title: A morphometric study to establish criteria for fetal and neonatal cerebellar hypoplasia: A special emphasis on trisomy 18.
abstract: Cerebellar hypoplasia (CH) is one of the congenital abnormalities of the central nervous system and is seen in several diseases and syndromes. This study was conducted in order to examine methods for evaluating CH in fetus and neonate because CH has been diagnosed without any morphometric criteria at autopsy. We sampled 140 autopsied cases including nineteen trisomy 18 (T18), four non-T18 with presumed CH, and 117 control cases without any brain malformation. Statistical significance was present in the cerebellar weight and weight ratio of cerebellum per total brain between T18 and the control. The exponential regression models (ERM) showed that cerebral weight, cerebellar weight, and weight ratio of cerebellum per total brain increased gradually relative to gestational age in both T18 and the control. However, cerebellar weight and weight ratio of cerebellum per total brain of T18 showed growth delay with clear distinction between the two groups. The non-T18 with presumed CH showed similar results. Body weight, total brain, and gestational age should be considered totally when evaluating fetal and neonatal cerebellar development. Furthermore, the ERM results may be useful to evaluate the cerebellar development of fetus and neonate at autopsy.
authors.affiliation: Department of Pathology, Kanagawa Children's Medical Center, Yokohama, Japan.|Department of Molecular Pathology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: Ayumi
authors.initials: A
authors.lastname: Murakami
authors.affiliation: Department of Pathology, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Mio
authors.initials: M
authors.lastname: Tanaka
authors.affiliation: Department of Pathology, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Rieko
authors.initials: R
authors.lastname: Ijiri
authors.affiliation: Department of Pathology, Kanagawa Children's Medical Center, Yokohama, Japan.|Division of Pediatric Hematology and Oncology, Ibaraki Children's Hospital, Ibaraki, Japan.
authors.forename: Keisuke
authors.initials: K
authors.lastname: Kato
authors.affiliation: Department of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Sumimasa
authors.initials: S
authors.lastname: Yamashita
authors.affiliation: Department of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Kurosawa
authors.affiliation: Brain Pathology, Research Center, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan.
authors.forename: Nobutaka
authors.initials: N
authors.lastname: Arai
authors.affiliation: Department of Molecular Pathology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: Ichiro
authors.initials: I
authors.lastname: Aoki
authors.affiliation: Department of Pathology, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Yukichi
authors.initials: Y
authors.lastname: Tanaka
mesh_terms: D001344:Autopsy; D001835:Body Weight; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D002658:Developmental Disabilities / Q000145:classification / Q000473:pathology; D005260:Female; D005333:Fetus; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009421:Nervous System Malformations / Q000145:classification / Q000473:pathology*; D009929:Organ Size; D011247:Pregnancy; D012044:Regression Analysis; D050497:Stillbirth; D014314:Trisomy / Q000235:genetics*; D000073842:Trisomy 18 Syndrome
keywords: cerebellar hypoplasia; fetus; neonate; trisomy 18