Pulmonary lymphangioleiomyomatosis is a rare disease which is defined as an abnormal proliferation of smooth muscles around lymphatics, venules, and bronchioles. The most frequent presenting complaint is dyspnea, either in conjunction with pneumothorax, chylothorax, or on exertion. Common extrapulmonary features are retroperitoneal adenopathy, tuberous sclerosis and renal angiomyolipomas. This case was a 34-year-old pregnant woman who died of pneumothorax. She had no past history of illness. At autopsy, both lungs showed honey-comb appearance, and was proven histopathologically pulmonary lymphangioleiomyomatosis. The proliferating smooth muscles were immunoreactive for alpha-smooth muscle actin and HMB-45. Multiple angiomyolipomas of left kidney coexisted. However, no stigmata of tuberous sclerosis was present. Pregnancy was thought to aggravate her clinical course.
Actins ; Adult ; Angiomyolipoma ; Autopsy* ; Bronchioles ; Christianity ; Chylothorax ; Dyspnea ; Female ; Humans ; Kidney ; Lung ; Lymphangioleiomyomatosis* ; Muscle, Smooth ; Pneumothorax* ; Pregnancy ; Pregnant Women ; Rare Diseases ; Tuberous Sclerosis ; Venules

Pompe disease (Glycogenosis type 2) is an autosomal recessive glycogen storage disorder by deficiency of lysosomal acid alpha-glucosidase. The disorder encompasses a range of phenotypes, each including myopathy but differing in age of onset, organ involvement, and clinical severity. Glycogen storage is most prominent in skeletal and cardiac muscle, and liver. The authors described a 8-year-old girl who presented hypotonia, mental retardation and hepatomegaly, and died accidentally of burn. Light and electron microscopic examination on autopsied tissue revealed diffuse both cytoplasmic and lysosomal glycogen storage in hepatocytes, neurons of cerebral cortex and hippocampus, and renal tubular epithelium. A few cases of Pompe disease with CNS involvement has been reported in English literature previously. Nevertheless, to our knowledge, it is the first time in Korea.
Age of Onset ; alpha-Glucosidases ; Burns ; Cerebral Cortex ; Child ; Cytoplasm ; Epithelium ; Female ; Glycogen ; Glycogen Storage Disease Type II* ; Hepatocytes ; Hepatomegaly ; Hippocampus ; Humans ; Intellectual Disability ; Korea ; Liver ; Muscle Hypotonia ; Muscular Diseases ; Myocardium ; Neurons ; Phenotype

We recently encountered a rare autopsy case of neurofibromatosis type I(von Reckli- nghausen disease) associated with both Moyamoya disease and pheochromocytoma. A 36-year-old male died of subarachnoid and intracerebral hemorrhage, who had history of three times of head surgery due to head trauma since the age of 16, and abdominal surgery for inflammed granulation tissue with central abscess. On examination, he had numerous cafe au lait spots, and multiple sessile and pedunculated greysh yellow nodules varying in size on the skin of the whole body, histopathologically being proven neurofibromas. At the base of the brain, abnormal complex vascular networks were recognized around the circle of Willis. Microscopically, some of blood vessels showed eccentric intimal fibrous thickening and tortuous internal elastic lamina, a finding which is consistent with Moyamoya vessels. Also, a pheochromocytoma on right adrenal gland was incidentally found. To the best of our knowledge, this unique combination has never been reported in Korea.
Abscess ; Adrenal Glands ; Adult ; Autopsy ; Blood Vessels ; Brain ; Cafe-au-Lait Spots ; Cerebral Hemorrhage ; Circle of Willis ; Craniocerebral Trauma ; Granulation Tissue ; Head ; Humans ; Korea ; Male ; Moyamoya Disease* ; Neurofibroma ; Neurofibromatoses* ; Neurofibromatosis 1* ; Pheochromocytoma* ; Skin ; Subarachnoid Hemorrhage

