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Pyramidal tract abnormalities in the human fetus and infant with trisomy 18 syndrome
Author(s) -
Miyata Hajime,
Miyata Mio,
Ohama Eisaku
Publication year - 2014
Publication title -
neuropathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.701
H-Index - 61
eISSN - 1440-1789
pISSN - 0919-6544
DOI - 10.1111/neup.12081
Subject(s) - trisomy , pyramidal tracts , joubert syndrome , anatomy , corticospinal tract , pathology , medicine , biology , genetics , magnetic resonance imaging , radiology , diffusion mri , cilium
Trisomy 18 or E dwards syndrome is known to exhibit various developmental abnormalities in the central nervous system. We report dominant uncrossed pyramidal tract in trisomy 18 syndrome, based on the postmortem neuropathologic study of eight consecutive autopsied fetuses and infants with trisomy 18 ranging in age from 16 to 39 weeks of gestation, including six males and two females, along with autopsy cases of a stillborn triploid infant with 69XXX and two stillborn infants without chromosomal or neurodevelopmental abnormalities. Five out of eight cases with trisomy 18 showed a larger proportion of uncrossed than crossed pyramidal tract. All of these cases were male, and the anterior corticospinal tract on one side was constantly larger than the contralateral lateral corticospinal tract in the spinal cord on both sides, while the pyramidal tract was hypoplastic in female cases with trisomy 18 and a case with 69XXX . Abnormal pyramidal decussation has been found in cases with posterior fossa malformations such as occipital encephaloceles, D andy‐ W alker malformation, J oubert syndrome and M öbius syndrome, but has not been described in cases with trisomy 18. Our data, together with the previous reports describing uncrossed aberrant ipsilateral pyramidal tract in patients with congenital mirror movements caused by DCC gene mutation in chromosome 18, and hypolasia and hyperplasia of the pyramidal tract in X ‐linked recessive disorders caused by L1CAM and K al1 gene mutations, respectively, suggest a role of trisomy 18 in association with X ‐chromosome in the abnormal development of the pyramidal tract.