Journal of Pathology and Translational Medicine

Case Studies

Unsuspected systemic Epstein-Barr virus–positive T-cell lymphoma of childhood diagnosed at autopsy in a potential homicide case: Daniel J. Robbins, Erik A. Ranheim, Jamie E. Kallan; J Pathol Transl Med. 2023;57(2):123-127. Published online December 22, 2022; DOI: https://doi.org/10.4132/jptm.2022.10.31

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Systemic Epstein-Barr virus (EBV)–positive T-cell lymphoma of childhood (SETLC) is a rare, rapidly progressive, and often fatal disease of children and young adults characterized by monoclonal expansion of EBV-positive T cells in tissues or peripheral blood following infection with EBV. Its distinction from other EBV-positive T-cell lymphoproliferative disorders with overlapping features can be difficult, and particular diagnostic features may not be manifest until autopsy examination. We present the case of a 10-year-old boy with significant disability due to remote traumatic brain injury following non-accidental head trauma who died unexpectedly at home. Given the history of physical abuse and the potential for homicide charges, significant medicolegal implications arose with this case. Pathologic investigation ultimately revealed conclusive diagnostic features of SETLC including extensive proliferation of EBV-positive T cells in multiple organs. A natural manner of death was confirmed, thereby excluding delayed homicide related to complications of non-accidental head trauma.

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The ‘Oma’s of the Gammas—Cancerogenesis by γ-Herpesviruses
Anwesha Banerjee, Debashree Dass, Soumik Mukherjee, Mollina Kaul, R. Harshithkumar, Parikshit Bagchi, Anupam Mukherjee
Viruses.2024; 16(12): 1928. CrossRef

Clinically undetected plasmacytoid urothelial carcinoma of the urinary bladder with non-mass-forming metastases in multiple organs: an autopsy case: Yuya Asano, Kosuke Miyai, Shinya Yoshimatsu, Makoto Sasaki, Katsunori Ikewaki, Susumu Matsukuma; J Pathol Transl Med. 2022;56(4):217-224. Published online May 3, 2022; DOI: https://doi.org/10.4132/jptm.2022.03.15

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Abstract PDF

This case report outlines a clinically undetected urinary bladder plasmacytoid urothelial carcinoma (PUC) with multiple metastases detected at autopsy. An 89-year-old man presented with edema in the lower limbs. Pleural fluid cytology revealed discohesive carcinomatous cells, although imaging studies failed to identify the primary site of tumor. The patient died of respiratory failure. Autopsy disclosed a prostate tumor and diffusely thickened urinary bladder and rectum without distinct tumorous lesions. Histologically, the tumor consisted of acinar-type prostate adenocarcinoma with no signs of metastasis. Additionally, small, plasmacytoid tumor cells were observed in the urinary bladder/rectum as isolated or small clustering fashions. These metastasized to the lungs, intestine, generalized lymph nodes in a non-mass-forming manner. Combined with immunohistochemical studies, these tumor cells were diagnosed PUC derived from the urinary bladder. Both clinicians and pathologists should recognize PUC as an aggressive histological variant, which can represent a rapid systemic progression without mass-forming lesions.

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Carcinomatous Meningitis and Hydrocephalus in Plasmacytoid Urothelial Carcinoma of the Urinary Bladder With Extremely Elevated CA19-9 Levels
Fumiaki Henmi, Kayako Ukai, Atsuhito Nakayama, Yutaka Takazawa, Yoshikazu Uesaka
Cureus.2024;[Epub] CrossRef
Current Advances in the Management of Nonurothelial Subtypes of Bladder Cancer
Evangelia Vlachou, Burles Avner Johnson, Ezra Baraban, Rosa Nadal, Jean Hoffman-Censits
American Society of Clinical Oncology Educational Book.2024;[Epub] CrossRef
Plasmacytoid urothelial carcinoma: a multidisciplinary approach to the diagnosis and management
Marcus Zorovich, Jude Khatib, Aysha Mubeen, Katie Gardner, Nayana Patel
Abdominal Radiology.2024;[Epub] CrossRef
Divergent Histology in Bladder Cancer: What We Need to Know?
Shashank Agrawal, Arun Ramdas Menon, Ginil Kumar Pooleri
UroCancer Clinics of India.2024; 2(2): 100. CrossRef

