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Agenesis of corpus callosum: prenatal diagnosis and prognosis

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Abstract

Introduction

Agenesis of corpus callosum (ACC) is commonly diagnosed prenatally. When isolated, it appears to carry a good prognosis but studies are often retrospective and follow-up short. We report a prospective study of 17 children (11 boys, 6 girls) with prenatally diagnosed isolated ACC.

Methods

Neuropsychological evaluation was performed each year and results at the ages of 2, 4, and 6 years were compared.

Results

Febrile seizures occurred in 3 patients. Median intellectual quotient (IQ) was within the normal range (80–109) and nonrelated to partial or complete ACC, sex, or febrile seizures. Lower median IQ was significantly related to low cultural status. With age, the number of children with IQ in the lower range (80–89) increased and slowness, attentional troubles, and instability appeared.

Conclusion

This study demonstrates that if outcome of isolated ACC is favorable, a long follow-up is necessary: with age, IQ in the lower range and behavioral troubles are linked to difficulties in school.

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References

  1. Bamforth F, Bamforth S, Poskitt K, Applegarth D, Hall J (1988) Abnormalities of corpus callosum in patients with inherited metabolic diseases. Lancet 2:451

    CAS  Google Scholar 

  2. Battistella PA (1993) Occurrence of Andermann syndrome out of French Canada—agenesis of the corpus callosum with neuronopathy. Neuropediatrics 24:107–110

    PubMed  Google Scholar 

  3. Berry-Kravis E, Israel J (1994) X-linked pachygyria and agenesis of the corpus callosum: evidence for an X-chromosome lissencephaly locus. Ann Neurol 36:229–233

    Google Scholar 

  4. Blum A, André M, Droulle P, Husson S, Leheup B (1990) Prenatal diagnosis of the corpus callosum agenesis. The Nancy experience, 1982–1989. Genet Couns 38:115–126

    Google Scholar 

  5. Brown GK, Brown RM, Scholem RD, Kirby DM, Dahl HH (1989) The clinical and biochemical spectrum of human pyruvate deshydrogenase complex deficiency. Annals NY Acad Sci 573:360–368

    CAS  Google Scholar 

  6. Brunet O, Lézine I (1977) Echelle de développement psychomoteur de la première enfance. Etablissements d'applications psychotechniques (EAP)

  7. Casaubon LK, Melanson M, Lopes-Cendes I, Marineau C, Andermann E, Andermann F, Weissenbach J, Prevost C, Bouchard JP, Mathieu J, Rouleau GA (1996) The gene responsible for a severe form of peripheral neuropathy and agenesis of corpus callosum maps to chromosome 15q. Am J Hum Genet 58:28–34

    CAS  PubMed  Google Scholar 

  8. Chacko A, Koul R, Sankhla DK (2001) Corpus callosum agenesis. Saudi Med J 22:22–25

    CAS  PubMed  Google Scholar 

  9. De Agostini M, Dellatolas G (1988) Une épreuve simple pour évaluer la préférence manuelle chez l'enfant de 3 ans. Enfance 41:139–147

    Google Scholar 

  10. D'Ercole C, Girard N, Cravello L, Boubli L, Potier A, Raybaud C, Blanc B (1998) Prenatal diagnostics of fetal corpus callosum agenesis by ultrasonography and magnetic resonance imaging. Prenat Diagn 18:247–253

    Article  CAS  PubMed  Google Scholar 

  11. Diebler K, Dulac O (1987) Malformations of the corpus callosum in pediatric neurology and neuroradiology. Springer, Berlin Heidelberg New York, pp 1–4

  12. Dobyns WB (1996) Absence makes the search much longer. Am J Hum Genet 58:7–16

    CAS  PubMed  Google Scholar 

  13. Doffe L, Adamsbaum C, Rolland Y, Robain O, Ponsot G, Kalifa G (1996) Agénésie du corps calleux et kyste inter hémisphérique paramédian. J Radiol 77:427–43

    CAS  PubMed  Google Scholar 

  14. Dominguez R, Aguirre Vila-Coro A, Slopis JM, Bohan TP (1991) Brain and ocular abnormalities in infants with in utero exposure to cocaine and other street drugs. Am J Dis Child 145:688–695

    CAS  PubMed  Google Scholar 

  15. Fischer M, Ryan SB, Dobyns WB (1992) Mechanisms of hemispheric transfer and patterns of cognitive functions in acallosal patients of normal intelligence. Arch Neurol 49:271–277

    CAS  PubMed  Google Scholar 

  16. Gelot A, Esperandieu O, Pompidou A (1998) Histogénèse du corps calleux. Neurochirurgie 44 [Suppl 1]:61–73

    Google Scholar 

  17. Goodyear PW, Bannister CM, Russell S, Rimmer S (2001) Outcome in prenatally diagnosed fetal agenesis of corpus callosum. Fetal Diagn Ther 16:139–145

    Article  CAS  PubMed  Google Scholar 

  18. Gupta JK, Lilford RJ (1995) Assessment and management of fetal agenesis of the corpus callosum. Prenatal Diagn 15:301–312

    CAS  PubMed  Google Scholar 

  19. Hirayama K, Hoshino Y, Kumashiro H, Yamamoto T (1994) Reverse Shapiro's syndrome: a case of agenesis of the corpus callosum associated with periodic hyperthermia. Arch Neurol 51:494–496

