Other Syndromes Frequently Associated with Callosal Agenesis

  • Guy Geoffroy
Part of the Advances in Behavioral Biology book series (ABBI, volume 42)

Abstract

More than 50 disorders associated with agenesis of the corpus callosum (ACC) have been reported in medical literature. In most cases, the association appears to be a chance occurrence. Some of the cases have chromosomal abnormalities, others have central nervous malformation or metabolic disease and a few have peroxysomal disease or apparently unrelated systemic malformations (see Tables 1 and 2). A number of cases without concomitant pathology have also been described. Clinicians are at present considering the possibility that inherited metabolic disease may be responsible for cerebral malformations (Dobyns, 1989; Kolodny, 1989). In this context, we recently examined a brother and sister similarly afflicted with a complex neurological syndrome and an unusual metabolic abnormality of lipids. Both had agenesis of the cerebellar vermis.

Keywords

Schizophrenia Neurol Cataract Hypothyroidism Chlorpromazine 

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References

  1. Aicardi, J., Lefevre, J., and Lerique-Koechlin, A., 1965, A new syndrome: spasm in flexion, callosal agenesis, ocular abnormalities, Electroencephalogr. Clin. Neurophysiol. 19: 609–610.Google Scholar
  2. Andermann, F., Andermann E., Joubert, M., Karpati, G., Carpenter, S., and Melanson, D., 1972, Familial agenesis of the corpus callosum with anterior horn cell disease: a syndrome of mental retardation, areflexia and paraparesis, Trans. Am. Neurol. Assoc. 97: 242–244.Google Scholar
  3. Arroyo, H.A., Di Blasi, A.M., and Grinszpan, G.J., 1990, A syndrome of hyperhidrosis, hypothermia and bradycardia possibly due to central monoaminergic dysfunction, Neurology 40: 556–557.PubMedGoogle Scholar
  4. Atlas, S.W., Zimmerman, R.A., Bruce, D., et al., 1988, Neurofibromatosis and agenesis of the corpus callosum in identical twins: MR diagnosis, AJNR 9: 598–601.PubMedGoogle Scholar
  5. Barredo, F. and Geoffroy, G., 1967, L’association des lacunes pariétales à l’agénésie du corps calleux, Can. Med. Assoc. J. 96: 1531–1533.PubMedGoogle Scholar
  6. Barth, P.J., Uylings, H.B., and Stam, F.C., 1984, Interhemispheral neuroepithelial (glioependymal) cysts associated with agenesis of the corpus callosum and neocortical maldevelopment. A case study, Childs Brain 11: 312–319.PubMedGoogle Scholar
  7. Baughman, F.A. and Worcester, D.D., 1970, Agenesis of the corpus callosum in a case of focal dermal hypoplasia, Mt. Sinai J. Med. 37: 702–709.PubMedGoogle Scholar
  8. Ben Ari, J., Shuper, A., Mismonni, A., Rosen, O., Grunbaum, M., and Merlob, P., 1989, Agenesis of the corpus callosum associated with double urinary collecting system, trigonocephaly and other minor anomalies: a new association, Eur. J. Pediatr. 148: 787–788.PubMedCrossRefGoogle Scholar
  9. Bowen, P., Lee, C.S.N., and Zellweger, H., 1964, A familial syndrome of multiple congenital defects, Bul. Johns Hopk. Hosp. 114: 402–414.Google Scholar
  10. Byrd, S.E., 1988, Disorders of midline structures: holoprosencephaly, absence of corpus callosum, and Chian malformation, Semin. Ultrasound CT MR 9: 201–2115.PubMedGoogle Scholar