Review

Primary Age-Related Tauopathy: An Elderly Brain Pathology Frequently Encountered during Autopsy: Daru Kim, Hyung-Seok Kim, Seong-Min Choi, Byeong C. Kim, Min-Cheol Lee, Kyung-Hwa Lee, Jae-Hyuk Lee; J Pathol Transl Med. 2019;53(3):159-163. Published online March 19, 2019; DOI: https://doi.org/10.4132/jptm.2019.03.14

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Abstract PDF

Due to the progressive aging of Korean society and the introduction of brain banks to the Korean medical system, the possibility that pathologists will have access to healthy elderly brains has increased. The histopathological analysis of an elderly brain from a subject with relatively well-preserved cognition is quite different from that of a brain from a demented subject. Additionally, the histology of elderly brains differs from that of young brains. This brief review discusses primary age-related tauopathy; this term was coined to describe elderly brains with Alzheimer’s diseasetype neurofibrillary tangles mainly confined to medial temporal structures, and no β-amyloid pathology.

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Transcriptional signatures of hippocampal tau pathology in primary age-related tauopathy and Alzheimer’s disease
Genevieve L. Stein-O’Brien, Ryan Palaganas, Ernest M. Meyer, Javier Redding-Ochoa, Olga Pletnikova, Haidan Guo, William R. Bell, Juan C. Troncoso, Richard L. Huganir, Meaghan Morris
Cell Reports.2025; 44(3): 115422. CrossRef
Significance of a positive tau PET scan with a negative amyloid PET scan
Carling G. Robinson, Jeyeon Lee, Paul H. Min, Scott A. Przybelski, Keith A. Josephs, David T. Jones, Jonathan Graff‐Radford, Bradley F. Boeve, David S. Knopman, Clifford R. Jack, Ronald C. Petersen, Mary M. Machulda, Julie A. Fields, Val J. Lowe
Alzheimer's & Dementia.2024; 20(3): 1923. CrossRef
TDP-43 Is Associated with Subiculum and Cornu Ammonis 1 Hippocampal Subfield Atrophy in Primary Age-Related Tauopathy
Hossam Youssef, Rodolfo G. Gatto, Nha Trang Thu Pham, Ronald C. Petersen, Mary M. Machulda, R. Ross Reichard, Dennis W. Dickson, Clifford R. Jack, Jennifer L. Whitwell, Keith A. Josephs
Journal of Alzheimer’s Disease.2024; 99(3): 1023. CrossRef
Clinical Significance of the Plasma Biomarker Panels in Amyloid-Negative and Tau PET-Positive Amnestic Patients: Comparisons with Alzheimer’s Disease and Unimpaired Cognitive Controls
Hsin-I Chang, Kuo-Lun Huang, Chung-Gue Huang, Chi-Wei Huang, Shu-Hua Huang, Kun-Ju Lin, Chiung-Chih Chang
International Journal of Molecular Sciences.2024; 25(11): 5607. CrossRef
Distinct biological property of tau in tau‐first cognitive proteinopathy: Evidence by longitudinal clinical neuroimaging profiles and compared with late‐onset Alzheimer disease
Hsin‐I. Chang, Chi‐Wei Huang, Shu‐Hua Huang, Shih‐Wei Hsu, Kun‐Ju Lin, Tsung‐Ying Ho, Hsiu‐Chuan Wu, Chiung‐Chih Chang
Psychiatry and Clinical Neurosciences.2024; 78(8): 446. CrossRef
Oligodendrocyte Dysfunction in Tauopathy: A Less Explored Area in Tau-Mediated Neurodegeneration
Moumita Majumder, Debashis Dutta
Cells.2024; 13(13): 1112. CrossRef
Hippocampal synaptic alterations associated with tau pathology in primary age-related tauopathy
Meaghan Morris, Gabrielle I Coste, Javier Redding-Ochoa, Haidan Guo, Austin R Graves, Juan C Troncoso, Richard L Huganir
Journal of Neuropathology & Experimental Neurology.2023; 82(10): 836. CrossRef
Abnormal tau in amyloid PET negative individuals
Bora Yoon, Tengfei Guo, Karine Provost, Deniz Korman, Tyler J. Ward, Susan M. Landau, William J Jagust
Neurobiology of Aging.2022; 109: 125. CrossRef
