Autopsy and Case Reports (Autops Case Rep) is an Open Access online medical journal published on continuous flow by the Hospital Universitário of the Universidade de São Paulo (HU USP), under the online ISSN 2236-1960. Since 2018, Autopsy and Case Reports publishes using a continuous publication workflow, allowing the immediate posting of articles in their final form on the journal website as soon as they are ready for publication. Accepted articles will be published as Open Access and distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium provided the original work is properly cited. Indexing Bibliographic Databases PubMed Central LILACS SciELO Scopus Indexing Directories Directory of Open Access Journals Redalyc Latindex Sumários.org Diadorim Redib Archiving and preservation All articles published are indexed and deposited in full text version for preservation in PubMed Central® (PMC) (https://www.ncbi.nlm.nih.gov/pmc/journals/2811), SciELO Brasil (https://www.scielo.br/autopsy) and at Revistas USP repository of Universidade de São Paulo (http://www.revistas.usp.br/wp/?p=76).
Universidade de São Paulo. Hospital Universitário
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Melanoma arising in the hard palate is an exceedingly rare entity, comprising a minute fraction of all melanoma cases. The absence of specific clinical signs often leads to delayed diagnosis and subsequent challenges in treatment planning. We discussed the existing literature to elucidate the epidemiology, risk factors, and molecular pathways associated with melanoma of the hard palate. Additionally, we discuss the importance of a multidisciplinary approach involving dermatologists, otolaryngologists, oncologists, and pathologists in diagnosing and managing this condition. A 62-year-old male patient presented with a pigmented lesion on the hard palate mucosa, which was initially asymptomatic but gradually increased in size. Biopsy revealed melanoma, confirmed through immunohistochemical staining. Staging investigations indicated a metastatic disease. Surgery followed by adjuvant therapy was planned; however, he was lost for the follow-up. Melanoma originating from the hard palate mucosa is exceedingly rare, posing diagnostic and therapeutic challenges. Early detection, accurate diagnosis, and prompt multidisciplinary management are crucial for optimal outcomes. This case underscores the importance of comprehensive evaluation and tailored treatment strategies in patients with uncommon mucosal melanomas.
Copyright (c) 2024 Zahed Ali Qamer, Monika Maharjan, Kranthi Kumar Jandrasupalli, Bommisetty Lokesh, Amit Tyagi, Ravi Hari Phulware https://creativecommons.org/licenses/by/4.0
Explant pathology in Biliary Atresia post Kasai procedure: a tale of two livers
Biliary atresia (BA) is a progressive inflammatory cholangiopathy of infancy that results in fibrous obliteration of the extrahepatic and intrahepatic bile ducts. In untreated patients, this leads to biliary-type cirrhosis within the first two years of life. Timely diagnosis of BA with a lack of significant hepatic fibrosis is critical and surgical drainage (Kasai procedure) within the first two months of life is the initial treatment modality with the highest success rate. Ultimately, liver transplantation is required due to surgical drainage complications, such as recurrent cholangitis, failure to thrive, and portal hypertension (PHTN). Histopathological findings of hepatectomy specimens after failed and successful Kasai procedures are vastly different depending on the subsequent course of liver disease. Bile flow is inadequate following a failed Kasai procedure with rapid development of biliary cirrhosis. Explants from patients with successful Kasai procedure may show cholestatic (recurrent cholangitis), vascular (obliterative venopathy, regenerative hyperplasia, and PHTN), or an interplay of both cholestatic and vascular abnormalities. Pathologists need to be aware of explant histopathology (post-successful Kasai procedures) with a clinical course dominated by PHTN for precise documentation of vascular abnormalities.
Copyright (c) 2024 Sunayana Misra, Sonia Badwal, Shashi Dhawan, Arpita Mittal, Naimish Mehta, Nishant Wadhwa, Arjun Maria https://creativecommons.org/licenses/by/4.0
Schistosomiasis is an infectious disease caused by parasitic flatworms of the genus Schistosoma. The species Schistosoma mansoni is associated with hepatosplenic disease. Schistosomiasis involving the gallbladder alone is highly unusual, with a few cases reported. Herein, we present the case of a woman from a region with endemic schistosomiasis who presented with a painless solid lesion and wall thickening of the gallbladder. She underwent an uneventful laparoscopic cholecystectomy. Microscopic examination of the surgical specimen revealed Schistosoma mansoni eggs associated with granulomatous reaction, leading to the diagnosis of schistosomiasis of the gallbladder, prompting subsequent treatment with praziquantel and follow-up. This case illustrates the importance of suspicion for this diagnosis in endemic areas, as it can be misdiagnosed with malignancy if not examined microscopically. Complications and treatment strategies are poorly characterized for the few cases of schistosomiasis; reporting this case can serve as a helpful reminder of a rare presentation of this disease.
Copyright (c) 2024 Gabriela Del Angel-Millán, José Jukemura, Júlia Bragion Bicudo, Ricardo Jureidini, André Luís Montagnini, Vanderlei Segatelli, Thiago Costa Ribeiro, Guilherme Naccache Namur, Thiago Nogueira Costa, Lucas Cata Preta Stolzemburg, Emilio Elias Abdo, Ulysses Ribeiro Júnior, Paulo Herman, Estela Regina Ramos Figueira https://creativecommons.org/licenses/by/4.0
Systemic amyloidosis: an aggressive evolution in a patient with relapsing polychondritis and monoclonal gammopathy of undetermined significance (MGUS) undergoing peritoneal dialysis
Herein, we report the case of primary amyloidosis with multi-organ involvement in a female patient in her 50s. The patient had a history of relapsing polychondritis, chronic kidney disease, and monoclonal gammopathy of undetermined significance (MGUS). The clinical manifestations included neuropathic pain, sensorimotor polyneuropathy, intrahepatic cholestatic liver injury, gastrointestinal symptoms, dysautonomia, and myocardial thickening. Initial histologic evaluations of the abdominal fat pad aspirate and bone marrow biopsy were negative for amyloid deposition. However, due to a high index of suspicion, a second bone marrow biopsy was performed, confirming the presence of the amyloid protein. Given the patient's complex medical history, other types of amyloidosis, such as AA amyloidosis, AL amyloidosis, and ß2-microglobulin amyloidosis, should also be considered as differential diagnoses. The type of amyloid protein was subsequently identified through laser microdissection of amyloid fibrils followed by liquid chromatography–tandem mass spectrometry as AL-lambda (amyloid light-chain) amyloidosis. The patient presented unfavorable evolution, with progressive dysautonomia, being admitted to the ICU, culminating in refractory circulatory shock, and undergoing an empirical broad-spectrum antibiotic therapy. After a few days, she presented pulseless ventricular tachycardia, culminating in her death, before undergoing specific treatment. This article highlights the crucial role of precise identification in guiding appropriate therapeutic strategies for this complex, yet potentially severe, diseases.
Copyright (c) 2024 Thiago Cavalcanti Matos, William George Giusti Fischer, Rosa Maria Rodrigues Pereira, Andre Silva Franco https://creativecommons.org/licenses/by/4.0
Cytological diagnosis of hyaline-vascular type of Castleman disease
Castleman disease (CD) is a rare, benign lymphoproliferative disorder, mostly involving the mediastinal lymph nodes, but can occur wherever lymphoid tissue is found. With only a few published case reports, there needs to be more literature on its cytological findings. We report the case of a 63-year-old female presenting with left upper cervical swelling. Fine needle aspiration cytology smears showed variably sized lymphoid follicles with diminished germinal centers, prominence of follicular dendritic cells, and capillaries traversing some of the follicles. The possibility of a hyaline-vascular type of Castleman disease was suggested. Histopathology confirmed the cytological diagnosis. The index case is being presented to discuss the cytological features of the CD along with its histological and immunohistochemical correlation.
Copyright (c) 2024 Deepa Rani, Anupam Varshney, Kanika Rastogi https://creativecommons.org/licenses/by/4.0
Multicystic encephalopathy: an ultimate manifestation of ischemic-hypoxic injury
Multicystic encephalopathy is a rare neurological finding characterized by the appearance of multiple cystic or cavitary lesions as the result of repetitive episodes of hypoxic-ischemic injury in neonates and infants. We present a rare case of multicystic encephalopathy in a 3-month-old male, born at 34 weeks with Tetralogy of Fallot and multiple comorbidities. Gross examination of the brain during the autopsy revealed multiple irregular cystic lesions and distortion of the brain parenchyma. This case report highlights the uniqueness of multicystic encephalopathy and offers an extensive review of the existing literature, including etiology, clinical presentation, and histopathologic findings.
