Skip to main content

Advertisement

SpringerLink
Log in

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

  • Original Paper
  • Published:
Child's Nervous System Aims and scope Submit manuscript

Abstract

Purpose

Aicardi syndrome (AS) is a severe neurodevelopmental disorder characterized by the triad of seizures, agenesis of corpus callosum, and chorioretinal lacunae. Seizures in AS are typically frequent, of various types, and refractory to medical therapy. Optimal treatment of seizures in AS remains undetermined.

Methods

We report a series of four patients with Aicardi syndrome who underwent surgical management of their epilepsy including two with corpus callosotomy (CC) of a partial corpus callosum and three with vagus nerve stimulator implantation.

Results

Seizure outcome was variable and ranged from near complete resolution of seizures to worsening of seizure profile. The most favorable seizure outcome was seen in a patient with partial agenesis of the corpus callosum treated with CC.

Conclusions

Seizure outcome following CC or vagus nerve stimulation in patients with Aicardi syndrome is variable. Although palliative epilepsy surgery may result in improvement in the seizure profile in some patients, studies on larger patient cohorts are needed to identify the precise role that surgery may play in the multidisciplinary approach to controlling seizures in Aicardi syndrome.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

Similar content being viewed by others

References

  1. Aicardi J (1999) Aicardi syndrome: old and new findings. Int Pediatr 14:5–9

    Google Scholar 

  2. Aicardi J, Chevrie JJ, Rousselie F (1969) Le syndrome spasmes en flexion agenesie calleuse, anomalies chorioretiniennes. Arch Fr Pediatr 26:1103–1120

    CAS  PubMed  Google Scholar 

  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

    Google Scholar 

  4. Barkovich AJ, Simon EM, Walsh CA (2001) Callosal agenesis with cyst: a better understanding and new classification. Neurology 56:220–227

    Article  CAS  PubMed  Google Scholar 

  5. Billette DV, Chiron C, Robain O (1992) Unlayered polymicrogyria and agenesis of the corpus callosum: a relevant association? Acta Neuropathol 83:265–270

    Article  Google Scholar 

  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

    Article  PubMed Central  PubMed  Google Scholar 

  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

    Article  CAS  PubMed  Google Scholar 

  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

    Google Scholar 

  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

    Article  PubMed  Google Scholar 

  10. Del Pero RA, Mets MB, Tripathi RC, Torczynski E (1986) Anomalies of retinal architecture in Aicardi syndrome. Arch Ophthalmol 104:1659–1664

    Article  PubMed  Google Scholar 

  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

    Article  CAS  PubMed  Google Scholar 

  12. Erenberg G (1983) Aicardi’s syndrome: report of an autopsied case and review of the literature. Cleve Clin Q 50:341–345

    Article  CAS  PubMed  Google Scholar 

  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

    Article  CAS  PubMed  Google Scholar 

  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 from a survey of 69 children. J Child Neurol 22:176–184

    Article  PubMed  Google Scholar 

  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

    Article  CAS  PubMed  Google Scholar 

  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

    CAS  PubMed  Google Scholar 

  17. Hamano S, Yagishita S, Kawakami M, Ito F, Maekawa K (1989) Aicardi syndrome: postmortem findings. Pediatr Neurol 5:259–261

    Article  CAS  PubMed  Google Scholar 

  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

    Google Scholar 

  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

    Article  Google Scholar 

  20. Hopkins IJ, Humphrey I, Keith CG, Susman M, Webb GC, Turner EK (1979) The Aicardi syndrome in a 47, XXY male. Aust Paediatr J 15:278–280

    CAS  PubMed  Google Scholar 

  21. Igidbashian V, Mahboubi S, Zimmerman RA (1987) CT and MR findings in Aicardi syndrome. J Comput Assist Tomogr 11:357–358

    Article  CAS  PubMed  Google Scholar 

  22. Katz RT (2003) Life expectancy for children with cerebral palsy and mental retardation: implications for life care planning. Neuro Rehabil 18:261–270

    Google Scholar 

  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

    Article  PubMed  Google Scholar 

  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

    Article  PubMed  Google Scholar 

  25. McMahon RG, Bell RA, Moore GR, Ludwin SK (1984) Aicardi’s syndrome. A clinicopathologic study. Arch Ophthalmol 102:250–253

    Article  CAS  PubMed  Google Scholar 

  26. Menezes AV, Enzenauer RW, Buncic JR (1994) Aicardi syndrome— the elusive mild case. Br J Ophthalmol 78:494–496

    Google Scholar 

  27. Menezes AV, MacGregor DL, Buncic JR (1994) Aicardi syndrome: natural history and possible predictors of severity. Pediatr Neurol 11:313–318

    Article  CAS  PubMed  Google Scholar 

  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

    Article  PubMed  Google Scholar 

  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

    Article  CAS  PubMed  Google Scholar 

  30. Neidich JA, Nussbaum RL, Packer RJ, Emanuel BS, Puck JM (1990) Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome. J Pediatr 116:911–917

    Article  CAS  PubMed  Google Scholar 

  31. Ohtsuka Y, Oka E, Terasaki T, Ohtahara S (1993) Aicardi syndrome: a longitudinal clinical and electroencephalographic study. Epilepsia 34:627–634

    Article  CAS  PubMed  Google Scholar 

  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

    Article  CAS  PubMed  Google Scholar 

  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

    Article  CAS  PubMed  Google Scholar 

  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

    Article  CAS  PubMed  Google Scholar 

  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

    Article  PubMed  Google Scholar 

  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

    Article  CAS  PubMed  Google Scholar 

  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

    Article  PubMed  Google Scholar 

  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

    Article  PubMed  Google Scholar 

  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

    CAS  PubMed  Google Scholar 

  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

    Article  Google Scholar 

  41. Taggard DA, Menezes AH (2000) Three choroid plexus papillomas in a patient with Aicardi syndrome. A case report. Pediatr Neurosurg 33:219–223

    Article  CAS  PubMed  Google Scholar 

  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

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  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

    Article  CAS  PubMed  Google Scholar 

  44. Van den Veyver IB (2002) Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they related X-linked dominant male-lethal disorders? Cytogenet Genome Res 99:289–296

    Article  PubMed  Google Scholar 

  45. Wettke-Schafer R, Kantner G (1983) X-linked dominant inherited diseases with lethality in hemizygous males. Hum Genet 64:1–23

    Article  CAS  PubMed  Google Scholar 

  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

    Article  CAS  PubMed  Google Scholar 

  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

    Article  PubMed  Google Scholar 

  48. Zubairi MS, Carter RF, Ronen GM (2009) A male phenotype with Aicardi syndrome. J Child Neurol 24:204–207

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Neural Engineering Laboratory, Mayo Clinic, 200 First Street SW, Rochester, MN, 55902, USA

    Aimen S. Kasasbeh

  2. Division of Pediatric Neurology, Department of Neurology, Saint Louis Children’s Hospital, Washington University in St. Louis, St. Louis, MO, USA

    Christina A. Gurnett

  3. Department of Neurological Surgery, Saint Louis Children’s Hospital, Washington University in St. Louis, St. Louis, MO, USA

    Matthew D. Smyth

Authors
  1. Aimen S. Kasasbeh
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Christina A. Gurnett
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Matthew D. Smyth
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Aimen S. Kasasbeh.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Kasasbeh, A.S., Gurnett, C.A. & Smyth, M.D. Palliative epilepsy surgery in Aicardi syndrome: a case series and review of literature. Childs Nerv Syst 30, 497–503 (2014). https://doi.org/10.1007/s00381-013-2259-5

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00381-013-2259-5

Keywords

Search

Navigation