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.
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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.
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.
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.
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.
Barredo, F. and Geoffroy, G., 1967, L’association des lacunes pariétales à l’agénésie du corps calleux, Can. Med. Assoc. J. 96: 1531–1533.
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.
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.
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.
Bowen, P., Lee, C.S.N., and Zellweger, H., 1964, A familial syndrome of multiple congenital defects, Bul. Johns Hopk. Hosp. 114: 402–414.
Byrd, S.E., 1988, Disorders of midline structures: holoprosencephaly, absence of corpus callosum, and Chian malformation, Semin. Ultrasound CT MR 9: 201–2115.
Casamassima, A.C., Beneck, D., Gewitz, M.H., et al., 1989, Acrocallosal syndrome: additional manifestations, Am. J. Med. Genet. 32: 311–317.
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.
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.
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.
De Morsier, G., 1962, Median cranioencephalic dysraphias and olfacto-genital dysplasia, World Neurol. 3: 485.
Dobyns, W.B., 1989, Agenesis of the corpus callosum and gyral malformations are frequent manifestations of non ketotic hyperglycenemia, Neurology 39: 817–820.
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.
Gorlin, R.J. and Psaume, J., 1962, Orodigitofacial dysostosis: a new syndrome. A study of 22 cases, J. Pediatr. 61: 520–530.
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.
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.
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.
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.
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.
Jeret, J.S., Serur, D., and Wisniewski, K., 1989, Agenesis of the corpus callosum and limbic malformations in Apert syndrome, Arch. Neurol. 46: 10.
Josephy, H., 1944, Congenital agyria and defect of corpus callosum, J. Neuropath. Exp. Neurol. 3: 63–68.
Kimura, M., Nakajima, M., and Yoshino, K., 1990, Ulrich-Turner syndrome with agenesis of the corpus callosum, Am. J. Med. Genet. 37: 227–228.
Kolodny, E.H., 1989, Agenesis of corpus callosum: a marker for inherited metabolic diseases?, Neurology 39: 847–848.
Larsen, P.D. and Osborn, A.G., 1982, Computed tomographic evaluations of corpus callosum agenesis and associated malformations, CT 6: 225–230.
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.
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.
LeWitt, P.A., 1988, Hyperhidrosis and hypothermia responsive to oxybutynin, Neurology 38: 506.
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.
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.
Lynn, R.B., Buchanan, D.C., Femichel, G.M., and Freemon, F.R., 1980, Agenesis of the corpus callosum, Arch. Neurol. 37: 444–445.
Mauersberger, W. and Diaz, L.A., 1985, Sphenopharyngeal encephalocele associated with agenesis of the corpus callosum, Neurochirurgia (Stuttg.) 28: 238–242.
Menkes, J., Philippart, M., and Clark, D., 1964, Hereditary partial agenesis of the corpus callosum, Arch. Neurol. 11: 198–208.
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.
Mooradian, A.D., Morley, G.K., McGeachie, R., Lundgren, S., and Morley, J.E., 1984, Spontaneous periodic hypothermia, Neurology 34: 79–82.
Nelson, M.M. and Thomson, A.J., 1982, The acrocallosal syndrome, Am. J. Med. Genet. 12: 195–199.
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.
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.
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.
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.
Philip, N., Apicella, N., Lassman, I., Ayme, S., Mattei, J.F., and Giraud, F., 1988, The acrocallosal syndrome, Eur. J. Pediatr. 147: 206–208.
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.
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.
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.
Schinzel, A. and Kaufmann, U., 1986, The acrocallosal syndrome in sisters, Clin. Genet. 30: 399–405.
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.
Shapiro, W.R. and Plum, F., 1967, Paroxysmal hypothermia and mutism accompanying agenesis of the corpus callosum, Neurology 17: 317.
Smith, D.W., 1976, Rubinstein-Taybi syndrome, in: “Recognizable Patterns of Human Malformation,” D.W. Smith, ed., W.B. Saunders Co., New York.
Taybi, H. and Linder., D., 1967, Congenital familial dwarfism with cephaloskeletal dysplasia, Radiology 89: 275–281.
Temtamy, S.A. and McGuid, N.A., 1989, Hypogenitalism in the acrocallosal syndrome, Am. J. Med. Genet. 32: 301–305.
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.
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.
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.
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.
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.
Warkany, J., 1971, “Congenital Malformations,” III: Year Book Medical Publishers, Chicago.
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.
Zingesser, L.H., Schlechter, M.M., and Medina, A., 1966, Angiographie and pneumoencephalographic features of holoprosencephaly, Am. J. Roentgenol. 97: 561–574.
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Geoffroy, G. (1994). Other Syndromes Frequently Associated with Callosal Agenesis. In: Lassonde, M., Jeeves, M.A. (eds) Callosal Agenesis. Advances in Behavioral Biology, vol 42. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-0487-6_7
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DOI: https://doi.org/10.1007/978-1-4613-0487-6_7
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