Copyright (c) 2024 Vielka Fernandez Aragones, Amilcar Castellano-Sanchez, Gabriel Chamyan, Darline Santana-Acosta https://creativecommons.org/licenses/by/4.0
Stealth cryptococcus in an immunocompetent patient
Cryptococcosis occurs primarily in immunocompromised patients. It is difficult to suspect in an immunocompetent patient presenting with a headache. The clinical manifestations of cryptococcosis can be subtle in a patient whose immune system is responding, but inadequate. This is the report of a case of fatal cryptococcosis initially misdiagnosed as a sinus headache on the basis of a telephone call, and then misdiagnosed as aseptic meningitis on the basis of mild findings and negative cerebrospinal fluid cultures. Autopsy revealed unsuspected severe cryptococcal meningoencephalitis. Cerebrospinal fluid nuclear acid amplification (NAA) panels including Cryptococcus should enable the diagnosis of unsuspected cryptococcal meningitis in most cases, but can be false positive, which could be adjudicated by cryptococcal antigen and culture. It will remain important to test for cryptococcal antigen and to maintain a broad differential diagnosis for all patients with meningitis.
Copyright (c) 2024 Emily Ryan, Gia Jackson, Larry Nichols https://creativecommons.org/licenses/by/4.0
Chondroblastic Osteosarcoma of proximal tibia
Chondroblastic osteosarcoma is a unique form of osteosarcoma defined by malignant cells producing osteoid and cartilaginous matrix.1,2 While osteosarcoma is an uncommon disease, accounting for less than 1% of all cancers, chondroblastic osteosarcoma accounts for 25-30% of osteosarcoma occurrences.2,3 It commonly affects the metaphyseal areas of long bones, particularly the distal femur, proximal tibia, and proximal humerus.2 This discussion aims to evaluate the existing literature on chondroblastic osteosarcoma of the upper tibia, focusing on significant findings, diagnostic problems, treatment methods, and results. Patients with chondroblastic osteosarcoma of the upper tibia typically present with nonspecific symptoms such as localized pain, swelling, and restricted range of motion.3,4 In some circumstances, pathological fractures can occur, causing symptoms to worsen suddenly. However, due to the deep-seated nature of the tumor within the bone, clinical discovery may be delayed, resulting in advanced disease at diagnosis.1,3 Chondroblastic osteosarcoma is diagnosed based on clinical, radiographic, and histological findings. Radiographically, the tumor typically appears as an aggressive lytic lesion with areas of mineralization and cortical damage.4,5 However, identifying chondroblastic osteosarcoma from other bone tumors, such as chondrosarcoma or Ewing sarcoma, can be difficult based only on imaging. Histopathological analysis of a biopsy specimen is required for a definitive diagnosis, which reveals the presence of osteoid and cartilaginous matrix generated by malignant cells.2,3 The cornerstone of treatment for upper tibial chondroblastic osteosarcoma is multimodal therapy, which includes neoadjuvant chemotherapy, surgical resection, and adjuvant therapy.1,2 Neoadjuvant chemotherapy seeks to shrink the tumor, reduce its size, and eliminate micrometastatic illness.3 Surgical excision with wide margins is required to achieve local control and reduce the chance of recurrence. Adjuvant chemotherapy can be given postoperatively to target residual illness and avoid distant metastases.4,5 Despite breakthroughs in multimodal therapy, the prognosis for chondroblastic osteosarcoma remains uncertain, especially in cases of advanced disease at presentation or insufficient surgical resection margins.2 The overall survival rate varies according to tumor stage, histological grade, treatment response, and the occurrence of metastases.4 Long-term follow-up is required to check for cancer recurrence and late treatment effects, such as the development of second malignancies or treatment-related problems.1,5 More studies are needed to determine the molecular pathways behind chondroblastic osteosarcoma carcinogenesis and progression.3,4 This could help develop targeted therapy tailored to the precise genetic abnormalities and signaling pathways involved in the disease. Furthermore, prospective research examining novel treatment techniques and predictive biomarkers is needed to increase therapy efficacy and patient outcomes.1,2 Chondroblastic osteosarcoma of the upper tibia is challenging to diagnose and treat because of its rarity and anatomical position.4 A multidisciplinary strategy that includes precise diagnosis, neoadjuvant chemotherapy, surgical resection, and adjuvant therapy is critical for optimizing results in these patients.1 Long-term follow-up is required to check for illness recurrences and provide timely intervention if warranted. This example highlights the significance of comprehensive management measures in the treatment of chondroblastic osteosarcoma.4,5 Figure 1 refers to a 13-year-old female patient who presented to our hospital complaining of pain and swelling in the right knee region for three months. There was no history of trauma, weight loss, or anorexia. On inspection, the right knee showed diffuse swelling of 20 x 20 cm, with no engorged veins, open wound, or discharge. On palpation, there was a local rise in temperature with severe tenderness, hard consistency, and diffuse margin in the right knee. The X-ray was consistent with a lytic sclerotic epiphysial-metaphyseal lesion of the proximal tibia, which had a large soft tissue component breaching the cortex. A computed tomography angiogram (CT angiogram) shows a heterogeneously enhancing expansile lytic destructive lesion with aggressive periosteal reaction seen over the meta-diaphyseal region of the upper end of the right tibia reaching up to epiphysis and involving joints. A large heterogeneously enhancing lobulated soft tissue component with osteoid matrix and calcific foci measuring 11 x 13 x 14 cm seen reaching up to fascia was depicted post-contrast. Contrast-Enhanced Magnetic Resonance Imaging (CEMRI) was consistent with an aggressive lesion involving the proximal epi-metaphyseal region of the right tibia with intra-articular extension and invasion to adjacent structures. A biopsy of the proximal tibial lesion showed features of dedifferentiated osteosarcoma. Subsequently, the patient was operated on for the above-knee amputation without any complications. Microscopic examination of the proximal tibial lesion shows a cellular tumor infiltrating bone and soft tissue. Tumor cells exhibited moderate to marked pleomorphism, including vesicular nuclei, prominent nucleoli, and moderate cytoplasm. Lacy-like osteoid material was seen between tumor cells. There were frequent mitoses but no necrosis. The cartilage nests and lobules showed enhanced cellularity, nuclear atypia, and osteoid matrix material revealed histomorphological features of Chondroblastic osteosarcoma. The tumor did not involve all the resection margins. The patient had an uneventful postoperative recovery. The patient was scheduled for regular follow-up to monitor disease progression with imaging studies to detect any local recurrence or metastasis signs. Figure 1 A – Gross view of the above knee amputation showing a greyish faint white tumor in the proximal tibia (scale bar = 14 cm); B – shows a grey-white infiltrative tumor involving the upper end of the proximal tibia (scale bar = 10 cm), C - shows islands of osteoid matrix within the cartilaginous area. The periphery of the cartilaginous areas shows condensation and spindling of the tumor cells (H&E x100); C – shows areas of osteoid production with spindling of the tumor cells (H&E x200); D – shows cartilaginous differentiation of the tumor with foci of osteoid production in this chondroblastic osteosarcoma (H&E x200).:
Copyright (c) 2024 Ravi Hari Phulware, Kaashvi Gupta, Gaurav Rajendra Shirsath, Mohit Dhingra https://creativecommons.org/licenses/by/4.0
Large atypical parathyroid tumor - a diagnostic conundrum
Atypical parathyroid tumor (APT) is a rare neoplasm of the parathyroid gland, which shows atypical cytological or architectural features and lacks definite diagnosis criteria for malignancy. These cases can cause diagnostic challenges owing to their rarity and similarity with thyroid neoplasm on imaging and fine needle aspiration cytology. Also, differentiating APT from giant parathyroid adenoma or parathyroid carcinoma can be challenging based on clinical, imaging or cytological features. A 49-year-old male presented with clinical features of hyperparathyroidism. On laboratory evaluation, his serum calcium and serum parathyroid hormone was elevated. Imaging studies suggested a possibility of left inferior parathyroid neoplasm, and fine needle aspiration cytology showed features suggestive of parathyroid neoplasm. However, exact categorization of parathyroid tumor was difficult in pre-operative work-up. Possibilities of giant parathyroid adenoma as well as parathyroid carcinoma were considered. A final diagnosis of an atypical parathyroid tumor was made after detailed histopathological evaluation given focal capsular invasion but lack of unequivocal evidence of malignancy in the resected specimen. APT is a rare neoplasm of uncertain malignant potential. Knowledge of the radiological and pathological features will be helpful in accurately identifying the lesion and avoiding misdiagnosis.
