title: Autopsy report of a 7-year old patient with the mosaic trisomy 13.
abstract: We present here a long survival case of a patient with the mosaic form of trisomy 13 who died of aspiration pneumonia at the age of 7 years and 4 months. The autopsy revealed olfactory aplasia and fenestration of the septum pellucidum, and dilated lateral ventricles and atrophic hippocampus. Furthermore, there were numerous "torpedos" (i.e., swollen fusiform Purkinje cell axons), mostly in the granular layer underneath the Purkinje cell layer, and, occasionally, in the granular layer. Similar neuropathological findings have been reported in elderly cases of essential tremor, Parkinson's disease, or Alzheimer's disease. Precise mechanism for this axonal change is still unclear. These pathological changes have never previously been reported in the literature on trisomy 13, and the present patient is one of the oldest autopsied individuals with the mosaic trisomy 13.
authors.affiliation: Department of Pediatrics, Dokkyo Medical University School of Medicine, 880 Mibu, Shimotsuga, Tochigi, 321-0293, Japan, geo@dokkyomed.ac.jp.
authors.forename: George
authors.initials: G
authors.lastname: Imataka
authors.forename: Hideo
authors.initials: H
authors.lastname: Yamanouchi
authors.forename: Junko
authors.initials: J
authors.lastname: Hirato
authors.forename: Mitsuoki
authors.initials: M
authors.lastname: Eguchi
authors.forename: Masaru
authors.initials: M
authors.lastname: Kojima
authors.forename: Koichi
authors.initials: K
authors.lastname: Honma
authors.forename: Osamu
authors.initials: O
authors.lastname: Arisaka
mesh_terms: D001344:Autopsy; D001773:Blood Cells / Q000473:pathology; D002648:Child; D025063:Chromosome Disorders / Q000097:blood / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D009030:Mosaicism; D009460:Neurologic Examination; D011247:Pregnancy; D014314:Trisomy / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D000073839:Trisomy 13 Syndrome