Giant cell myocarditis is a rare rapidly fatal disease of unknown cause, often occuring in young to middle-aged adults. Most presented with congestive heart failure, ventricular arrhythmia, heart block or sudden cardiac death. The histologic hallmarks of giant cell myocarditis include a polymorphous inflammatory response with numerous multinucleated giant cells and myocyte necrosis. Response to immunosuppresive therapy is poor and cardiac transplantation is considered to be the treatment of choice. We experienced 4 cases of giant cell myocarditis, all of which were autopsied and underwent postmortem pathologic examination. Grossly, the heart was enlarged, measuring up to 510 gm, with thickend septal and ventricular wall. Microscopically, 3 cases showed diffuse active myocarditis with extensive myocyte necrosis, while 1 case showed exuberant fibrosis. Many multinucleated giant cells were present throughout the lesion. Immunohistochemical stain supports the view that the giant cells have a histiocytic origin. Neither microorganisms nor foreign material were found on PAS and AFB stains. Because giant cell myocarditis is on occasion associated wth immunologic disorders, autopsy should be carefully performed to define the correlation between the two.
Adult ; Arrhythmias, Cardiac ; Autopsy ; Coloring Agents ; Death, Sudden ; Death, Sudden, Cardiac ; Fibrosis ; Giant Cells* ; Heart ; Heart Block ; Heart Failure ; Heart Transplantation ; Humans ; Muscle Cells ; Myocarditis* ; Necrosis

In 2009, the novel swine H1N1 influenza (SI) virus infection had been pandemic and in some patients it led to death. But autopsy findings with pathologic features have been rarely known in the deceased with the SI infection. Herein we presented the findings in three deceased cases with the infection of SI virus, compared with those of other literatures. In all cases, postmortem examination with legal autopsy was done due to sudden unexpected death. SI virus infection was confirmed by detection of SI viral RNA performed on Korea center for Disease Control and Prevention. The autopsy findings with pathologic features of our cases were similar to those of the cases on other reports and those of previous pandemic influenza virus infection on literatures. And these findings may be helpful for understanding the biology of SI virus, and for diagnosis, treatment, and prevention of the SI infection.
Autopsy ; Biology ; Centers for Disease Control and Prevention (U.S.) ; Humans ; Influenza A Virus, H1N1 Subtype ; Influenza, Human ; Korea ; Orthomyxoviridae ; Pandemics ; RNA, Viral ; Swine ; Viruses

Ocular symptoms related to orbital fracture occur immediately after the fracture in most cases. However, authors experienced a delayed onset diplopia occurred 16 months after orbital floor fracture. A 19-year-old man, who had right orbital floor fracture 16 months ago, presented with diplopia of upward gaze. At the time of the fracture, no surgery was performed because the fracture was minimal and there were no particular symptoms. Physical examinations revealed a minor ocular motility restriction of upward gaze, but orbital floor showed no definite interval change on computed tomography. Severe adhesion between the orbital fat tissue and orbital floor was noted intraoperatively and the adhesion was dissected. After the operation, the patient showed remarkable improvement in diplopia and restriction of the ocular motility.
Diplopia ; Floors and Floorcoverings ; Humans ; Orbit ; Orbital Fractures ; Physical Examination ; Young Adult

BACKGROUND: Tamoxifen (TAM) inhibits the action of estrogen by binding to estrogen receptors, and also has non-estrogen receptor mediated cytostatic activities. Transforming growth factor-1 (TGF-1) inhibits the proliferation of many other cell types, such as epithelial, hematopoietic and endothelial cells. METHODS: We investigated the effects of tamoxifen on the growth of 7,12-dimethylbenz(a)anthracene (DMBA)-induced rat mammary tumors and the expression of cyclin D1, cyclin E, p21Cip1, and p27Kip1 by performing immunohistochemistry and Western blot analysis, and studied whether TGF-1 injection amplified the effects of TAM. When tumor size reached between 10-15 mm in the largest dimension, the rats were divided into 3 groups: DMBA-control group (n=12), DMBA-TAM group (n=14) and DMBA-TAM plus TGF-1 group (n=5). RESULTS: The consecutive administration of TAM markedly decreased the tumor development compared with the DMBA-control group. The DMBA-TAM and DMBA-TAM plus TGF-1 groups showed decreased expression of bromodexoyuridine, cyclin D1, cyclin E, and p21Cip1 when compared with those of the DMBA-control group. On the other hand, the labeling index of p27Kip1 was higher in the DMBA-TAM plus TGF-1 group than in the DMBA-control group. CONCLUSION: TAM suppresses tumor development, which may be associated with down-expression of cyclin D1 and cyclin E, and overexpression of p27Kip1, and addition of TGF-1 does not influence tumor development treated by TAM.
Animals ; Blotting, Western ; Breast ; Cell Cycle ; Cyclin D1* ; Cyclin E* ; Cyclins* ; Endothelial Cells ; Estrogens ; Hand ; Immunohistochemistry ; Rats* ; Receptors, Estrogen ; Robenidine ; Tamoxifen* ; Transforming Growth Factor beta