Copyright (c) 2024 Saikat Mitra, Shouvanik Satpathy, Devmalya Banerjee, Sugat Sanyal https://creativecommons.org/licenses/by/4.0
Mönckeberg calcified sclerosis preventing the use of radial artery in myocardial revascularization surgery
Figure 1 A – external and cross-sectional macroscopic view of the radial artery. Note thickening of the arterial wall; B – at histology, massive media calcification is evident (arrows), plus mild intimal fibrotic thickening (asterisks). Note internal elastic lamina (arrowheads), the internal limit of the medial layer (HE stain).: Arteriosclerosis, i.e., “hardening of the arteries”, is currently subdivided into atherosclerosis, Mönckeberg calcified sclerosis (MCS), and arteriolosclerosis. MCS was first described in 1903, characterized by calcific deposits affecting only the tunica media of large and medium-sized muscular arteries without significant luminal stenosis. However, MCS can coexist with classical atherosclerosis, characterized by atheroma plaques in the intima. MCS is rarely seen in patients under the 5th decade of life and is associated with the presence of diabetes mellitus and/or chronic kidney disease. The etiology and pathogenesis of MCS are currently poorly understood.1,2 The use of arterial grafts in myocardial revascularization surgery is associated with a lower rate of adverse cardiac events and a higher rate of patency of the grafts at 5 years of follow-up. Besides the left internal thoracic artery, the right one and the radial artery have been used, particularly when complete revascularization is pursued in patients with multivessel coronary artery disease.3 However, when planning myocardial revascularization, surgeons should be aware that pathological alterations, particularly arteriosclerosis, can affect arterial conduits. Concerning the radial artery, there are previous reports of MCS preventing arterial catheterization and, more importantly, preventing its use as an arterial graft in myocardial revascularization surgery.4,5 A 69-year-old man presented to our hospital with unstable angina. He had systemic hypertension and type II insulin-dependent diabetes mellitus. A previous myocardial infarction occurred 25 years ago, treated with coronary angioplasty and a stent position in the right coronary artery. He was previously submitted to amputation of several toes. No renal dysfunction was detected during the current hospitalization. Coronary angiography demonstrated severe obstructive atherosclerotic lesions in the left trunk and anterior descending coronary artery, plus occlusive thrombosis of the right coronary artery. Myocardial revascularization surgery was planned with the use of internal thoracic and radial arteries. However, at the operation table, the surgeon noticed the radial artery was severe and diffusely calcified and decided to abort its use. The revascularization surgery was successfully concluded using the left internal thoracic artery and two saphenous vein grafts. The Pathology laboratory received a 16 cm long artery presenting an external diameter ranging from 0.4 to 0.6 cm. The artery was diffusely hardened and presented a calcified aspect. After chemical decalcification, the artery was cross-sectioned and moderate to severe thickening of the wall was noticed (Figure 1A). At histology, there was massive calcification of the media and mild multifocal, fibrotic thickening of the intima (Figure 1B). There were no lipid deposits or calcification of the intima. We concluded for severe MCS plus mild atherosclerosis.
Copyright (c) 2024 Luiz Alberto Benvenuti https://creativecommons.org/licenses/by/4.0
Anti MDA-5 associated rapidly progressive interstitial lung disease complicated by viral pneumonia - a fatal outcome
Dermatomyositis is a heterogeneous systemic disease, with 7% to 10% of the individuals presenting the Anti MDA-5 antibody. This subset of patients has clinically amyotropic dermatomyositis, presenting with cutaneous ulcer and rapidly progressive interstitial lung disease. We report the case of a 22-year-old male with a six-month history of low-grade fever associated with myalgia, polyarthralgia, and marked weight loss. He had a history of shortness of breath and high-grade fever 15 days before admission. His clinical features and imaging workup were consistent with acute respiratory distress syndrome. A nasal swab was positive for H1N1 influenza virus infection. During the disease investigation, he succumbed after nine days of admission. The autopsy examination showed diffuse alveolar damage on a background of non-specific interstitial pattern of injury in the lungs. His postmortem muscle biopsy revealed subtle changes of inflammatory myopathy. The brain showed diffuse subarachnoid hemorrhage. Evaluation of postmortem serum sample revealed positivity for Anti MDA-5 and Ro-52 antibodies. This was a case of Anti MDA-5 and Ro-52 associated dermatomyositis with non-specific interstitial pneumonia pattern of lung injury complicated with H1N1 influenza pneumonia, leading to diffuse alveolar damage and subsequent respiratory failure and death. Serum Anti MDA-5 antibodies represent an important biomarker for diagnosing and predicting prognosis for patients with idiopathic inflammatory myopathies, especially clinically amyopathic dermatomyositis. Anti-Ro-52 has been reported in a wide variety of autoimmune diseases, particularly in myositis, scleroderma, and autoimmune liver diseases. Ro-52 autoantibodies are associated with interstitial lung disease (ILD), and their presence should encourage the clinician's curiosity to search for ILD.
Interstitial Respiratory Distress Syndrome
Copyright (c) 2024 Saikat Mitra, Nithye Parvathy, Mandeep Garg, Shritik Devkota, Sandeep Bansal, Inderpaul Singh Sehgal, Kirti Gupta https://creativecommons.org/licenses/by/4.0
COVID-19 shed light on Virchow’s law of thrombosis
Virchow’s law of thrombosis states that thrombosis in a vessel occurs as a combination of the following: (i) injury to the vessel wall, (ii) stasis of blood flow, and (iii) blood hypercoagulability. Injury to the wall includes infection/inflammation and/or injury to the resident cells of the wall. We postulate that in COVID-19, the SARS-CoV-2 virus directly infects the alveolar type II cell or directly or indirectly infects/injures the pericyte, promoting inflammation and interaction with endothelial cells, thereby causing a cascade of events leading to our observation that thrombosis occurred within the walls of the pulmonary vessels and not in the lumen of the vascular circulation.
Copyright (c) 2024 Hubert Daisley, Oneka Acco, Martina Daisley, Dennecia George, Lilly Paul, Arlene Rampersad, Johann Daisley https://creativecommons.org/licenses/by/4.0
Unravelling the mystery of the central dentinogenic ghost cell tumor- a rare case report and recurrent insights
Dentinogenic ghost cell tumor (DGCT) is a rare benign neoplasm form of calcifying odontogenic cyst (COC) characterized by ghost cells. Although benign, it presents an aggressive behavior. DGCT accounts for 2% to 14% of all COCs and less than 0.5% of all odontogenic tumors. It is a benign odontogenic tumor despite its local invasion and the likelihood of recurrence. To detect recurrence, central DGCT patients must be monitored long-term. We present the case of a 51-year-old male who reported pain in the right upper back tooth region. On examination, a soft to firm, bright red swelling was present in the buccal vestibule and gingival margin of the maxillary right first and second molar, which extended up to the palate. Histopathological analysis confirmed the diagnosis of a DGCT, which occurred in a previously treated calcifying odontogenic cyst. The case is reported here, along with a review of the literature update of such recurred instances in the past.