Intraneuronal sortilin aggregation relative to granulovacuolar degeneration, tau pathogenesis and sorfra plaque formation in human hippocampal formation
Juan Jiang, Chen Yang, Jia-Qi Ai, Qi-Lei Zhang, Xiao-Lu Cai, Tian Tu, Lily Wan, Xiao-Sheng Wang, Hui Wang, Aihua Pan, Jim Manavis, Wei-Ping Gai, Chong Che, Ewen Tu, Xiao-Ping Wang, Zhen-Yan Li, Xiao-Xin Yan
Frontiers in Aging Neuroscience.2022;[Epub] CrossRef
LATE: Nicht jede Demenz ist Alzheimer – Diskussion einer neuen Krankheitsentität am Fallbeispiel
Doreen Görß, Ingo Kilimann, Martin Dyrba, Sascha Nitsch, Bernd Krause, Stefan Teipel
Der Nervenarzt.2021; 92(1): 18. CrossRef
Alpha‐lipoic acid ameliorates tauopathy‐induced oxidative stress, apoptosis, and behavioral deficits through the balance of DIAP1/DrICE ratio and redox homeostasis: Age is a determinant factor
Elahe Zarini-Gakiye, Nima Sanadgol, Kazem Parivar, Gholamhassan Vaezi
Metabolic Brain Disease.2021; 36(4): 669. CrossRef
Implications for microglial sex differences in tau-related neurodegenerative diseases
Yasmine V. Doust, Anna E. King, Jenna M. Ziebell
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G protein‐coupled receptor kinases are associated with Alzheimer's disease pathology
Thais Rafael Guimarães, Eric Swanson, Julia Kofler, Amantha Thathiah
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Age and Dose-Dependent Effects of Alpha-Lipoic Acid on Human Microtubule- Associated Protein Tau-Induced Endoplasmic Reticulum Unfolded Protein Response: Implications for Alzheimer’s Disease
Elahe Zarini-Gakiye, Gholamhassan Vaezi, Kazem Parivar, Nima Sanadgol
CNS & Neurological Disorders - Drug Targets .2021; 20(5): 451. CrossRef
Primary age-related tauopathy in a Chinese cohort
Xin Wang, Lei Zhang, Hui Lu, Juan-li Wu, Hua-zheng Liang, Chong Liu, Qing-qing Tao, Zhi-ying Wu, Ke-qing Zhu
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A “Stress Test” of the 2018 NIA AA Research Criteria for Alzheimer’s Disease 
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Contemporary approaches to clinical diagnosis and treatment of tau-protein accumulation related multisystem degenerations
E.E. Vasenina, O.S. Levin
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Sporadic Creutzfeldt-Jakob Disease and Other Proteinopathies in Comorbidity
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Frontiers in Aging Neuroscience.2020;[Epub] CrossRef

Case Study

An Autopsy Case of Epstein-Barr Virus–Associated Diffuse Large B-Cell Lymphoma of the Central Nervous System in an Immunocompromised Host: Sun-Young Park, Seong Ik Kim, Hannah Kim, Yoojin Lee, Sung-Hye Park; J Pathol Transl Med. 2018;52(1):51-55. Published online August 4, 2017; DOI: https://doi.org/10.4132/jptm.2017.01.23

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Abstract PDF

Lymphomas arising in the central nervous system (CNS) of immunocompromised hosts are most commonly non-Hodgkin’s lymphomas and are highly associated with Epstein-Barr virus (EBV). Here we report an autopsy case of EBV-associated CNS diffuse large B-cell lymphoma (DLBCL) in a host suffering from systemic lupus erythematosus who underwent immunosuppressive therapy. After autopsy, EBV-associated CNS DLBCL as well as pulmonary mixed aspergillosis and Pneumocystis jirovecii pneumonia were added to the cause of clinical manifestations of complicated pneumonia and cerebral hemorrhage in this immunocompromised patient. In conclusion, complex disease processes were revealed by autopsy in this case, indicating that the clinicopathological correlations observed through autopsy can improve our understanding of disease progression and contribute to the management of similar patients in the future.

