Summary
Three anatomical cases of unlayered polymicrogyria associated with agenesis of the corpus callosum and heterotopias are presented. The cortical dysplasia includes: (1) thin unlayered cortical mantle with radial disposition but no horizontal organisation of the neurons; (2) microgyria with fused molecular layers; and (3) persisting transitory cells in the molecular layer (Cajal-Retzius cells, subpial granular layer). A Golgi study of the cortex in one case shows abnormal orientation of the neuronal dendritic tree in the superficial area along the fused molecular layers. Heterotopias are of two types: scattered neurons in the subcortical region and in layer I; and nodular heterotopias in the paraventricular region and in centrum semi ovale. This type of cortical dysplasia differs from the classical four-layered microgyria and is similar to the cortical anomalies described in Aicardi syndrome. One case presented here has Aicardi syndrome, while the two others, one girl and one boy, do not meet the criteria for Aicardi syndrome; in particular, they do not display chorioretinal lacunae. Nevertheless, this neuropathological association is responsible for severe mental retardation and epilepsy, and incites the search for a genetic origin like that in Aicardi syndrome.
Similar content being viewed by others
References
Aicardi J, Lefebvre J, Lerique-Koechlin A (1965) A new syndrome: spasms in flexion, callosal agenesis, ocular abnormalities. Electroencephalogr Clin Neurophysiol 19:609–610
Angevine YB, Sidman RL (1961) Autoradiographic study of cell migration during histogenesis of the cerebral cortex in the mouse. Nature 192:766–768
Baker RC, Graves GO (1933) Partial agenesis of the corpus callosum. Arch Neurol Psychiatry 29:1054–1065
Bielschowsky M (1915–1918) Über Mikrogyrie. J Psychol Neurol 22:1–47
Bordarier C, Robain O, Rethoré MO, Dulac O, Dhellemes C (1986) Inverted neurons in agyria. A Golgi study of a case with abnormal chromosome 17. Hum Genet 73:374–378
Brun A (1965) The subpial granular layer of the foetal cerebral cortex in man. Its ontogeny and significance in congenital malformations. Acta Pathol Microbiol Scand [Suppl] 176:7–98
Caviness VS, Evrard P, Lyon G (1978) Radial neuronal assemblies, ectopia and necrosis of developing cortex: a case analysis. Acta Neuropathol (Berl) 41:67–72
Chevrie JJ, Aicardi J (1986) The Aicardi syndrome. In: Pedley TA, Meldrum BS (eds) Recent advances in epilepsy, vol 3. Churchill Livingston, Edinburgh, pp 189–210
Chi JG, Dooling EC, Gilles FH (1977) Gyral development of the human brain. Ann Neurol. 1:86–93
Conel JL (1947) The postnatal development of the human cerebral cortex, vol III The cortex of the three months infant. Harvard Univ Press, Cambridge, Mass, pp 1–158
Crome L (1952) Microgyria. J Pathol Bacteriol 64:479–495
Davidoff LM, Dyke CG (1934) Agenesis of the corpus callosum. Its diagnosis by encephalography. AJR 32:1–10
de Jong JGY, Delleman JW, Houben M, Manschot WA, de Minjer A, 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
de Leon GA (1972) Observations on cerebral and cerebellar microgyria. Acta Neuropathol (Berl) 20:278–287
Derer P (1988) Les cellules de Cajal-Retzius dans le cortex de la souris, évolution in vivo et in vitro. Rev Neurol (Paris) 146:163
Dvorak K, Feit J, Jurankova Z (1978) Experimentally induced focal microgyria and status verrucosus deformis in rats — Pathogenesis and interrelation histological and autoradiographical study. Acta Neuropathol (Berl) 44:121–129
Ferrer I (1984) Golgi analysis of unlayered polymicrogyria. Acta Neuropathol (Berl) 65:69–76