Copyright (c) 2024 Jagveer Yadav, Mala Kamboj, Anju Devi, Anjali Narwal, Deepti Chhikara, Bhawna Saini https://creativecommons.org/licenses/by/4.0
To the Editor: Cholangiocarcinoma (CCA) is a rare malignancy of the biliary tract, comprising 3% of all gastrointestinal cancers.1 Typically diagnosed in the seventh decade of life, it seldom occurs in the pediatric age group, making cases in pediatric patients notable.2 CCA in children and adolescents is frequently associated with underlying risk factors. In contrast, only 30% of adults exhibit them.3 We report the youngest presentation of a sporadic case of CCA in a 5-year-old boy with an unremarkable medical history. A 5-year-old boy presented with a 15-day history of progressive abdominal distension and vomiting. Notably, there was no weight loss, fever, or jaundice. Clinical examination revealed a distended abdomen with dilated veins and marked hepatosplenomegaly. Laboratory findings included a hemoglobin of 12.5 g/dL (13-18 g/dl), a white blood cell count of 14,810/μL (4000-11500/uL), and a platelet count of 341,000/μL (331000/uL). The biochemical profile revealed a total serum bilirubin level of 0.6 mg/dL (0.2-1.2 mg/dL), serum aspartate aminotransferase of 37 U/L (up to 35 U/L), serum alanine transaminase of 11 U/L (up to 55 U/L), albumin of 3 g/dl (3.5-5.2 g/dL), and an INR of 1.1. Tests for human immunodeficiency virus, hepatitis B surface antigen, and hepatitis C virus were negative. The abdominal and pelvic contrast-enhanced computed tomography revealed an enlarged liver with multiple scattered, well-defined hypodense lesions, the largest in segment VI of 3.3x3.0cm. The spleen was enlarged, without focal lesions. Multiple paraaortic and mesenteric lymph nodes were enlarged, and the abdomen had moderate free fluid. Serum carbohydrate antigen 19-9 (CA 19-9) was l136 U/mL (RR: 0-37 IU/mL), and alpha-fetoprotein was 2.19 IU/mL (RR: 0-8 IU/mL). An ultrasound-guided liver biopsy revealed a neoplasm characterized by tumor cells with eosinophilic cytoplasm, vesicular nuclear chromatin, and prominent nucleoli arranged in a glandular pattern, cords, and nests. Immunohistochemistry (IHC) results were strongly positive for CK7 and CK19 and negative for CK20, SALL4, AFP, Glypican 3, HepPar1, Arginase1, and β-catenin, suggesting CCA (Figure 1). Figure 1 Photomicrographs of the liver biopsy. A – Microscopy displaying a neoplasm composed of tumor cells arranged in a glandular pattern, cords, and nests (H&E, 10X); B – positive, diffuse, and strong cytoplasmic reaction for CK19 (10X); C – negative reaction for CK 20 (10X); D – negative reaction for HepPar1(10X).: Fluorodeoxyglucose positron emission tomography (FDG-PET) indicated liver enlargement with FDG avid multiple hypodense lesions but no distant metastasis. Pediatric surgery consultation was sought, but due to the poor general condition of the patient and multifocal lesions in the liver, it was deemed inoperable. The child underwent systemic chemotherapy with gemcitabine and cisplatin. After two cycles, the patient developed massive pleural effusion, ascites, and respiratory failure. Repeat FDG PET indicated progressive disease, and the patient continued on supportive measures but ultimately succumbed to the illness. Parents were counselled to an autopsy to search for any underlying hepatic disease but were not willing to do the same. CCA is an extremely rare malignancy in children, with an incidence of 0.0036/100,000, compared to that of 1.67/100,000 in the adult population.4 It is a bile duct malignancy and is divided into three subtypes depending on their anatomical site of origin: intrahepatic (iCCA), perihilar (pCCA), and distal CCA (dCCA). The most characteristic and common presentation of extrahepatic cholangiocarcinoma (eCCA) is jaundice and is seen only in 10-15% of cases of iCCA. iCCA is located in the liver parenchyma proximal to the second-degree bile ducts and generally presents with nonspecific symptoms like abdominal pain, nausea, weight loss, malaise, and night sweats. Diagnosis is often delayed in such cases. It also has a propensity for liver metastasis. Surgical resection with negative tumor margins is achieved only in 45% of the patients.5 Several risk factors have been linked to CCA like congenital biliary dilatation, choledochal cyst, choledocholithiasis, Caroli disease, primary sclerosing cholangitis (PSC), progressive familial intrahepatic cholestasis (PFIC), viral infections (Hepatitis B virus and hepatitis C virus), Inflammatory bowel disease, and Opisthorchis viverrine and Clonorchis sinensis infection.6-8 Most pediatric and adolescent cases have underlying risk factors for CCA, while only 30% have an underlying risk factor in adults. An extensive search revealed only three cases reported in English literature of pediatric cholangiocarcinoma presenting in the first decade of life. All cases had underlying risk factors; PFIC in 2 and 1 had congenital biliary dilatation. The presenting complaints were fever, pruritis, abdominal pain, and vomiting, and none of them had features of biliary obstruction. Two of them were diagnosed with iCCA and succumbed to their illness within 5 months of diagnosis. One had eCCA who underwent surgical resection and is alive post-year after surgery.6,8 To the best of our knowledge, our case represents the youngest presentation of sporadic CCA (Table 1). Table 1 Summary of patients with pediatric cholangiocarcinoma presenting in the first decade of life described in the literature: Ref. Age (years)/ Sex Comorbidities Presenting symptoms Tumor markers Site Treatment Status/ Follow up Scheimann et al.8 4/F PFIC Fever CA 19-9 132 IU/mL ICCA Chemo Death within 5 months from diagnosis Giant cell hepatitis Biliary cirrhosis AFP-61.5 IU/mL Scheimann et al.8 7/F PFIC Pruritis Not available ICCA None Death within 4 months from diagnosis Giant cell hepatitis Biliary cirrhosis Saikusa et al.6 3/M Congenital biliary dilatation with pancreaticobiliary maljunction Abdominal pain Not available ECCA Resection Alive/ 1 year Index case 5/M No comorbidities Abdominal distension CA 19-9- 136 IU/mL ICCA Chemo Death within 2 months from diagnosis AFP (–) 2.19IU/mL AFP: Alpha-fetoprotein. CA: Carbohydrate antigen; Chemo: chemotherapy; ECCA: Extrahepatic cholangiocarcinoma; ICCA: Intrahepatic cholangiocarcinoma; PFIC: Progressive familial intrahepatic cholestasis. Morphologically, CCA can be tubular/acinar adenocarcinoma with well, moderate, or poor differentiation and show immunopositivity for CK7, CK19, and EMA. Metastatic colorectal adenocarcinoma, upper gastrointestinal tract cancers, and metastatic pancreaticobiliary adenocarcinoma are close differentials and can be differentiated based on CK20 and a comprehensive IHC panel including MUC2, MUC5AC, CA19-9, mCEA, CA125, SMAD4, respectively.9 The prognosis for children and adolescents with CCA is unfavorable. Surgery is a potentially curative option; however, most patients have metastatic or locally advanced disease at presentation, and only 25% are eligible for resection. Robust data supports the use of first-line cisplatin and gemcitabine chemotherapy in adults with advanced disease.10 Survival is related to the extent of disease spread; thus, early diagnosis of CCA is essential for positive outcomes.
Copyright (c) 2024 Amrit Kaur, Prakruthi S. Kaushik, Suma Mysore Narayana, Arun Kumar Ajjapanahalli Rajanna, Aruna Kumari Bandagadde Sreenivasa Bhat, Lingegowda Appaji https://creativecommons.org/licenses/by/4.0
The need for mandatory autopsy teaching in Forensic Medicine for medical students
The effectiveness of the autopsy as an educational tool in forensic medicine courses has been widely acknowledged, and medical students were expected to attend regularly. Nevertheless, the use of autopsies for teaching has dramatically declined in recent years and worldwide despite their high-value benefits. This study aims to understand the importance and relevance of attending autopsies during forensic teaching sessions and identify any challenges that may impede attendance. A self-administered online questionnaire that assesses the knowledge, attitudes, and practices related to autopsies attendance was distributed to fourth-year medical students at the National Defence University of Malaysia and Universiti Sains Islam Malaysia. A total of 99 respondents were involved in this study. Our findings indicate that most respondents (over 85%) demonstrated good knowledge of forensic medicine. Pearson's statistical test revealed a significant correlation between the knowledge and students' attitudes toward autopsy. This study demonstrates the need to strategically integrate autopsy attendance into medical curricula to encourage constructive attitudes and practices among medical students. Students gain the most benefits from frequently attending autopsies. Passionate educators can conduct preparatory sessions to set expectations and address concerns, encourage students to process their experiences, and reinforce learning outcomes in the mortuary setting. Mandatory autopsy teaching should be integrated into the curriculum to ensure medical students have the necessary skills and knowledge to become competent doctors.
