Summary
The Pena-Shokeir syndrome is characterized by intrauterine growth retardation, camptodactyly, multiple ankyloses, facial anomalies and pulmonary hypoplasia. The condition is thought to be inherited in an autosomal recessive fashion. A detailed neuropathological analysis of the brain of a stillborn full-term male infant who exhibited the gross features of the Pena-Shokeir syndrome revealed diffuse bilateral cerebral polymicrogyria associated with multicystic encephalopathy. Abnormal brain development, which was characterized by disturbances in neuronal migration and laminar cortical organization, was clearly associated with changes of an encephaloclastic nature, namely reactive gliosis and infiltration by macrophages. These findings suggest strongly that the Pena-Shokeir syndrome may also result from teratogenic factors such as intrauterine ischemic and/or hypoxic insults to the developing brain.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Bankl H, Jellinger K (1967) Zentralnervöse Schäden nach fetaler Kohlenoxydvergiftung. Beitr Pathol Anat Allg Pathol 135:350–376
Bielschowsky M (1915) Über Mikrogyrie. Z Psychol 22:1–47
Crome L (1952) Microgyria. J Pathol Bacteriol 64:479–495
Crome L, France N (1959) Microgyria and cytomegalic inclusion disease in infancy. J Clin Pathol 12:427–434
Dekaban A (1965) Large defects in cerebral hemispheres associated with cortical dysgenesis. J Neuropathol Exp Neurol 24:512–530
De Leon GA (1972) Observations on cerebral and cerebellar microgyria. Acta Neuropathol (Berl) 20:278–287
Dias MJM, Harmant-van Rijckevorsel G, Landrieu P, Lyon G (1984) Prenatal cytomegalovirus diseases and cerebral microgyria: evidence for perfusion failure, not disturbance of histogenesis, as the major cause of fetal cytomegalovirus encephalopathy. Neuropediatrics 15:18–24
Diezel P (1954) Mikrogyrie infolge cerebraler Speicheldrüsen-Virusinfektion im Rahmen einer generalisierten Cytomegalies bei einem Säugling. Virchows Arch [A] 325:109–130
Dimmick JE, Berry K, MacLeod PM, Hardwick F (1977) Syndrome of ankylosis, facial anomalies, and pulmonary hypoplasia: a pathologic analysis of one infant. Brith Defects 13:133–137
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) A Golgi analysis of unlayered polymicrogyria. Acta Neuropathol (Berl) 65:69–76
Hallervorden J (1949) Über eine Kohlenoxydvergiftung im Fetalleben mit Entwicklungsstörung der Hirnrinde. Allg Z Psychiatr 124:289–298
Jacob H (1940) Die feinere Oberflächengestaltung der Hirnwindungen, die Hirnwarzenbildung und die Mikropolygyrie. Z Gesamte Neurol Psychiatr 170:64–84
Nevin JJ, Angevine JM (1968) Congenital cytomegalic inclusion disease with porencephaly. Neurology 18:470–472
Norman MG (1980) Bilateral encephaloclastic lesions in a 26 week gestation fetus: effect on neuroblast migration. Can J Neurol Sci 7:191–194
Pena SDJ, Shokeir MHK (1974) Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition. J Pediatr 85:373–375
Pena SDJ, Shokeir MHK (1976) Syndrome of camptodactyly, multiple ankyloses, facial anomalies and pulmonary hypoplasia — further delineation and evidence for autosomal recessive inheritance. Birth Defects 12:201–208
Punnett H, Kistenmacher ML, Valdes-Dapena M, Ellison RT (1974) Syndrome of ankylosis, facial anomalies, and pulmonary hypoplasia. J Pediatr 85:357–377
Ranck JB, Windle WF (1959) Brain damage in the monkey, macaca multatta, by asphyxia neonatorum. Exp Neurol 1:130–154
Richman DP, Stewart RM, Caviness VS Jr (1974) Cerebral microgyria in a 27-week fetus: an architectonic and topographic analysis. J Neuropathol Exp Neurol 33:374–384
Schmitt HP (1984) Multicystic encephalopathy — a polyetiologic condition in early infancy: morphologic, pathogenetic and clinical aspects. Brain Dev 1:1–9
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
Additional information
Supported in part by USPHS NIEHS grant ES 02928
Rights and permissions
About this article
Cite this article
Choi, B.H., Ruess, W.R. & Kim, R.C. Disturbances in neuronal migration and laminar cortical organization associated with multicystic encephalopathy in the Pena-Shokeir syndrome. Acta Neuropathol 69, 177–183 (1986). https://doi.org/10.1007/BF00688292
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00688292