  11. Casamassima, A.C., Beneck, D., Gewitz, M.H., et al., 1989, Acrocallosal syndrome: additional manifestations, Am. J. Med. Genet. 32: 311–317.PubMedCrossRefGoogle Scholar
  12. Connacher, A.A., Forsyth, D.D., and Stewart, W.K., 1987, Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum, J. Med. Genet. 24: 116–118.PubMedCrossRefGoogle Scholar
  13. De Leon, G.A., De Leon, G., Grover, W.D., Zaeri, N., and Alburger, P., 1989, Agenesis of the corpus callosum in Apert syndrome?, Arch. Neurol. 46: 479.PubMedGoogle Scholar
  14. De Meyer, W., 1967, The median cleft face syndrome. Differential diagnosis of cranium bifidum occultum, hypertelorism and median cleft nose, lip and palate, Neurology 17: 961–971.Google Scholar
  15. De Morsier, G., 1962, Median cranioencephalic dysraphias and olfacto-genital dysplasia, World Neurol. 3: 485.Google Scholar
  16. Dobyns, W.B., 1989, Agenesis of the corpus callosum and gyral malformations are frequent manifestations of non ketotic hyperglycenemia, Neurology 39: 817–820.PubMedGoogle Scholar
  17. Fryns, J.P., Chrzanowska, K., and Van den Berghe, H., 1989, Hypohidrotic ectodermal dysplasia, primary hypothyroidism and agenesis of the corpus callosum, J. Med. Genet. 26: 520–521.PubMedCrossRefGoogle Scholar
  18. Gorlin, R.J. and Psaume, J., 1962, Orodigitofacial dysostosis: a new syndrome. A study of 22 cases, J. Pediatr. 61: 520–530.PubMedCrossRefGoogle Scholar
  19. Gorlin, R.J., Vickers, R.A., Keln, E., and Williamson, J.J., 1965, The multiple basal-cell nevi syndrome. An analysis of a syndrome consisting of multiple nevoid basal-cell carcinoma, jaw cysts, skeletal anomalies, medullo-blastoma and hyporesponsiveness to parathormone, Cancer 18: 89–104.PubMedCrossRefGoogle Scholar
  20. Grote, W., Rehder, H., Weisner, D., and Wiedemann, H.R., 1984, Prenatal diagnosis of a probable hereditary syndrome with holoprosencephaly, hydrocephaly, octodactyly and cardiac malformations, Eur. J. Pediatr. 143: 155–57.PubMedCrossRefGoogle Scholar
  21. Hart, M.N., Malamud, N., and Ellis, W.G., 1972, The Dandy-Walker syndrome. A clinicopathological study based on 28 cases, Neurology 22: 771–780.PubMedGoogle Scholar
  22. Hamer, R.N., 1977, Agenesis of the corpus callosum and associated defects, in: “Scientific Approaches to Clinical Neurology,” Vol. I., E. S. Goldensohn and S. H. Appel, eds, Lea & Febiger, Philadelphia.Google Scholar
  23. Holbeck, S., Friedrich, U., Grostrom, K., and Petersen, G.B., 1974, Monosomy for the centromeric and juxta-centromeric region of chromosome 21, Humangenetik 24: 191–195.Google Scholar
  24. Jeret, J.S., Serur, D., and Wisniewski, K., 1989, Agenesis of the corpus callosum and limbic malformations in Apert syndrome, Arch. Neurol. 46: 10.PubMedGoogle Scholar
  25. Josephy, H., 1944, Congenital agyria and defect of corpus callosum, J. Neuropath. Exp. Neurol. 3: 63–68.CrossRefGoogle Scholar
  26. Kimura, M., Nakajima, M., and Yoshino, K., 1990, Ulrich-Turner syndrome with agenesis of the corpus callosum, Am. J. Med. Genet. 37: 227–228.PubMedCrossRefGoogle Scholar
  27. Kolodny, E.H., 1989, Agenesis of corpus callosum: a marker for inherited metabolic diseases?, Neurology 39: 847–848.PubMedGoogle Scholar
  28. Larsen, P.D. and Osborn, A.G., 1982, Computed tomographic evaluations of corpus callosum agenesis and associated malformations, CT 6: 225–230.PubMedGoogle Scholar