Copyright (c) 2024 Nurul Kharmila Abdullah, Nur Arina Ahmad, Shalinawati Binti Ramli, Nadiawati Abdul Razak https://creativecommons.org/licenses/by/4.0
Laryngeal plasmacytoma in a patient with Down’s syndrome
Extramedullary plasmacytoma is a rare localized plasma cell neoplasm typically found in soft tissues outside the bone marrow. Predominantly occurring in the head and neck region, particularly in the sinonasal and nasopharyngeal areas, it presents a diagnostic challenge due to its uncommon nature. Herein, we report a 38-year-old female patient with Down’s syndrome with a 2-year complaint of intermittent dysphonia, hoarseness, and progressive respiratory distress, including dyspnea, fatigue, and biphasic stridor. Examination via flexible laryngoscopy revealed a white lesion, prompting direct microscopic laryngeal surgery to excise a 1x1 cm mass. Histological findings confirmed the diagnosis as solitary extramedullary plasmacytoma. Notably, this represented the first documented case of laryngeal solitary extramedullary plasmacytoma in a patient with Down’s syndrome. This case underscores the importance of considering tumor development in the larynx among individuals with Down’s syndrome, highlighting the necessity for tailored management strategies to address such occurrences effectively. Increasing awareness of this association can aid in early detection and appropriate treatment of tumors in this population.
Copyright (c) 2024 Hassan Hodroj, Zahraa Saker, Zahraa Al Najjar, Hassane Choukr, Mohamad Reda Noureddine El Moussaoui https://creativecommons.org/licenses/by/4.0
Unilateral testicular metastasis of prostate cancer
Prostatic adenocarcinoma is the most common type of cancer in men, with subsequent lesions most commonly occurring in the lymph nodes, bones, and lungs.1,2 We discuss the clinical case of a 59-year-old man who presented after radical prostatectomy for prostate cancer with a unilateral metastasis in the right testis. Metastases to the testis are uncommon, occurring in less than 4% of cases.2,3 This kind of metastasis is usually unilateral, manifesting as a palpable testicular mass, and rarely involves both the testis and the epididymis.1,2 Secondary neoplasms of the testis are found in around 2.5% of autopsies, including nonneoplastic fatalities.2 Most secondary testicular metastases develop from distant primary locations, the most prevalent of which are the lung, prostate, and gastrointestinal tract.2 Testicular metastases can occur in up to 4% of all prostate cancer cases and are frequently discovered by chance following orchiectomy therapy for advanced disease.4 In general, advanced prostate cancer metastases to the pelvic lymph nodes, bones, lungs, and liver are common; however, few of these patients have clinically evident testicular metastasis.4,5 Secondary neoplasms of the testis are uncommon, with a reported rate of 0.02-2.5%, except leukemia and lymphoma infiltration.2,3 The prostate is the most common site of testicular metastases (15%), followed by the lung, melanomas, skin, colon, and kidney.1,2 However, most testicular metastases of prostate cancer were discovered after examining a significant number of testes from patients who had tumors removed during therapeutic orchiectomies.2,4 Lung cancer (43%), malignant melanoma (20%), pancreatic cancer (10%), and prostate cancer (10%) are among cancers that can spread to the testes.4,5 However, the great majority of metastases are lesions detected by chance following an autopsy or bilateral orchiectomy for Prostatic Cancer hormonal treatment.3 A testicular tumor revealing clinical recurrence is highly unusual. Bubendorf et al.1 discovered testicular metastases in just 0.5% of 1,589 prostate carcinoma autopsy reports. He also suggests a backward metastatic channel through prostate veins in addition to the typical hematogenous tumor spread via the vena cava. Overall, four routes have been hypothesized for the propagation of the lesions to the testis: retrograde venous extension, retrograde lymphatic extension, arterial embolism, and through the lumen of the vas deferens.1 Patients with symptomatic isolated post-prostatectomy testicular metastases can live for a surprisingly long time after orchidectomy without further development. This phenomenon may be linked to cytoreduction.1,2 The ability to manage the malignant process locally is an undeniable clinical benefit for patients undergoing orchiectomy. Given that this method of treatment is easy, safe, and associated with few problems, all patients with isolated prostatic cancer testicular metastases should be considered candidates for metastasectomy.4,5 The histological features of prostate cancer testicular metastases are similar to those of original prostate tumors; however, histology may show a more aggressive phenotype with a significant probability of future disease spreading and, thus, worse survival.3,4 Weitzner4 found that patients with newly diagnosed testicular metastases from prostate cancer had a median survival of roughly 12 months.1,2 Other studies, on the other hand, have documented survival of more than two years without biochemical relapses. As a result, the predictive impact of testicular metastases from prostate cancer is yet unknown, owing to the rarity of the incidence.2 Testicular metastasis from prostate carcinoma is an uncommon manifestation of advanced disease.2 It often presents with testicular pain, swelling, or a palpable mass and can mimic primary testicular neoplasms. Clinicians should maintain a high index of suspicion, especially in patients with a history of prostate carcinoma. Prompt diagnosis through imaging studies and histopathological confirmation is essential for appropriate management and prognosis.3,4 This case underscores the importance of considering testicular metastasis in the differential diagnosis of testicular masses, particularly in patients with a history of prostate carcinoma. A multidisciplinary approach is crucial for optimal management and improving patient outcomes. Early recognition and timely intervention are paramount in managing metastatic disease and improving quality of life. Figure 1 refers to a 59-year-old male patient presented to our hospital with an elevated serum prostate-specific antigen (PSA) level of >100 ng/ml. He had been on regular follow-up with urology for surveillance of prostate cancer recurrence. He had undergone a radical prostatectomy two years ago with Gleason grade group 5. Scrotal ultrasound showed a hypoechoic mass involving the right testicle with increased vascularity, suggesting a neoplastic lesion. Hence, the patient was planned for a bilateral orchidectomy. The patient underwent bilateral inguinal orchiectomy without any complications. Macroscopic examination of the right resected testis revealed a solid yellowish-white tumor of 0.5 × 0.5 cm. Histopathological analysis showed that the right testis was infiltrated by metastatic adenocarcinoma. Immunohistochemical examination revealed that tumor cells were diffusely positive for PSA and Alpha (α)-methylacyl-CoA racemase (AMACR). The patient was diagnosed with right testicular metastasis of Prostatic Carcinoma. The patient had an uneventful postoperative recovery. The patient was scheduled for regular follow-up appointments to monitor disease progression. Serial PSA levels and imaging studies were planned to look for disease status. Figure 1 A – Gross view of the right orchidectomy showing a small nodular metastatic deposit in tunica albuginea from the prostate cancer; B, C and D are photomicrographs of the tumor and testicle parenchyma; B – shows normal testicular seminiferous tubules along with presence of metastatic tumor deposit in the wall of testis (Tunica albuginea) (H&E x100); C – These tumor cells are immunopositive for prostate specific antigen (PSA 40X); D – The tumor cells are also positive for Alpha-methylacyl-CoA racemase (AMACR 200X).:
Copyright (c) 2024 Ravi Hari Phulware, Gayathri K S, Gaurav Rajendra Shirsath, Amit Gupta https://creativecommons.org/licenses/by/4.0
Traveling together! - Intrathymic thyroid tissue in a patient with Graves’ disease
Ectopic thyroid tissue is rare in the general population and more prevalent in people who have existing thyroid disease. Common anatomical sites of ectopic thyroid tissue include the lateral cervical region, thyroglossal duct, mediastinum, lingual, sublingual, and submandibular region. Intrathymic ectopic thyroid tissue is exceedingly rare. The purpose of this report is to describe one such case in a 52-year-old African-American female with Graves’ disease. The patient presented for a physical exam and follow-up. During the exam, an incidental mediastinal mass was discovered, which was evaluated by imaging studies and subsequently was resected. Histologically, the mass was composed of variable-sized thyroid follicles lined by a monolayer of cuboidal to columnar follicular epithelial cells and filled with eosinophilic colloid, surrounded by a rim of unremarkable compressed thymic tissue.
