Summary
A comparative study of intracranial imaging and brain pathology in cases of trisomy 18 and 13 was performed. Computed tomography (CT) and ultrasonography (US) revealed disproportional dilatation of the lateral ventricles, a wide Sylvian fissure and a large extracerebellar space with a small cerebellum in each case. In addition, it was characteristic that the occipital poles of the cerebrum protruded in the infero-posterior direction in trisomy 18, and the pontine basis was relatively wide in trisomy 13. The brain pathology in trisomy 18 and 13 demonstrated that the large extracerebellar space is due to the cerebellar dysplasia and protruding occipital poles, the wide Sylvian fissures due to the temporal lobes or external capsular dysplasia, and the relatively wide pontine basis due to meningeal glioneuronal heterotopia. Thus, the characteristic intracranial image in trisomy 18 and 13 suggest microdysgenesis of the brain and might be useful for understanding the pathological structure of the central nervous system in these conditions.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Hodes ME, Cole J, Palmer CG, Reed T (1978) Clinical experience with trisomy 18 and 13. J Med Genet 15: 48–60
Norman RM (1966) Neuropathological findings in trisomies 13–15 and 17–18 with special reference to the cerebellum. Dev Med Child Neurol 8: 170–177
Warkany J, Passarge E, Smith LB (1966) Congenital malformations in autosomal trisomy syndromes. Am J Dis Child 112: 502–517
Taylor AI (1968) Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards's syndrome and 27 cases of Patau's syndrome. J Med Genet 5: 227–252
Nishimura M, Ieshima, A, Takashima S, Takeshita K (1986) Focal vulnerability of developing brain: CT studies on disproportion dilated lateral ventricles. Neuroradiology 28: 30–33
Sumi SM (1970) Brain malformations in the trisomy 18 syndrome. Brain 93: 821–830
Michaelson PS, Gilles FH (1972) Central nervous system abnormalities in trisomy E (17–18) syndrome. J Neurol Sci 15: 193–208
Ieshima A, Takashima S, Takada K, Akamatsu Y, Ohtani K, Ando G (1985) Clinicopathological study in a female infant with 46,XX,i (18q) showing mixed features of both trisomy 18 and monosomy 18p. Jpn J Human Genet 30: 219–226
Gilvert LA, Dudley AW Jr, Meisner L, Viseskul C, de Venecia G (1977) New neurological findings in trisomy 13. Arch Pathol Lab Med 101: 540–544
Hori A, Peiffer J, Peiffer RA, Iizuka R (1980) Cerebello-cortical heterotopia in dentate nucleus and other microdysgeneses in trisomy D1 (Patau) syndrome. Brain Dev 2: 345–352
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Inagaki, M., Ando, Y., Mito, T. et al. Comparison of brain imaging and neuropathology in cases of trisomy 18 and 13. Neuroradiology 29, 474–479 (1987). https://doi.org/10.1007/BF00341747
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00341747