  29. Legius, E., Fryns, J.P., Casaer, P., Boel, M., and Eggermont, E., 1985, Schinzel acrocallosal syndrome: a variant example of the Greig syndrome?, Am. Genet. (Paris) 28: 239–240.Google Scholar
  30. Lewis, S.W., Reveley, M.A., David, A.S., and Ron, M.A., 1988, Agenesis of the corpus callosum and schizophrenia: a case report, Psychol. Med. 18: 341–347.PubMedCrossRefGoogle Scholar
  31. LeWitt, P.A., 1988, Hyperhidrosis and hypothermia responsive to oxybutynin, Neurology 38: 506.PubMedGoogle Scholar
  32. LeWitt, P.A., Newman, R.P., Greenberg, H.S., Rocher, L.L., Caine, D.B., and Ehrenkranz, J.R.L., 1983, Episodic hyperhidrosis, hypothermia and agenesis of the corpus callosum, Neurology 33: 1122–1129.PubMedGoogle Scholar
  33. Lin, A.E. and Gettig, E., 1990, Craniosynostosis, agenesis of the corpus callosum, severe mental retardation, distinctive faces, camptodactyly and hypogonadism, Am. J. Med. Genet. 35: 582–585.PubMedCrossRefGoogle Scholar
  34. Lynn, R.B., Buchanan, D.C., Femichel, G.M., and Freemon, F.R., 1980, Agenesis of the corpus callosum, Arch. Neurol. 37: 444–445.PubMedGoogle Scholar
  35. Mauersberger, W. and Diaz, L.A., 1985, Sphenopharyngeal encephalocele associated with agenesis of the corpus callosum, Neurochirurgia (Stuttg.) 28: 238–242.Google Scholar
  36. Menkes, J., Philippart, M., and Clark, D., 1964, Hereditary partial agenesis of the corpus callosum, Arch. Neurol. 11: 198–208.PubMedGoogle Scholar
  37. Moeschler, J.B., Pober, B.R., Holmes, L.B., and Graham jr., J.M., 1989, Acrocallosal syndrome: new findings, Am. J. Med. Genet. 32: 306–310.PubMedCrossRefGoogle Scholar
  38. Mooradian, A.D., Morley, G.K., McGeachie, R., Lundgren, S., and Morley, J.E., 1984, Spontaneous periodic hypothermia, Neurology 34: 79–82.PubMedGoogle Scholar
  39. Nelson, M.M. and Thomson, A.J., 1982, The acrocallosal syndrome, Am. J. Med. Genet. 12: 195–199.PubMedCrossRefGoogle Scholar
  40. Neu, R.L., Kadjii, T., Gardner, L.I., Nagyfy, S.F., and King, S., 1971, A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings, Pediatrics 47: 610–612.PubMedGoogle Scholar
  41. Noel, P., Hubert, J.P., Ectors, M., Franken, L., and Rament-Durant, J., 1973, Agenesis of the corpus callosum associated with relapsing hypothermia, Brain 96: 359.PubMedCrossRefGoogle Scholar
  42. Opitz, J.M. and Kaveggia, E.G., 1974, Studies of malformation syndrome of man XXXIII. The FG syndrome: an X-linked recessive syndrome of multiple congenital anomalies and mental retardation, Z. Kinderheilkd. 117: 1–18.PubMedCrossRefGoogle Scholar
  43. Passarge, E., Trus, C.W., Sueoka, W.T., Baumgartner, N.R., and Keer, K.R., 1966, Malformations of the central nervous system in trisomy 18 syndrome, J. Pediatr. 69: 771–778.PubMedCrossRefGoogle Scholar
  44. Philip, N., Apicella, N., Lassman, I., Ayme, S., Mattei, J.F., and Giraud, F., 1988, The acrocallosal syndrome, Eur. J. Pediatr. 147: 206–208.PubMedCrossRefGoogle Scholar
  45. Rethoré, M.O., 1982, Chromosome 5: monosomy: partial deletion of short arm, in: “Handbook of Clinical Neurology: Neurogenetic Directory,” Vol. 43, Part II, P. J. Vinken and G. W. Bruyns, eds., Elsevier, North Holland, Amsterdam.Google Scholar
  46. Salgado, L.J., Ali, C.A., and Castilla, E.E.: 1989: Acrocallosal syndrome in a girl born to consanguineous parents, Am. J. Med. Genet. 32: 298–300.PubMedCrossRefGoogle Scholar