Copyright (c) 2024 Hugh Ellis McCormick, Sidrah Khawar, Ameer Hamza https://creativecommons.org/licenses/by/4.0
Non-functioning parathyroid cyst presenting as a neck mass
Parathyroid cyst (PC) is an uncommon cause of neck mass and accounts for 0.8- 3.41% of parathyroid lesions. Females are more commonly affected than males (F:M- 2.5:1).1 Nearly 90% of PCs are non-functional, while the remaining are functional and secrete parathormone. Although functional PCs usually manifest cystic degeneration of a parathyroid adenoma, simple functional cysts of the parathyroid gland presenting features of hyperparathyroidism have also been documented.2 PC mainly develops in the inferior parathyroid glands, like the index case. The presentation may vary from asymptomatic neck mass to compressive symptoms such as hoarseness, dysphagia, or dyspnea. On examination, they are palpable as a soft, fluctuant cystic mass that moves with deglutition. Ultrasonogram usually reveals an anechoic thin-walled cyst with posterior enhancement, and computed tomography and magnetic resonance imaging demonstrate the cystic nature of the lesion and its anatomical relationship. Scintigraphy may not help determine the exact location of the cyst. Histopathological examination remains the gold standard for the diagnosis. The best treatment option for both functional and non-functional PC is surgical excision. Other options, such as simple aspiration and percutaneous injection of sclerosing agents, may also be attempted in cases of non-functional PC.3 Figure 1 refers to the case of a 24-year-old young female who presented with an asymptomatic neck swelling that progressively increased over the last 4 months. There were no complaints of dyspnea, dysphagia, palpitation, or symptoms of hypothyroidism. On clinical examination, a 5×4 cm swelling was palpable in the left anterior aspect of the neck. It was smooth with regular, well-defined margins, firm, and non-tender, moving with the deglutition but not with tongue protrusion. No lymphadenopathy was present. Lab investigations revealed normal thyroid hormone profile; triiodothyronine (T3: 0.82 ng/ml; RR: 0.35- 1.93 ng/ml), thyroxine (T4: 9 µg/dl; RR: 4.87-11.729 µg/dl), thyroid stimulating hormone (TSH:1.53 µIU/ml; RR:0.35-4.94 µIU/ml) and parathyroid hormone (PTH: 46.4 pg/ml; RR: 15-65 pg/ml). Contrast-enhancing computed tomography revealed a hypodense, well-defined cystic lesion of 72x46x40 mm on the left side of the thyroid with extra-thyroid extension inferiorly up to the manubrium sternum (Figure 1A). There was no internal calcification or solid component within the cyst. In addition, multiple sub-centimetric cervical lymph nodes in the upper, lower, mid-jugular region and posterior triangle of the neck were identified. Based on the clinical and imaging findings, a benign thyroid cyst was suspected in a euthyroid individual. The cyst’s fine needle aspiration cytology (FNAC) yielded 5 mL of clear fluid containing cholesterol crystals and occasional foamy macrophages in a fluidy background. A complete surgical excision was performed. Intraoperatively, a large cyst was identified arising from the lower pole of the left lobe of the thyroid, extending inferiorly up to the manubrium sternum, laterally up to the common carotid artery, and superiorly up to the hyoid bone. Grossly, the cyst was collapsed, was thin-walled, and had smooth outer and inner surfaces. No attached thyroid gland was identified. The wall showed uniform thickness (0.1-0.3cm). The capsular surface was smooth, and the cyst contained a brownish fluid. Microscopically, the cyst was lined by flat cuboidal to low columnar epithelium. The cyst wall showed discontinuous bands of parathyroid tissue embedded within the fibroconnective tissue (Figure 1B). These cellular foci were composed of lobules and organoid nests of monomorphic cells with central round nuclei, granular chromatin, inconspicuous nucleoli, and clear to pale eosinophilic cytoplasm (Figure 1C). No solid areas or features of adenoma were seen. On immunohistochemistry, these cells were positive for parafibromin (diffuse strong nuclear) (Figure 1D) and synaptophysin (diffuse strong cytoplasmic granular) and were negative for TTF-1, thyroglobulin, and calcitonin, confirming the diagnosis of PC. The right inferior parathyroid was normal. Figure 1 A – CECT image showing hypodense cystic lesion in the left side of neck with extra thyroid extension inferiorly up to the manubrium sternum; B-D – Photomicrographs of the cystic lesion; B – Cyst showing lobules of cells embedded within the collagenous wall underneath the lining epithelium (H&E; 40X); C – Flat cuboidal lining epithelium and aggregates of monomorphic parathyroid cells with optically clear cytoplasm in the cyst wall (H&E; 400X); D – Strong nuclear positivity for Parafibromin immunostain (200X).:
Copyright (c) 2024 Sangamitra Rajasekaran, Adarsh Barwad, Suvradeep Mitra https://creativecommons.org/licenses/by/4.0
Giant intrapulmonary solitary fibrous tumor
Solitary fibrous tumor (SFT) is a soft tissue tumor of mesenchymal origin involving, most commonly, the pleura. Intrapulmonary SFT is a slow-growing tumor that rarely reaches giant forms. SFTs are asymptomatic and often randomly discovered by routine chest X-rays. The diagnosis requires histopathological and immunohistochemical (IHC) examinations. Most of the SFTs are benign and present an indolent course. Larger tumors are more likely to be malignant and consequently associated with a worse prognosis. Despite having histopathological criteria for malignancy, the behavior of SFTs is challenging to predict. We report a case of giant intrapulmonary SFT of intermediate risk.
Copyright (c) 2024 Sheela Devi Chandakavadi Shivalingaiah, Deepika Gurumurthy, Gauri Dadich https://creativecommons.org/licenses/by/4.0
Bilateral primary ovarian Ewing sarcoma recurring as left submandibular lymphadenopathy diagnosed on cytology
Ewing sarcoma (ES) is a highly malignant and aggressive small round-cell tumor originating from primitive neuroepithelium and mesenchymal stem cells. It is usually seen in children and adolescents with a male predilection and a preponderance to occur in long bones. Although skeletal/soft tissue ES is encountered in clinical practice, primary ES of the genital tract, particularly bilateral primary ovarian ES, is highly uncommon, with only a handful of cases reported worldwide. Ovarian ES is occasionally reported to involve para-aortic and pelvic lymph nodes in advanced stages. Still, cervical lymph node metastasis from ovarian ES is an infrequent clinical occurrence and, when present, indicates a worse prognosis. Here, we present an intriguing case of bilateral peripheral primary ovarian ES in an adult female, recurring as metastasis in the left submandibular lymph node. This case underlines the importance of keeping metastasis from ES as a possible differential while diagnosing metastatic small round cell tumors in peripheral lymph nodes. It also highlights the usefulness of a minimally invasive diagnostic modality of fine needle aspiration cytology and cell block preparation with applied ancillary techniques of immunohistochemistry and confirmatory molecular testing by fluorescence in-situ hybridization (FISH), for an accurate and quick diagnosis of such entities. The cytological diagnosis of our patient helped in the prompt and early initiation of chemotherapy without requiring any invasive procedure.
Copyright (c) 2024 Shaivy Malik, Neha Kawatra Madan, Meetu Agrawal, Rajni Yadav, Adarsh Barwad https://creativecommons.org/licenses/by/4.0
Localized cystic kidney disease: a case report unveiling clinical and histopathological challenges
Localized cystic kidney disease (LCKD) is a distinct renal disorder characterized by the presence of cysts within specific regions of the kidneys. We present a rare case of a 41-year-old African American man, who presented to our medical center with lower urinary tract symptoms and gross hematuria. The initial assessment culminated in the identification of an uncomplicated urinary tract infection, prompting the prescription of appropriate oral antibiotic therapy. On follow-up after 5 months, the patient presented with gross hematuria. Imaging studies revealed a mixed-density cystic lesion of 2.6 cm situated within the interpolar region of the right kidney. This cystic lesion exhibited intricate septations at the superior pole of the kidney. Robotic-assisted right partial nephrectomy was performed, and pathologic examination was diagnostic for LCKD. This report not only underscores the uniqueness of LCKD but also presents a comprehensive review of the existing literature that pertains to this condition. Particular emphasis is placed upon its inherent benign behavior and its marked divergence from the progressive trajectory commonly associated with other renal diseases. We also explored the incidental findings of the disease, its diverse clinical symptomatology, conceivable etiological underpinnings, and the array of diagnostic modalities used. Finally, similarities in histopathologic findings with polycystic kidney disease and other entities are discussed, underscoring the importance of accurate diagnosis and management.