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Primary central nervous system lymphoma in neuropsychiatric systemic lupus erythematosus: case-based review
Takanori Ichikawa, Yasuhiro Shimojima, Dai Kishida, Tomoki Kaneko, Yoshiki Sekijima
Rheumatology International.2021; 41(5): 1009. CrossRef

Case Report

The Wolf-Hirschhorn Syndrome in Fetal Autopsy: A Case Report.: Sun Ju Byeon, Jae Kyung Myung, Sung Hye Park; Korean J Pathol. 2011;45:S15-S19.; DOI: https://doi.org/10.4132/KoreanJPathol.2011.45.S1.S15

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Abstract PDF

Wolf-Hirschhorn syndrome (WHS) is a malformation associated with a hemizygous deletion of the distal short arm of chromosome 4. Herein we report a fetal autopsy case of WHS. A male fetus was therapeutically aborted at 17(+0) weeks gestational age, due to complex anomaly and intrauterine growth retardation, which were found in prenatal ultrasonography. His birth weight was 65 g. Mild craniofacial dysmorphism, club feet, bilateral renal hypoplasia, edematous neck, and left diaphragmatic hernia of Bochdalek were found on gross examination. On GTG-banding, the fetus revealed 46,XY,add(4p) karyotype and the mother revealed 46,XX,t(4;18)(p16;q21.1), with normal karyotype of the father. Array comparative genomic hybridization performed on the autopsied lung tissue revealed loss of 4p16.2-->4pter and gain of 18q21.1-->18qter, suggesting 46,XY,der(4)t(4;18)(p16.2;q21.1)mat of fetal karyotype. This suggested deletion of 4p, compatible with WHS inherited from the mal-segregation of a maternal translocation t(4;18)(p16.2;21.1). Therefore, our fetus was both genotypically and phenotypically compatible with WHS.

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A Case of Wolf-Hirschhorn Syndrome with Periventricular Nodular Heterotopia Presenting with Status Epilepticus
Bong Sul Suh, Keun Hyeok Ko, Kon Hee Lee, Tae-Jung Sung
Neonatal Medicine.2015; 22(4): 233. CrossRef
Rhabdoid glioblastoma is distinguishable from classical glioblastoma by cytogenetics and molecular genetics
Sun-Ju Byeon, Hwa Jin Cho, Hae Woon Baek, Chul-Kee Park, Seung-Hong Choi, Se-Hoon Kim, Hee Kyung Kim, Sung-Hye Park
Human Pathology.2014; 45(3): 611. CrossRef

Original Article

The Significance of Ventricular Volume in the Evaluation of Secondary Cardiomyopathy at Autopsy.: Joo Young Na, Byung Woo Min, Yeong Hui Kim, Seung Hyun Chung, Young Jik Lee, Hyung Seok Kim, Jong Tae Park; Korean J Pathol. 2011;45(4):336-347.; DOI: https://doi.org/10.4132/KoreanJPathol.2011.45.4.336

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Abstract PDF: BACKGROUND
The weight, shape and consistency of the heart, and the thickness of the ventricular wall are used as parameters for evaluating postmortem heart and diagnosing cardiomyopathy at autopsy.
METHODS
The weight and volume of the ventricles and the thickness of the left ventricular wall of 58 hearts were measured and analyzed.
RESULTS
In the group of dilated hearts, the ventricular weight, ventricular volume, ventricular volume/ventricular weight, and left ventricular volume/right ventricular volume increased, whereas ventricular wall thickness decreased. In the group of hypertrophied hearts, the ventricular weight, ventricular volume, and thickness of the ventricular wall increased but ventricular volume/ventricular weight and left ventricular volume/right ventricular volume did not change significantly. In the group of undetermined hearts, it was later found that four of the cases should have been included in the dilated heart group and another two cases in the hypertrophied heart group.
CONCLUSIONS
In addition to conventional methods, the measuring ventricular volume is useful for evaluating a postmortem heart and may suggest postmortem differential diagnoses of dilated or hypertrophied forms of secondary cardiomyopathies.

