Autopsy report of a 7-year old patient with the mosaic trisomy 13
| Autor: | Koichi Honma, Hideo Yamanouchi, George Imataka, Masaru Kojima, Osamu Arisaka, Junko Hirato, Mitsuoki Eguchi |
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| Rok vydání: | 2013 |
| Předmět: |
Male
Pathology medicine.medical_specialty Trisomy 13 Syndrome Survival Purkinje cell Biophysics Autopsy Chromosome Disorders Trisomy Granular layer Biology Aspiration pneumonia Biochemistry Olfactory aplasia Pregnancy medicine Humans Child Septum pellucidum Neurologic Examination Blood Cells Essential tremor Chromosomes Human Pair 13 Mosaicism Translational Biomedical Research Cell Biology General Medicine medicine.disease Torpedos Trisomy 13 medicine.anatomical_structure Patau syndrome Female |
| Zdroj: | Cell Biochemistry and Biophysics |
| ISSN: | 1559-0283 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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