Copyright (c) 2024 Teresita Mendez, Hisham F. Bahmad, Francesca Polit, Nicole Carpio, Arman Gill, William F. Burke III, Akshay Bhandari, Robert Poppiti, Yumna Omarzai https://creativecommons.org/licenses/by/4.0
A great simulator in clinical practice: mononeuritis multiplex in HIV infection
HIV infection is a chameleon, mimicking several diseases. Herein, we report a previously healthy 39-year-old woman who, over 2 months, developed arthritis, weight loss, and confluent multiple mononeuropathy. Extensive laboratory investigation showed positive serology for HIV, with a CD4 count of 100 cells, and necrotizing vasculitis on a nerve biopsy not associated with CMV co-infection, allowing the diagnosis of polyarteritis nodosa-like vasculitis in an HIV-infected patient. Apart from the infection, HIV-related autoimmunity can affect any organ and contribute to the complexity of the clinical presentation of HIV infection.
Copyright (c) 2024 José Pedro Soares Baima, Beatriz Carneiro Gondim Silva, Vanessa Lopes Vieira, Luiz Pedro Meireles, Milton Hideaki Arai, Angelina Maria Martins Lino https://creativecommons.org/licenses/by/4.0
Submandibular and sublingual salivary gland involvement in adenoid cystic carcinoma
Adenoid cystic carcinoma (AdCC) is a malignant salivary gland neoplasm that presents as an indolent but aggressive neoplasm. AdCC histogenesis is linked to the intercalated ducts of the salivary glands, equally affecting the major and minor glands. AdCC is associated with distant metastasis, most commonly to the lungs, and a high recurrence rate. AdCC accounts for 4.2% of all tumors. About 55% of all reported cases affect the submandibular gland, and around 50% of AdCC cases occur in the minor salivary glands. The present review describes a case of AdCC which presented a single nodular swelling on the right side involving the floor of the mouth. It also consolidates the histopathological profile of a case of AdCC with all the relevant histopathological features.
Copyright (c) 2024 Poonam Ramnath Sawant, Manjeeta Mahesh Sinai Dhume, Anita Spadigam, Anita Dhupar https://creativecommons.org/licenses/by/4.0
Clear cell myomelanocytic tumor of ligamentum teres
Clear cell myomelanocytic tumor (CCMMT) of the falciform ligament/ligamentum teres is a rare hepatic tumor, a variant of the perivascular epithelioid cell tumor (PEComa) family. CCMMT is the rarest variant of hepatic PEComas. Only a few cases of CCMMT have been reported in the English literature. Because of its rarity, less is known about its biological behavior. We present a case of a 31-year-old female who complained of abdominal pain, bilious vomiting, and abdominal fullness over two months. The radiological impression was of focal nodular hyperplasia. The histological examination of the resection specimen revealed a well-circumscribed tumor arranged in fascicles, sheets, and a whorling pattern. The tumor cells were spindle to epithelioid shaped with abundant clear to pale eosinophilic cytoplasm. The tumor cells expressed both myoid (smooth muscle actin) and melanocytic (MelanA and HMB45) markers, while they were negative for hepatocytic and vascular markers. Thus, based on histology and immunohistochemistry, a diagnosis of CCMMT was made. This case presents the diagnostic challenges of CCMMT and discusses the differential diagnosis with a literature review.
Copyright (c) 2024 Ariba Zaidi, Debajyoti Chatterjee, Venu Bhargav, Vikas Gupta, Ashim Das https://creativecommons.org/licenses/by/4.0
A rare case of Sporadic Creutzfeldt-Jakob disease at a remote mountain hospital in the Indian Himalayan Region
Sporadic Creutzfeldt-Jakob disease (CJD) is a rare neurodegenerative spongiform encephalopathy that causes neuronal derangement secondary to prion protein. Its initial diagnosis is often complex and challenging due to non-specific clinical presentation, lack of awareness, and low clinical suspicion. This disease is invariably fatal, and most patients die within 12 months of presentation. Definite diagnosis of prion disease requires neuropathological analysis, usually done at autopsy. Here, we present the autopsy findings of a 57-year-old male patient, illustrating the complexity of diagnosing this disease early in the clinical course and the need for a broad differential diagnosis at the onset.
Copyright (c) 2024 Nitu Sharma, Jitender Kumar Sharma, Ashima Chander, Khushdeep Shergill, Meghna Yadav https://creativecommons.org/licenses/by/4.0
Incidental finding of cardiac hydatid cyst during autopsy
Hydatidosis or echinococcosis is an endemic parasitic disease caused by the ingestion of eggs of echinococcal species worldwide. In India, the annual incidence varies from 1 to 200 per one 100,000 hab., with the highest prevalence reported in the Indian states of Andhra Pradesh and Tamil Nadu. The dog is the definitive host, while humans, sheep, and cattle are intermediate hosts. The disease usually involves the liver and lungs, with the kidney and other organs rare involvement. Cardiac hydatidosis is still further rare, seen in 0.2% to 2% of the patients who remain asymptomatic until the development of its complications. Sudden deaths in cardiac echinococcosis are mostly attributed to cardiac arrhythmias, coronary artery diseases, valvular diseases, cardiomyopathies, pericarditis, and cardiac tamponade. We, herein, report a rare case of cardiac hydatid cyst incidentally found during the autopsy of a 26-year-old male who died due to electrical injuries. A single greyish-white cystic mass measuring 1.5cm X 1.2cm was detected on the left anterior ventricular wall 4 cm above the apex and was confirmed microscopically as a hydatid cyst. The cause of death was attributed to external injury.
Copyright (c) 2024 Nishant Purbey, Amit Patil, Shreekant Bharti, Keshav Chandra, Shashank Ranjan https://creativecommons.org/licenses/by/4.0
Emerging infection: streptococcal toxic shock-like syndrome caused by group B Streptococcus (GBS), Streptococcus agalactiae
Streptococcus agalactiae or Group B Streptococcus (GBS) infections are commonly associated with infections in neonates and pregnant women. However, there has been a rising incidence in nonpregnant adults. The risk of GBS infection in nonpregnant adults is increased for patients of advanced age and those with underlying medical conditions such as diabetes mellitus and cancer. We present a 77-year-old female with type-2 diabetes mellitus, hypertension, and bilateral foot ulcers that presented in probable septic shock with necrotic foot ulcers and necrotizing fasciitis and underwent bilateral lower limb amputations. The patient fulfilled the Streptococcal Toxic Shock Syndrome (STSS) criteria as defined by The Working Group on Severe Streptococcal Infections. These criteria were created for group A Streptococcus (Streptococcus pyogenes). Our patient fulfilled the Working Group’s criteria, except that the blood culture was positive for group B Streptococcus (Streptococcus agalactiae). Numerous studies demonstrate the importance of early detection and antibiotic treatment for GBS infections in general and early surgical management for necrotizing soft tissue infections (NSTIs) such as necrotizing fasciitis.
Copyright (c) 2024 Fareed Rajack, Shawn Medford, Ali Ramadan, Tammey Naab https://creativecommons.org/licenses/by/4.0
Fatal asphyxia due to large laryngeal granuloma
Laryngeal granuloma, vocal process granuloma, or post-intubation granuloma are benign, inflammatory lesions of the arytenoid cartilage vocal process. The etiology of laryngeal granulomas is multifactorial, such as chronic irritation due to endotracheal intubation, vocal cord injury or trauma, and gastroesophageal reflux disease. They can arise postoperatively after mucosal injury due to orotracheal intubation. Clinical manifestations include voice change and dyspnea, which may start one to four months after extubation and may rarely lead to asphyxia. We presented a case of death due to glottic granuloma occurring after a surgical procedure to remove a laryngeal polyp attributed to previous laryngeal injuries by multiple intubations.