Case Report

Intraabdominal Heterotopic Thymus: Report of an autopsy case.: Hye Seung Han, Je Geun Chi; Korean J Pathol. 1996;30(11):1057-1059.

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Abstract PDF: Ectopic thymus results from the aberrant migration of thymic tissue and is mostly present in the mediastinum, the base of the skull, the tracheal bifurcation and the cervical region. We report the first case of intraabdominal heterotopic thymus incidentally detected and attached to the liver without associated anomalies. This fetus was sent to the Department without any clinical information. The fetus was small for gestational age, but had no external abnormalities. Each organ showed normal development except for the liver. The liver weighed 6 gm(normal 17.064+/-4.143 gm). Gray white heterotopic thymus was attached to the superior surface of the liver in the subdiaphragmatic area. It measured 1.1x0.6x0.5 cm. There was no diaphragmatic defect. The cervical thymic tissue near the thyroid was small and measured 0.2 gm(normal 0.927+/-0.485 gm). There was no thymic tissue in the anterior superior mediastinum. The histologic features of the heterotopic thymus were identical to the orthotopic thymus showing features appropriate for the gestational age. The origin of this subdiaphragmatic heterotopic thymus is speculated.

Original Articles

Congenital Anomalies Observed by Autopsies at the Seoul National University Children's Hospital.: Jin Haeng Chung, Jeong Wook Seo, Chong Jai Kim, Chul Woo Kim, Je G Chi; Korean J Pathol. 1997;31(2):93-99.

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Abstract PDF: A retrospective analysis was performed on the 968 cases of fetal or pediatric autopsies over five year period (1990-1994), at the Seoul National University Children's Hospital. Age/mode distribution of cases were artificial abortus(30.6%), spontaneous abortus(12.0%), stillbirth(21.9%), neonates(29%), infants(2.8%) and children(0.9%). Male/female ratio was 1.21. Overall incidence of congenital anomalies was 60.8% and 34.0% of all cases had anomalies involving multiple organ systems. Percentage of cases with any anomaly was 71.6% in artificial abortus, 35.3% in spontaneous abortus, 59% in still births, 65.5% in neonates and 38.9% in infant and children. Common organ systems involved were the cardiovascular system (39.0%), musculoskeletal system (23.6%), nervous system (22.6%), gastrointestinal system (19.9%), and urinary system (14.6%). From these results, we found that the congenital anomalies were most significant diseases of the perinatal period and the cardiovascular anomalies were the most common anomalies of them.

Congenital Cystic Disease of the Kidney overview and a classification.: Mee Joo, Yeon Mee Kim, Chong Jai Kim, Yeon Lim Suh, Jeong Wook Seo, Je Geun Chi; Korean J Pathol. 1997;31(3):233-243.

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Abstract PDF: The congenital renal cystic disease encompasses a complex group of pathologic and clinical entities. We retrospectively reviewed 42 cases of congenital renal cystic lesions classified into four Potter types in a series of 2,063 consecutive autopsies from 1981 to 1996. According to our study based on morphologic, clinical, genetic features and associated anomalies, type I and III are relatively compatible with Potter's original definition. However, it was reasonable that type II and IV are classified to the same group because of: 1) very similar histologic findings representing dysplastic kidney, 2) many associated anomalies, 3) no evidence of inheritance, and 4) presence of a combined type. Syndrome associated cysts, such as Meckel-Gruber syndrome, were also separately classified. If the dysplastic evidence was insufficient for diagnosis to the dysplastic kidney in type II and IV, then these cases would be better classified into a cystic disease associated with congenital hydronephrosis. We propose a classification of the congenital cystic disease of the kidney to be: 1) dysplastic kidney, 2) cystic disease associated with congenital hydronephrosis, 3) polycystic kidney, and 4) syndromic cystic disease.

Case Reports

Acute Interstitial Pneumonia (Hamman-Rich Syndrome): An Autopsy Case.: Han Kyeom Kim, Ae Ree Kim, Min Ji Jeoung, Won Hee Seo, Jee yeoun Lee, Su Hyun Park; Korean J Pathol. 1997;31(4):366-374.

