Diagnostic Implication of Skin Tubercles in Choking Case: An Autopsy Case

Abstract

Tuberous sclerosis is a genetic disorder that affects every organ system, has a diverse presentation and progression, and can be life threatening. The authors encountered a case of a choking death caused by a fragment of rice cake. The deceased was an inmate of a social welfare institution due to mental retardation. The deceased was a 60-year-old male, 170 cm in height, and weighed 74 kg. Autopsy revealed multiple tubercles on the face, undigested food material, including rice cake, in the stomach, cardiomegaly (460 g) with mild coronary atherosclerosis, fatty infiltration into the myocardium, severe pulmonary congestion and edema with froth in the bronchus, and a yellowishbrown mass in each kidney. The brain showed firmness of the cortex in the parietal lobe and blurring of the white-grey matter interface. Histologically, the kidney masses were consistent with angiomyolipoma, and the brain lesion revealed abnormal neurons and astrocytes with a ballooned appearance and glassy cytoplasm, suggestive of tuberous sclerosis. Fatty infiltration and focal interstitial fibrosis were observed in the heart. Toxicology results were negative. The authors determined that the autopsy findings were consistent with tuberous sclerosis and that it may have been the cause of mental retardation, which served as an indirect cause of choking.