Ferrer I, Cusi MV, Liarte A, Campistol J (1986) A Golgi study of the polymicrogyric cortex in Aicardi syndrome. Brain Dev 8:518–525
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
Humphreys P, Rosen GD, Press DM, Sherman GF, Galaburda AM (1991) Freezing lesions of the developing rat brain: a model for cerebrocortical microgyria. J Neuropathol Exp Neurol 50:145–160
Jellinger K, Rett A (1976) Agyria-pachygyria (lissencephaly syndrome). Neuropediatrie 7:66–91
Jellinger K, Groß H, Kaltenbäck E, Grisold W (1981) Holoprosencephaly and agenesis of the corpus callosum: frequency of associated malformations. Acta Neuropathol (Berl) 55:1–10
Josephy H (1944) Congenital agyria and defect of the corpus callosum. J Neuropathol Exp Neurol 3:63–68
Loeser JD, Alvord EC Jr (1968a) Clinicopathological correlations in agenesis of the corpus callosum. Neurology 18:745–756
Loeser JD, Alvord EC Jr (1968b) Agenesis of the corpus callosum. Brain 91:553–570
Marburg O (1949) So-called agenesia of the corpus callosum (callosal defect). Anterior cerebral dysraphism. Arch Neurol Psychiatry 61:297–312
Mc Bride MC, Kemper TL (1982) Pathogenesis of fourlayered microgyric cortex in man. Acta Neuropathol (Berl) 57:93–98
Menkes JH, Philippart M, Clark DB (1964) Hereditary partial agenesis of corpus callosum. Biochemical and pathological studies. Arch Neurol 11:198–208
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
Parrish ML, Roessmann U, Levinsohn MW (1979) Agenesis of the corpus callosum: a study of the frequency of associated malformations. Ann Neurol 6:349–354
Probst M (1901) Über den Bau des vollständig balkenlosen Grosshirnes sowie über Mikrogyrie und Heterotopie der grauen Substanz. Arch Psychiatr Nervenkr 34:709–786
Rakic P (1972) Mode of cell migration to the superficial layers of fetal monkey neo-cortex. J Comp Neurol 145:61–84
Rakic P, Yakovlev PI (1968) Development of the corpus callosum and cavum septi in man. J Comp Neurol 132:45–72
Reil JC (1812) Mangel des mittleren und freyen Theils des Balkens im Menschengehirn. Arch Physiol 11:341–344
Richman DP, Stewart RM, Caviness VS (1974) Cerebral microgyria in a 27-week fetus. An architectonic and topographic analysis. J Neuropathol Exp Neurol 33:374–384
Robain O, Lyon G (1972) Les microcéphalies familiales par malformation cérébrale. Acta Neuropathol (Berl) 26:96–109
Robain O, Lanfumey L, Adrien J, Farkas E (1985) Developmental changes in the cerebellar cortex after locus ceruleus lesion with 6-hydroxydopamine in the rat. Exp Neurol 88:150–164
Sidman RL, Rakic P (1973) Neuronal migration, with special reference to developing human brain: a review. Brain Res 62:1–35
Sievers J, Mangold U, Berry M, Allen C, Schlossberger HG (1981) Experimental studies on cerebellar foliation. I. A qualitative morphological analysis of cerebellar fissuration defects after neonatal treatment with 6-OHDA in the rat. J Comp Neurol 24:196–216
Van Allen M, Clarren SK (1983) A spectrum of gyral anomalies in Miller-Dieker (lissencephaly) syndrome. J Pediatr 102:559–564
Walker AE (1942) Lissencephaly. Arch Neurol Psychiatry 48:13–29
Williams RS, Ferrante RJ, Caviness VS Jr (1976) The cellular pathology of microgyria. A Golgi analysis. Acta Neuropathol (Berl) 36:269–283
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Billette de Villemeur, T., Chiron, C. & Robain, O. Unlayered polymicrogyria and agenesis of the corpus callosum: a relevant association?. Acta Neuropathol 83, 265–270 (1992). https://doi.org/10.1007/BF00296788
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00296788