Comparison of brain imaging and neuropathology in cases of trisomy 18 and 13.
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.
Inagaki
M
M
Division of Child Neurology, Tottori University School of Medicine, Yonago, Japan.
Ando
Y
Y
Mito
T
T
Ieshima
A
A
Ohtani
K
K
Takashima
S
S
Takeshita
K
K
D000015:Abnormalities, Multiple / Q000473:pathology*; D001921:Brain / Q000473:pathology; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000000981:diagnostic imaging; D025063:Chromosome Disorders; D002882:Chromosomes, Human, Pair 13 / Q000648:ultrastructure*; D002887:Chromosomes, Human, Pair 18 / Q000648:ultrastructure*; D005260:Female; D006330:Heart Defects, Congenital / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D014057:Tomography, X-Ray Computed; D014314:Trisomy; D014463:Ultrasonography