, Park PD, Van den Veyver IB (2007) Phenotype and management of Aicardi syndrome: new findings froma survey of 69 children. J Child Neurol 22:176-184 (Pubitemid 46860416)
15. Grosso S, Lasorella G, Russo A, Galluzzi P, Morgese G, Balestri P (2007) Aicardi syndrome with favorable outcome: case report and review. Brain Dev 29:443-446 (Pubitemid 46755529)
16. Hall-Craggs MA, Harbord MG, Finn JP, Brett E, Kendall BE (1990) Aicardi syndrome: MR assessment of brain structure and myelination. AJNR Am J Neuroradiol 11:532-536 (Pubitemid 20232833)
17. Hamano S, Yagishita S, Kawakami M, Ito F, Maekawa K (1989) Aicardi syndrome: postmortem findings. Pediatr Neurol 5:259-261 (Pubitemid 19214056)
18. Hopkins IJ (1996) Aicardi syndrome with normal developmental process, remission of epilepsy and bilateral intraventricular tumors. In: Arzimanoglou A, Goutieres F (eds) Trends in child neurology. John Libbey Eurotext, Montrouge, pp 77-80
19. Hopkins B, Sutton VR, Lewis RA, Van den Veyver I, Clark G (2008) Neuroimaging aspects of Aicardi syndrome. Am J Med Genet A 146:2871-2878
20. Hopkins IJ, Humphrey I, Keith CG, Susman M, Webb GC, Turner EK (1979) The Aicardi syndrome in a 47, XXYmale. Aust Paediatr J 15:278-280
21. Igidbashian V, Mahboubi S, Zimmerman RA (1987) CT and MR findings in Aicardi syndrome. J Comput Assist Tomogr 11:357-358 (Pubitemid 17038172)
22. Katz RT (2003) Life expectancy for children with cerebral palsy and mental retardation: implications for life care planning. Neuro Rehabil 18:261-270
23. Kroner BL, Preiss LR, Ardini MA, Gaillard WD (2008) New incidence, prevalence, and survival of Aicardi syndrome from 408 cases. J Child Neurol 23:531-535 (Pubitemid 351566866)
24. Matlary A, Prescott T, Tvedt B, Lindberg K, Server A, Aicardi J, Stromme P (2004) Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG. Clin Dysmorphol 13:257-260 (Pubitemid 40674503)
25. McMahon RG, Bell RA, Moore GR, Ludwin SK (1984) Aicardi's syndrome. A clinicopathologic study. Arch Ophthalmol 102:250-253 (Pubitemid 14184163)
26. Menezes AV, Enzenauer RW, Buncic JR (1994) Aicardi syndrome - the elusive mild case. Br J Ophthalmol 78:494-496 (Pubitemid 24186296)
27. Menezes AV, MacGregor DL, Buncic JR (1994) Aicardi syndrome: natural history and possible predictors of severity. Pediatr Neurol 11:313-318
28. Mohammed HS, Kaufman CB, Limbrick DD, Steger-May K, Grubb RL Jr, Rothman SM, Weisenberg JL, Munro R, Smyth MD (2012) Impact of epilepsy surgery on seizure control and quality of life: a 26-year follow-up study. Epilepsia 53:712-720
29. Nashef L, Fish DR, Garner S, Sander JW, Shorvon SD (1995) Sudden death in epilepsy: a study of incidence in a young cohort with epilepsy and learning difficulty. Epilepsia 36:1187-1194
30. Neidich JA, NussbaumRL, Packer RJ, Emanuel BS, Puck JM (1990) Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome. J Pediatr 116:911-917 (Pubitemid 20201701)
31. Ohtsuka Y, Oka E, Terasaki T, Ohtahara S (1993) Aicardi syndrome: a longitudinal clinical and electroencephalographic study. Epilepsia 34:627-634 (Pubitemid 23228125)
