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Autopsy Report of a 7-Year Old Patient with the Mosaic Trisomy 13
Authors:George Imataka  Hideo Yamanouchi  Junko Hirato  Mitsuoki Eguchi  Masaru Kojima  Koichi Honma  Osamu Arisaka
Institution:1. Department of Pediatrics, Dokkyo Medical University School of Medicine, 880 Mibu, Shimotsuga, Tochigi, 321-0293, Japan
2. Department of Pediatrics, Saitama Medical University, Saitama, Japan
3. Department of Human Pathology, Gunma University Graduate School of Medicine, Gunma, Japan
4. Department of Pediatrics, International University of Health and Welfare Shioya Hospital, Tochigi, Japan
5. Department of Anatomic and Diagnostic Pathology, Dokkyo Medical University School of Medicine, Tochigi, Japan
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.
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