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Abstract PDF: Acute interstitial pneumonia is a fulminant disease of unknown etiology that usually occurs in a previously healthy person and produces the histologic findings of the organizing phase of diffuse alveolar damage. We experienced an autopsy case of acute interstitial pneumonia of unknown etiology. The patient was a 48 year old man who had been healthy and had not been exposed to organic dusts or other toxic materials. The chief complaints represented were dyspnea and a dry cough for several weeks before hospitalization, and the chest radiographs showed bilateral interstitial infiltrates. Patchy consolidation of air space was also identified and ground-glass attenuation similar to those described in ARDS was detected on high-resolution computed tomography. Steroid pulse therapy, mechanical ventilation, and antibiotics for superimposed bacterial infection were performed, but the symptoms did not improve and the patient died of generalized respiratory insufficiency and severe hypoxemia 2 1/2 months after hospitalization. At autopsy the macroscopic and microscopic findings were confined mainly to the lungs. On the whole, both lungs were firm in consistency and the external surface showed a cobblestone appearance. The cut surface showed almost complete replacement of the normal lung parenchyma with gray to yellow fibrous tissue with a little residual functional area remaining. The pathology of both open lung biopsy and autopsy tissue showed marked hyperplasia of type II pneumocytes, hyaline membrane formation, thickening of the alveolar wall due to extensive fibroblast proliferation, and relatively abundant young collagen deposition in the interstitium. An immunohistochemical stain for cytokeratin revealed epithelial hyperplasia and showed that the alveolar spaces were markedly shrunken by fibrous tissue.

A Sialoblastoma Associated with a Hepatoblastoma: An autopsy case report.: Sun Lee, Youn Wha Kim, Jae Hoon Park, Yong Koo Park, Ju hie Lee, Moon Ho Yang; Korean J Pathol. 1997;31(11):1222-1226.

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Abstract: Sialoblastoma is defined as a rare, congenital or perinatal, aggressive and potentially low-grade malignant, basaloid gland neoplasm that occurs in the major salivary glands. We report a case of a congenital sialoblastoma in the left parotid gland, associated with a hepatoblastoma in a female infant. At birth, a huge mass in the left neck and hepatomegaly were noted. Grossly, the neck mass was well-circumscribed, lobulated and gray tan. Microscopically, the tumor was composed of basaloid aggregates of primitive uniform cells with focal ductal differentiation. The liver showed a well-circumscribed gray tan tumor with extensive hemorrhage and cystic change. Microscopically, the liver revealed characteristic findings of hepatoblastoma. To the best of our knowledge, this is the first case of coexistence of a congenital sialoblastoma and a hepatoblastoma, reported in the literature.

Original Article

The Current Practice of the Autopsy Services and the Autopsy Records at the Seoul National University Hospital.: Jeong Wook Seo, Yoon Sung Lee, Je Geun Chi, Ghee Young Choe, Soong Deok Lee, Chong Jai Kim, In Ae Park, Woo Ho Kim, Ja June Jang, Chul Woo Kim, Seong Hoe Park, Jung Bin Lee, Hyun Soon Lee, Yong Il Kim, Eui Keun Ham, Sang Kook Lee; Korean J Pathol. 1998;32(6):453-459.

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Abstract: This study outlines the current status of the autopsy practice and the medical records for autopsies at the Department of Pathology, Seoul National University Hospital. Total number of autopsy cases from 1954 to 1995 was 3,131. Adults aged over 17 were 371 cases and children were 2,515 cases. The demographic data in 245 cases was not available. The number of adult autopsies and its proportion among total number of autopsies during 10-year periods decreased from 144 cases (40%) during the 10-year-period from 1956 to 52 cases (3%) during the 10-year-period from 1986. The number of children cases during the same period groups increased slightly from 210 cases (58%) to 393 cases (25%). But the number of fetal cases increased rapidly from 7 cases (2%) to 1,146 cases (72%). Among fetal autopsies the proportion of fetuses died earlier than 24 weeks of gestation increased and this figure exceeds that of fetuses that died later than 24 weeks of gestation from 1992. Forty percent of the cases were submitted from the clinical departments of the Seoul National University Hospital but the remainders were referred from 73 hospitals. Final autopsy diagnoses were analysed according to the Korean Standard Classification of Disease (KCD)-3 coding system and by searching key words for all cases. Common diagnoses as coded among cases from 1990 were P9, P0, P2, Q2 and Q0. Common diseases by key words for adult cases were liver disease, tuberculosis and pneumonia. Common diseases for children cases were pneumonia, hyaline membrane disease, meningitis and tuberculosis. Through this study we could show the importance of autopsy services for fetuses. We could also establish a regular registration system for autopsies at general hospitals.

