기도폐색성질식사 사례에서 우연히 포착된 피부 다발성 결절의 진단적 의의: 부검 1예
Diagnostic Implication of Skin Tubercles in Choking Case: An Autopsy Case
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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.
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.
참고문헌 (25)
- "Z Erforsch Behandl Jugendl Schwachsinns", 1908, 1~12
- Kwiatkowski DJ, "Tuberous sclerosis", Arch Dermatol, 130, pp.348~354 (1994)
- Leung AK, "Tuberous sclerosis complex : a review", J Pediatr Health Care, 21, pp.108~114 (2007)
- van Slegtenhorst M, "Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34", Science, 277, pp.805~808 (1997)
- European Chromosome 16 Tuberous Sclerosis Consortium, "Identification and characterization of the tuberous sclerosis gene on chromosome 16", Cell, 75, pp.1305~1315 (1993)
- Roach ES, "Tuberous sclerosis complex consensus conference : revised clinical diagnostic criteria", J Child Neurol, 13, pp.624~628 (1998)
- Rushton MA, "Some less common bone lesions affecting the jaws", Oral Surg Oral Med Oral Pathol, 9, pp.284~304 (1956)
- "Arch Neurol", 1880, 81~91
- Krueger DA, "Tuberous sclerosis complex surveillance and management : recommendations of the 2012International Tuberous Sclerosis Complex Consensus Conference", Pediatr Neurol, 49, pp.255~265 (2013)
- Osborne JP, "Epidemiology of tuberous sclerosis", Ann N Y Acad Sci, 615, pp.125~127 (1991)
- O'Callaghan FJ, "Prevalence of tuberous sclerosis estimated by capture-recapture analysis", Lancet, 351, pp.1490~ (1998)
- Sweeney SM, "Pediatric dermatologic surgery : a surgical approach to the cutaneous features of tuberous sclerosis complex", Adv Dermatol, 20, pp.117~135 (2004)
- Roach ES, "Diagnosis of tuberous sclerosis complex", J Child Neurol, 19, pp.643~649 (2004)
- Yates JR, "Tuberous sclerosis", Eur J Hum Genet, 14, pp.1065~1073 (2006)
- Sparagana SP, "Tuberous sclerosis complex", Curr Opin Neurol, 13, pp.115~119 (2000)
- DiMario FJ Jr, "Brain abnormalities in tuberous sclerosis complex", J Child Neurol, 19, pp.650~657 (2004)
- Caviness VS Jr, "Cerebral lesions of tuberous sclerosis in relation to normal histogenesis", Ann N Y Acad Sci, 615, pp.187~195 (1991)
- Richardson EP Jr, "Pathology of tuberous sclerosis. Neuropathologic aspects", Ann N Y Acad Sci, 615, pp.128~139 (1991)
- Lendvay TS, "The tuberous sclerosis complex and its highly variable manifestations", J Urol, 169, pp.1635~1642 (2003)
- Jozwiak S, "Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex", Pediatrics, 118, pp.e1146~e1151 (2006)
- Jozwiak J, "Possible mechanisms of disease development in tuberous sclerosis", Lancet Oncol, 9, pp.73~79 (2008)
- Rakowski SK, "Renal manifestations of tuberous sclerosis complex : Incidence, prognosis, and predictive factors", Kidney Int, 70, pp.1777~1782 (2006)
- Shepherd CW, "Causes of death in patients with tuberous sclerosis", Mayo Clin Proc, 66, pp.792~796 (1991)
- O'Callaghan FJ, "An epidemiological study of renal pathology in tuberous sclerosis complex", BJU Int, 94, pp.853~857 (2004)
- Amin S, "Causes of mortality in individuals with tuberous sclerosis complex", Dev Med Child Neurol, 59, pp.612~617 (2017)