  47. Sanchis, A., Cervero, L., Martinez, A., and Valverde, C., 1985, Duplication of hands and feet, multiple joint dislocations, absence of the corpus callosum and hypsarrhythmia: acrocallosal syndrome ?, Am. J. Med. Genet. 20: 123–130.PubMedCrossRefGoogle Scholar
  48. Schinzel, A. and Kaufmann, U., 1986, The acrocallosal syndrome in sisters, Clin. Genet. 30: 399–405.PubMedCrossRefGoogle Scholar
  49. Schinzel, A. and Schmid, W., 1980, Hallux duplication, postarial polydactyly, absence of the corpus callosum, severe mental retardation and additional abnormalities in two unrelated patients: a new syndrome?, Am. J. Med. Genet. 6: 241–249.PubMedCrossRefGoogle Scholar
  50. Shapiro, W.R. and Plum, F., 1967, Paroxysmal hypothermia and mutism accompanying agenesis of the corpus callosum, Neurology 17: 317.Google Scholar
  51. Smith, D.W., 1976, Rubinstein-Taybi syndrome, in: “Recognizable Patterns of Human Malformation,” D.W. Smith, ed., W.B. Saunders Co., New York.Google Scholar
  52. Taybi, H. and Linder., D., 1967, Congenital familial dwarfism with cephaloskeletal dysplasia, Radiology 89: 275–281.Google Scholar
  53. Temtamy, S.A. and McGuid, N.A., 1989, Hypogenitalism in the acrocallosal syndrome, Am. J. Med. Genet. 32: 301–305.PubMedCrossRefGoogle Scholar
  54. Toriello, H.V., Radecki, L.L., Sharda, J., Looyenga, D., and Mann, R., 1986, Frontonasal “dysplasia”, cerebral anomalies and polydactyly: report of a new syndrome and discussion from a developmental field perspective, Am. J. Med. Genet. (Suppl.) 2: 89–96.CrossRefGoogle Scholar
  55. Trabelsi, M., Hammon-Jeddi, A., Kammoun, A., Bennaceur, B., and Gharbi, H.A., 1990, Dystrophie thoracique asphyxiante de Jeune associée à une hypoplasie ductulaire hépathique, une agénésie du corps calleux et un syndrome de Dandy-Walker, Pediatrie 45: 35–38.PubMedGoogle Scholar
  56. Vercelletto-Frior, M., Lavenant, F., Bricout, J.H., Venisse, T., Vercelletto, P., and Feve, J.R., 1986, Apraxie oculo-motrice congénitale avec agénésie du corps calleux et atrophie sous-tentorielle, Rev. Neural. (Paris) 142: 140–144.Google Scholar
  57. Vici, C.D., Sabetta, G., Gambarara, M., et al., 1988, Agenesis of the corpus callosum combined with immunodeficiency, bilateral cataract and hypopigmentation in two brothers, Am. J. Med. Genet. 29: 1–18.PubMedCrossRefGoogle Scholar
  58. Wariyar, U.K., Welch, R.J., Milligan, D.W., and Perry, R.H., 1990, Sonographic and pathological features of callosal hypoplasia in non-ketotic hyperglycinaemia, Arch. Dis. Child. 65: 670–671.PubMedCrossRefGoogle Scholar
  59. Warkany, J., 1971, “Congenital Malformations,” III: Year Book Medical Publishers, Chicago.Google Scholar
  60. Young, I.D., Trounce, J.Q., Levene, M.I., Fitzsimmonds, J.S., and Moore, J.R., 1985, Agenesis of the corpus callosum and macrocephaly in siblings, Clin. Genet. 28: 225–230.PubMedCrossRefGoogle Scholar
  61. Zingesser, L.H., Schlechter, M.M., and Medina, A., 1966, Angiographie and pneumoencephalographic features of holoprosencephaly, Am. J. Roentgenol. 97: 561–574.Google Scholar

Copyright information

© Plenum Press, New York 1994

Authors and Affiliations

  • Guy Geoffroy
    • 1
  1. 1.Service de Neurologie, Département de PédiatrieHôpital Sainte-Justine pour les EnfantsMontréalCanada

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