Case Reports

Secondary Hemochromatosis in a Patient with Aplastic Anemia: An autopsy case report.: Seung Mo Hong, Ghil Suk Yoon, Young Min Kim, Hojung Lee, Gyeong Hoon Kang, On Ja Kim; Korean J Pathol. 1998;32(8):608-612.

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Abstract: We report an autopsy case of secondary hemochromatosis associated with multiple frequent blood transfusion for the treatment of aplastic anemia. A 23-year-old man had been diagnosed as having aplastic anemia at the age of 13. He received a whole blood transfusion, about 1280 ml, every month during the past 10 years. Recently he developed diabetes mellitus and a congestive heart failure. The autopsy revealed that multiple organs were affected by secondary hemochromatosis, including the liver, heart, pancreas, spleen, bone marrow, stomach, thyroid gland, adrenal glands, and testes. The lungs and liver showed gross and microscopic findings consistent with a congestive heart failure in addition to hemochromatosis. The details are presented. This is a case of rare secondary hemochromatosis occurring in a young man and presenting the classic histopathologic changes indistinguishable from those of primary hemochromatosis.

Fatal Strongyloidiasis with Residual Cutaneous Larvae: An Autopsy Case Report.: Na Rae Kim, Dae Su Kim, Joungho Han, Dong Cheol Choe; Korean J Pathol. 2002;36(4):266-270.

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Abstract PDF: Strongyloides stercoralis hyperinfection in immunocompromised patients is difficult to control due to delayed diagnosis, especially in nonendemic areas. A 70-year-old diabetic woman came in with an intermittent diarrhea. She received massive steroid therapy for a week under the impression of idiopathic gastrointestinal eosinophilic syndrome. Diagnosis of strongyloidiasis was made by demonstration of filariform larvae in two repeated sputum specimens two months later. Despite massive administration of albendazole, she died of diabetic ketoacidosis and septic shock. Autopsy revealed a diffusely thickened bowel wall, superimposed invasive pulmonary aspergillosis and the near total destruction of the lungs. Filariform larvae were detected only in the cutaneous lesions. It was presumed that Strongyloides stercoralis hyperinfection was caused by autoinfection in the patient's immunosuppressed status. The present case has two clinical importances; first, intensive treatment with albendazole could erradicate parasites except for the skin but sepsis presumably occurred due to a hypersensitivity reaction against liberated endotoxins during the death of the parasites by the drug. Second, cutaneous parasitic lesion resists the intensive antihelminthic treatment in an immunocompromised host.

Partial Trisomy 13 (Patau Syndrome): An Autopsy Report.: Kyung Chan Choi, Hyung Sik Shin, Young Euy Park, Jung Lae Seo, Sung Won Lee, Eu Sun Ro, Yong Pil Kim; Korean J Pathol. 2002;36(5):338-340.

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Abstract PDF: Trisomy 13 (Patau syndrome) is rare and usually fatal if contracted within the first six months of life. We report a case of a male fetus with the typical features of Patau syndrome. He was terminated in a 27-year-old mother at the gestational age of 32+4 weeks. In chromsomal analysis by GTG banding technique, the karyotype of the fetus was 46,XY,rec(13) dup(13q)inv(13)(p13q21.3)(=partial trisomy 13q); and his mother's karyotype was 46,XX, inv(13)(p13q21.3)(=pericentric inversion). His father had normal karyotype, 46,XY. Ultrasonography showed fluid-nature content, which was occupying the entire intracranium, but preserving the brain stem and cerebellum. Postmortem examination disclosed holoprosencephaly, hydrocephalus, a single nostril, bilateral anophthalmia, ventricular septal defect, and a single umbilical artery.

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