    CAS  PubMed  Google Scholar 

  20. Jacobson LS, Servos P, Goodale MA, Lassonde M (1994) Control of proximal and distal components of prehension in callosal agenesis. Brain 117:1107–1113

    PubMed  Google Scholar 

  21. Jeret JS, Serur D, Wiesniewski KE, Lubin RA (1987) Clinicopathological findings associated with agenesis of the corpus callosum. Brain Dev 9:255–264

    PubMed  Google Scholar 

  22. Kaufmann AS, Kaufmann NL (1983) Batterie pour l'examen psychologique de l'enfant. American guidance service (version française 1993 par ECPA)

  23. Lair-Milan F, Gelot A, Baron JM, Lewin F, André C, Adamsbaum C (1997) IRM encéphalique antenatale. Etude rétrospective à propos de 34 examens. J Radiol 78:499–505

    CAS  Google Scholar 

  24. Lemesle M, Giroud M, Madinier G, Martin D, Baudouin N, Binnert D, Dumas R (1997) Agénésie du corps calleux: les modes de révélation chez l'adulte. Rev Neurol (Paris) 153:256–261

    Google Scholar 

  25. Lindhout D, Omtzigt JG, Cornel MC (1992) Spectrum of neural tube defects in 34 infants prenatally exposed to antiepileptic drugs. Neurology 42:11–18

    PubMed  Google Scholar 

  26. Malinger G, Lev D, Lerman-Sagie T (2002) Is fetal magnetic resonance imaging superior to sonography for detection of brain anomalies? Ultrasound Obstet Gynecol 20:317–321

    Google Scholar 

  27. Philip N, Chabrol B, Lethel V (1998) Génétique de l'agénésie du corps calleux. Neurochirurgie 44 [Suppl 1]:99–101

    Google Scholar 

  28. Pilu G, Sandri F, Perolo A, Pittalis MC, Grisolia G, Cocchi G, Foschini MP, Salvioli GP, Bovicelli L (1993) Sonography of fetal agenesis of the corpus callosum: a survey of 35 cases. Ultrasound Obstet Gynecol 3:318–329

    Article  CAS  PubMed  Google Scholar 

  29. Shevell MI, Matthews PM, Scriver CR, Brown RM, Otero LJ, Legris M, Brown GK, Arnold DL (1994) Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate deshydrogenase deficiency. Pediatr Neurol 11:224–229

    Article  CAS  PubMed  Google Scholar 

  30. Tiffin J (1961) Examiner manual for the Purdue Pegboard. Purdue research foundation (French version by ECPA 1961)

  31. Vergani P, Ghidini A, Strobelt N, Locatelli A, Mariani S, Bertalero C, Cavallone M (1994) Prognostic indicators in the prenatal diagnosis of agenesis of the corpus callosum. Am J Obstet Gynecol 170:753–758

    CAS  PubMed  Google Scholar 

  32. Wechsler D (1989) Manual for the Wechsler preschool and primary scale of intelligence revised. The psychological corporation (French version 1995 by ECPA)

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Acknowledgements

Thanks are due to Drs. R. Arkwright, M.C. Aubry, F. Audibert, R. Bessis, J. De Laveaucoupet, M. Daumail, G. Hatem, F. Jacquemard, P. Plouin, D. Rodriguez, P. Sonigo, L. Vallée, Y. Ville, F. Wallois, and the "Groupe de Neurologie Foetale" for their contribution to and their help with this study.

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Authors and Affiliations

  1. Services de Neuropédiatrie, Obstétrique, Radiologie, Hôpital Saint Vincent de Paul, 82 Avenue Denfert Rochereau, 75674, Paris Cedex 14, France

    Marie-Laure Moutard, Virginie Kieffer, Josué Feingold, Fanny Lewin, Catherine Adamsbaum & Gérard Ponsot

  2. Réanimation Néonatale, Institut de Puériculture, Paris, France

    François Kieffer

  3. Laboratoire de Neuropathologie, Hôpital Trousseau, Paris, France

    Antoinette Gélot

  4. Neuropediatria, Hospital Sant Joan de Déu, Barcelona, Spain

    Jaume Campistol i Plana

  5. Departement de Neuropédiatrie, ULB, Hôpital Erasme, Brussels, Belgium

    Patrick van Bogaert

  6. Service de Néonatologie, Maternité Régionale, Nancy, France

    Monique André

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  1. Marie-Laure Moutard
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  2. Virginie Kieffer
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  3. Josué Feingold
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  4. François Kieffer
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  5. Fanny Lewin
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  6. Catherine Adamsbaum
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  7. Antoinette Gélot
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  8. Jaume Campistol i Plana
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  9. Patrick van Bogaert
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  10. Monique André
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  11. Gérard Ponsot
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Correspondence to Marie-Laure Moutard.

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Moutard, ML., Kieffer, V., Feingold, J. et al. Agenesis of corpus callosum: prenatal diagnosis and prognosis. Childs Nerv Syst 19, 471–476 (2003). https://doi.org/10.1007/s00381-003-0781-6

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  • DOI: https://doi.org/10.1007/s00381-003-0781-6

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