The Kawasaki disease(Mucocutaneous lymph node syndrome) has been reported worldwide since the first description in 1967 in Japan. Approximately 20% of the children with untreated Kawasaki disease are believed to develop coronary artery aneurysm of which 2-3% progress to coronary artery stenosis. The early mortality of Kawasaki disease is low, resulting from coronary complications, mainly aneurysmal thrombosis with myocardial infarction. The purpose of this article is to report three cases of sudden deaths who died of cardiac sequelae of Kawasaki disease. Case 1 was a 9 year old male who died of cardiac tamponade caused by ruptured left coronary artery with features of vasculitis and aneurysmal dilatation. Case 2 was a 20 year old male who had been healthy and died suddenly and unexpectedly. At autopsy, the heart showed cardiomegaly and coronary artery aneurysm with thrombus and stenosis. Case 3 was a 10 year old male who was asymptomatic. At autopsy, the heart showed coronary artery lesions including aneurysm, fibrous thickening, and calcification, and myocardial fibrosis. According to the Classification of Kawasaki disease, case 1 was considered Stage I, and cases 2 and 3 Stage IV.
Aneurysm ; Autopsy ; Cardiac Tamponade ; Cardiomegaly ; Child ; Classification ; Constriction, Pathologic ; Coronary Stenosis ; Coronary Vessels* ; Death, Sudden* ; Dilatation ; Fibrosis ; Heart ; Humans ; Japan ; Lymph Nodes ; Male ; Mortality ; Mucocutaneous Lymph Node Syndrome* ; Myocardial Infarction ; Thrombosis ; Vasculitis ; Young Adult

Cerebral cavernous angioma is a rare form of vascular malformations which is histologically composed of closely-packed, thin-walled blood vessels without neural tissue intervened. One of the most common symptoms is seizure, which is usually well-controlled by medication or surgery and known to be rarely intractable or fatal. Because sudden, unexpected death in epilepsy patients reveals generally its unclear death mechanism and negative autopsy finding in forensic pathology practice, particular attention should be paid. We recently experienced an autopsy case of 32-year-old woman who had suffered from epilepsy and showed cerebral cavernous angioma on autopsy. We report this case with literature review.
Adult ; Autopsy ; Blood Vessels ; Caves ; Central Nervous System ; Epilepsy ; Female ; Forensic Pathology ; Hemangioma ; Hemangioma, Cavernous ; Humans ; Seizures ; Vascular Malformations

Alzheimer's disease is the leading cause of dementia. We experienced a case of Alzheimer's disease who is 83-year-old woman killed by stab with a knife. She had been suffered from dementia for several years. At autopsy, the brain disclosed cortical atrophy in the frontal, temporal and parietal lobes, and hippocampus. Microscopically, many senile plaques and a few neurofibrillary tangles were observed at the cerebral cortex and hippocampus. Senile plaques were characterized by a spherical structure with or without a dense central core of amyloid, associated with dystrophic neurites. Neurofibrillary tangle was an intracellular filamentous lesion in the cell body of neuron. To our knowledge, this is a rare autopsy case in Korea, therefore, we report here-in and review the clinicopathologic features of Alzheimer's disease.
Aged, 80 and over ; Alzheimer Disease ; Amyloid ; Atrophy ; Autopsy ; Brain ; Cerebral Cortex ; Dementia ; Female ; Hippocampus ; Humans ; Korea ; Neurites ; Neurofibrillary Tangles ; Neurons ; Parietal Lobe ; Plaque, Amyloid