Autopsy Report of a 7-Year Old Patient with the Mosaic Trisomy 13

George Imataka,Hideo Yamanouchi,Koichi Honma,Mitsuoki Eguchi,Junko Hirato,Masaru Kojima,Osamu Arisaka

doi:10.1007/s12013-013-9567-y

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.

Highlights

The trisomy 13 syndrome, called Patau syndrome, was first reported in 1960 [1]
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
We report an autopsy case of a 7-year-old boy with mosaic type of the trisomy 13 syndrome

Summary

Introduction

The trisomy 13 syndrome, called Patau syndrome, was first reported in 1960 [1]. It is a congenital anomaly syndrome caused by accessory chromosome 13 of the D1 group. 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. 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.

Results

Conclusion