Copyright (c) 2024 Ajay Kumar, Ravi Rautji, Asit Ranjan Mridha, Chittaranjan Behera https://creativecommons.org/licenses/by/4.0
Leiomyoma is a benign smooth muscle tumor that most commonly occurs in the uterus; however, it can also manifest in various extragenital locations, including the maxillary sinus.1,2 While leiomyomas of the maxillary sinus are occasional, they present unique diagnostic and management challenges. The maxillary sinus, one of the paranasal sinuses in the facial bones, is typically associated with sinusitis or odontogenic infections.1 Therefore, clinicians primarily consider inflammatory or neoplastic etiologies when encountering a mass within the maxillary sinus. Among the possible neoplastic causes, leiomyoma is a less frequently encountered entity, but it should be considered in the differential diagnosis.1,2 Understanding the clinical presentation, radiological features, and appropriate management strategies for leiomyoma of the maxillary sinus is crucial for accurate diagnosis and effective treatment. This case report aims to contribute to the existing medical knowledge by presenting a unique case of leiomyoma arising in the maxillary sinus, discussing the diagnostic approach treatment options, and highlighting any noteworthy findings.2,3 Leiomyoma of the maxillary sinus can present with various symptoms, including nasal obstruction, facial pain or pressure, recurrent sinusitis, epistaxis (nosebleeds), or a palpable mass in the maxillary region.1,3 However, these symptoms are non-specific and can be mistaken for other sinus entities. Therefore, it is essential to consider leiomyoma as a differential diagnosis in patients with such clinical presentations. Diagnosing leiomyoma of the maxillary sinus can be challenging due to its rarity and overlapping symptoms with other sinus entities. Imaging studies, such as compute tomography (CT) or magnetic resonance imaging (MRI), play a crucial role in identifying the presence, location, and extent of the tumor.3,4 However, a definitive diagnosis requires a histopathological examination of the excised tissue. When encountering a maxillary sinus mass, the differential diagnosis includes various benign and malignant conditions. Potential differentials include inverted papilloma, angiofibroma, Schneiderian papilloma, mucocele, and even malignancies like sinonasal carcinoma or sarcoma. Proper evaluation, including clinical, radiological, and histopathological assessment, is necessary to differentiate leiomyoma from other lesions.4,5 Khanna et al.1 reported the case of a leiomyoma originating in the maxillary sinus in a 55-year-old female. The patient presented with facial pain and nasal obstruction. The CT revealed a well-defined mass in the maxillary sinus. Surgical excision was performed, and the histopathological examination confirmed the diagnosis of leiomyoma. Rana et al.2 presented a case of a 37-year-old male with a leiomyoma in the maxillary sinus. The patient complained of nasal obstruction and recurrent sinusitis. The CT imaging showed a polypoidal mass in the maxillary sinus, and endoscopic sinus surgery was performed to remove the tumor. Histopathological examination confirmed the diagnosis of leiomyoma. In a retrospective study by Li et al.3 seven cases of leiomyoma arising from the maxillary sinus were analyzed. The study highlighted these patients' clinical features, radiological findings, and treatment outcomes. The authors emphasized the importance of considering leiomyoma as a potential diagnosis when evaluating maxillary sinus masses. Khan et al.4 reported a case of leiomyoma originating from the maxillary sinus in a 50-year-old male. The patient presented with nasal obstruction, facial pain, and recurrent epistaxis. Imaging studies revealed a soft tissue mass in the maxillary sinus, and endoscopic sinus surgery was performed for complete excision. Histopathological examination confirmed the diagnosis of leiomyoma. Another case report by Nandedkar et al.5 described a rare presentation of leiomyoma in the maxillary sinus in a 24-year-old male. The patient presented with nasal obstruction and was found to have a mass in the maxillary sinus on imaging. Endoscopic sinus surgery was performed, and the tumor was completely excised. Histopathological examination confirmed the diagnosis of leiomyoma. These case reports and studies collectively highlight the variable clinical presentations, radiological features, and successful management strategies for the leiomyoma of the maxillary sinus. Due to the rarity of this condition, a high index of suspicion is required for accurate diagnosis, and surgical excision is the mainstay of treatment. Further research and case studies are needed to expand our knowledge and improve patient outcomes in this rare entity.3,5 The mainstay of treatment for leiomyoma of the maxillary sinus is surgical excision. The approach can vary depending on the size and location of the tumor. Endoscopic sinus surgery (ESS) is often employed as a minimally invasive technique for complete resection.2,3 In certain cases, an open surgical approach may be required for more extensive tumors. Surgery aims to achieve complete excision while preserving the surrounding structures and achieving symptomatic relief. Leiomyoma of the maxillary sinus has a favorable prognosis due to its benign nature. Complete surgical excision usually leads to the resolution of symptoms and low recurrence rates. Long-term follow-up is important to monitor for any recurrence or complications.1,2 It is important to note that the literature on leiomyoma of the maxillary sinus is limited to case reports and small studies due to its rarity. Further research and larger studies are needed to gather more data on this condition's clinical characteristics, optimal treatment approaches, and long-term outcomes. Postoperative care typically involves nasal irrigation, pain management, and antibiotics. Regular follow-up visits are essential to monitor the patient's recovery, assess for any signs of recurrence, and manage any postoperative complications.2,4 The prognosis of leiomyoma of the maxillary sinus is generally favorable. Since leiomyomas are benign tumors, they do not have the potential to metastasize or invade adjacent structures. With complete surgical excision, most patients experience symptom resolution and have low recurrence rates.4,5 In conclusion, leiomyoma of the maxillary sinus is a rare entity that requires consideration in the differential diagnosis of maxillary sinus masses. Despite the diagnostic challenges, accurate evaluation through clinical assessment, imaging studies, and histopathological examination is crucial for appropriate management. Surgical excision remains the primary treatment modality, with a favorable prognosis and low recurrence rates. Figure 1 refers to a 45-year-old female patient who presented to the otolaryngology clinic complaining of progressive nasal obstruction and intermittent dull facial pain on the right side. She reported that her symptoms had been gradually worsening over the past six months. There were no associated symptoms such as epistaxis, nasal discharge, or changes in smell. The patient had no significant medical history and did not report any history of previous sinus infections or allergies. She had no history of smoking or exposure to environmental toxins. On physical examination, tenderness was on palpation over the right maxillary sinus area. The nasal passages appeared patent, with no visible polyps or signs of inflammation. The rest of the head and neck examination, including the oral cavity, was unremarkable. A flexible nasal endoscopy revealed a bulging mass in the right middle meatus obstructing the ostium of the maxillary sinus. The rest of the nasal cavity and other sinus ostia appeared normal. A computed tomography (CT) scan of the paranasal sinuses was obtained, which demonstrated a well-defined, non-enhancing soft tissue mass filling the right maxillary sinus. There were no signs of erosion into surrounding structures or evidence of distant metastasis. Figure 1 A – Gross photomicrograph shows a greyish white to tan-white well circumscribed but nonencapsulated tumor. The cut surface shows firm, whorled surface areas with hemorrhage (scale bar= 5 cm); B – shows a tumor composed of interlacing fascicles of smooth muscle bundles (H&E, 40X); C – Immunohistochemical reaction for smooth muscle actin (SMA) demonstrating smooth muscle bundles and vessel walls (100X); D – Immunohistochemical reaction for Desmin shows diffuse cytoplasmic positivity (100X).: Based on the clinical presentation and imaging findings, a provisional diagnosis of leiomyoma of the maxillary sinus was made. The patient was counseled about the benign nature of the tumor and the recommended treatment options. The patient underwent endoscopic sinus surgery (ESS) for complete excision of the leiomyoma. During the procedure, the tumor was identified and carefully dissected from the surrounding sinus mucosa. Hemostasis was achieved, and the surgical site was thoroughly irrigated. Histopathological examination of the excised specimen confirmed the diagnosis of leiomyoma, showing spindle-shaped cells with cigar-shaped nuclei arranged in fascicles. No malignant features or atypical mitotic figures were observed. The patient had an uneventful postoperative recovery with the resolution of her symptoms. She was followed up regularly to monitor for any signs of recurrence or complications. During the follow-up visits, the patient remained asymptomatic, with no signs of tumor recurrence or associated complications.
Copyright (c) 2024 Autopsy and Case Reports https://creativecommons.org/licenses/by/4.0/