32. Ozek E, Ozek MM, Caliskan M, Sav A, Apak S, Erzen C (1995) Multiple pineal cysts associated with an ependymal cyst presenting with infantile spasm. Childs Nerv Syst 11: 246-249
33. Palmer L, Zetterlund B, Hard AL, Steneryd K, Kyllerman M (2007) Aicardi syndrome: follow-up investigation of Swedish children born in 1975-2002. Neuropediatrics 38:188-192
34. Palmer L, Zetterlund B, Hard AL, Steneryd K, Kyllerman M (2006) Aicardi syndrome: presentation at onset in Swedish children born in 1975-2002. Neuropediatrics 37:154-158 (Pubitemid 44450286)
35. Prats Vinas JM, Martinez Gonzalez MJ, Garcia RA, Martinez GS, Martinez FR (2005) Callosal agenesis, chorioretinal lacunae, absence of infantile spasms, and normal development: Aicardi syndrome without epilepsy? Dev Med Child Neurol 47:419-420 (Pubitemid 40740502)
36. Robinow M, Johnson GF, Minella PA (1984) Aicardi syndrome, papilloma of the choroid plexus, cleft lip, and cleft of the posterior palate. J Pediatr 104:404-405 (Pubitemid 14160469)
37. Rosser TL, Acosta MT, Packer RJ (2002) Aicardi syndrome: spectrum of disease and long-term prognosis in 77 females. Pediatr Neurol 27:343-346 (Pubitemid 36034269)
38. Saito Y, Sugai K, Nakagawa E, Sakuma H, Komaki H, Sasaki M, Maegaki Y, Ohno K, Sato N, Kaneko Y, Otsuki T (2009) Treatment of epilepsy in severely disabled children with bilateral brain malformations. J Neurol Sci 277:37-49
39. Smith CD, Ryan SJ, Hoover SL, Baumann RJ (1996) Magnetic resonance imaging of the brain in Aicardi's syndrome. Report of 20 patients. J Neuroimaging 6:214-221 (Pubitemid 26371226)
40. Sutton VR, Hopkins BJ, Eble TN, Gambhir N, Lewis RA, Van den Veyver I (2005) Facial and physical features of Aicardi syndrome: infants to teenagers. Am J Med Genet A 138:254-258 (Pubitemid 41384242)
41. Taggard DA, Menezes AH (2000) Three choroid plexus papillomas in a patient with Aicardi syndrome. A case report. Pediatr Neurosurg 33:219-223 (Pubitemid 32008884)
42. Taylor M, David AS (1998) Agenesis of the corpus callosum: a United Kingdom series of 56 cases. J Neurol Neurosurg Psychiatry 64:131-134 (Pubitemid 28156553)
43. Uchiyama CM, Carey CM, Cherny WB, Brockmeyer DL, Falkner LD, Walker ML, Boyer RS (1997) Choroid plexus papilloma and cysts in the Aicardi syndrome: case reports. Pediatr Neurosurg 27:100-104 (Pubitemid 28099597)
44. Van den Veyver IB (2002) Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they related X-linked dominantmale-lethal disorders? Cytogenet Genome Res 99:289-296
45. Wettke-Schafer R, Kantner G (1983) X-linked dominant inherited diseases with lethality in hemizygous males. Hum Genet 64:1-23
46. Wieacker P, Zimmer J, Ropers HH (1985) X inactivation patterns in two syndromes with probable X-linked dominant, male lethal inheritance. Clin Genet 28:238-242 (Pubitemid 16244278)
47. Yilmaz S, Fontaine H, Brochet K, Gregoire MJ, Devignes MD, Schaff JL, Philippe C, Nemos C, McGregor JL, Jonveaux P (2007) Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGH. Eur J Med Genet 50:386-391 (Pubitemid 47430070)
48. Zubairi MS, Carter RF, Ronen GM (2009) A male phenotype with Aicardi syndrome. J Child Neurol 24:204-207