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ABSTRACT Twin reversed arterial perfusion (TRAP) sequence is a rare complication of monochorionic twinning whereby a donor twin perfuses an acardiac twin via aberrant vascular anastomoses. The resulting paradoxical retrograde blood flow supplying the acardiac twin is oxygen-poor, leading to some of the most severe malformations encountered in humans. Though the first descriptions of acardiac twins date back to at least the 16th century, the pathophysiologic processes which underpin the development of TRAP sequence are still being elucidated. Theories on the pathogenesis of TRAP sequence include deficiencies intrinsic to the embryo and primary abnormalities of the placental vasculature. Autopsy studies continue to provide clues to the underlying pathogenesis of TRAP sequence, and the characterization of the spectrum of manifestations that can be observed in acardiac twins. Herein, we present the clinical, autopsy, and molecular findings in a unique case of TRAP sequence. Novel findings include a primitive cloaca-like structure and chromosomal aberrations involving 6q11.1 and 15q25.1.

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ABSTRACT The present work reports the autopsy findings of a unique case characterized by fatal retroperitoneal hemorrhage following the traumatic rupture of bilateral renal angiomyolipomas. Renal angiomyolipomas are generally benign tumors with an unpredictable clinical course, ranging from asymptomatic to sudden rupture and hemorrhagic shock. They may be associated with genetic disorders such as tuberous sclerosis complex. The case under investigation is unprecedented in the medical literature due to its bilateral nature and fatal outcome. Autopsy analysis revealed an extensive retroperitoneal hemorrhage originating from bilateral ruptured tumors. Microscopic examination found features consistent with bilateral renal angiomyolipoma. Circumstantial information identified a traffic accident before the death, considering it as the cause of the tumors’ traumatic rupture. In this case, due to the severity of the situation, immediate medical measures—such as fluid resuscitation, coagulopathy correction, and surgical treatment, which are usually lifesaving—could not be performed. This led to the patient being declared dead at the scene of the crash.

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ABSTRACT 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.

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ABSTRACT 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.

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ABSTRACT We report the case of a 77-year-old male who suffered from hypertension and died suddenly. At autopsy, he was found to have hypertensive cardiomegaly and a dissecting syphilitic saccular aneurysm of the ascending aorta and arch with tamponade. Chronic aortic regurgitation, which is often seen in syphilitic aortitis, produces an additive effect to the concentric left ventricular hypertrophy seen in hypertension.

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ABSTRACT Fatty acid oxidation defects are a heterogeneous group of disorders related to the mitochondrial fatty acid oxidation pathway. Carnitine acylcarnitine translocase (CACT) is an enzyme responsible for the unidirectional transport of acylcarnitine across the inner mitochondrial membrane. This enzyme plays a crucial role in the oxidation of fatty acids. The autopsy pathology of the CACT deficiency is described in only a few cases. We describe the autopsy pathology of a child with CACT deficiency dominantly in the form of microvesicular steatosis of the hepatocytes, renal proximal tubular epithelia, cardiac myocytes, and rhabdomyocytes. The diagnosis was further confirmed on whole exome sequencing with compound heterozygous variants in the exon 1 (c.82G>T, p.Gly28Cys; likely pathogenic) and exon 5 (c.535G>A, p.Asp179Asn; uncertain significance) of the SLC25A20 gene. This case elucidates the histopathology of the liver and the detailed autopsy of a case of CACT deficiency from India.

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ABSTRACT Trisomy 13, known as Patau syndrome, is a common aneuploidy with a well-known clinical phenotype. This case report describes a trisomy 13 patient with unusual autopsy findings, including features resembling the Beckwith-Wiedemann Spectrum. Due to abnormalities of gestational ultrasounds, a prenatal karyotype of amniotic fluid cells was performed, which resulted in 47, XY+13. Autopsy microscopy studies identified leptomeningeal glioneuronal heterotopia, which was not described as belonging to Patau syndrome. Other atypical findings were diffuse hyperplasia of pancreatic islets of Langerhans and adrenals enlargement with marked adrenocortical cytomegaly, characteristically seen in the Beckwith-Wiedemann Spectrum. Molecular genetic tests were not performed for the Beckwith-Wiedemann Spectrum. Still, due to the rarity of both disorders, this report may support the evidence that trisomy 13 can affect tissue organization and lead to unusual histopathologic features resembling classic overgrowth disorders.

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ABSTRACT Pulmonary arteriovenous malformations (PAVMs) are abnormal vascular connections between pulmonary arteries and veins, often associated with hereditary hemorrhagic telangiectasia (HHT). Most PAVMs are asymptomatic, but life-threatening complications like pulmonary hemorrhage, brain abscesses, and paradoxical emboli can emerge, so prompt diagnosis and treatment are crucial. We report a case of sudden pediatric death in a two-year-old female with no past medical history. Initial vomiting and fast deterioration resulted in a sudden cardiac arrest. The postmortem examination found histological evidence of consistent, extensive lung damage. The absence of the characteristic symptoms made for some challenges when it came to diagnosis, showing precisely that in early life, you could well have many difficulties in catching PAVMs. This case highlights the need to take PAVMs into account as a potential cause of sudden death, particularly when there are no conspicuous symptoms. Awareness among forensic pathologists and consideration of genetic analysis for HHT in such cases is crucial for accurate diagnosis and management.

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ABSTRACT The lymphocyte-depleted classic Hodgkin lymphoma (LDCHL), the rarest subtype of classic Hodgkin lymphoma (CHL), is usually diagnosed at an advanced stage (stage IV) and one that unusually involves the liver, causing a rapidly progressive clinical course. We describe a 40-year-old immunocompromised man presenting with a progressive non-cholestatic jaundice and intermittent fever. The abdominal ultrasonography revealed a nodular liver with coarse echotexture and periportal hypodensities. The thoracic and abdominal contrast-enhanced computed tomography revealed right cervical and paraaortic lymphadenopathy, hepatosplenomegaly, diffuse mural thickening of duodenal and jejunal loops, and bilateral lobulated kidneys. Subsequently, he succumbed to his illness secondary to refractory septic shock. On postmortem examination, he was diagnosed with classic Hodgkin lymphoma (lymphocyte-depleted type) involving paraaortic and mediastinal lymph nodes based on morphology and immunochemistry findings. The lymphomatous process involved the liver (causing multiacinar confluent hepatic necrosis) and spleen, both showing tuberculous foci. This autopsy case depicts an uncommon case of acute liver failure due to infiltration of the liver by LDCHL in an HIV-infected patient. The findings of angiotropism and angioinvasion establish the pathological mechanism of liver failure (hepatocellular necrosis) in such cases.

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ABSTRACT The vasa vasorum of the large pulmonary vessels is involved in the pathology of COVID-19. This specialized microvasculature plays a major role in the biology and pathology of the pulmonary vessel walls. We have evidence that thrombosis of the vasa vasorum of the large and medium-sized pulmonary vessels during severe COVID-19 causes ischemia and subsequent death of the pulmonary vasculature endothelium. Subsequent release of thrombi from the vasa interna into the pulmonary circulation and pulmonary embolism generated at the ischemic pulmonary vascular endothelium site, are the central pathophysiological mechanisms in COVID-19 responsible for pulmonary thromboembolism. The thrombosis of the vasa vasorum of the large and medium-sized pulmonary vessels is an internal event leading to pulmonary thromboembolism in COVID-19.

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ABSTRACT The anatomy of the femoral triangle is explored in various approaches, ranging from pulse verification to invasive catheterization procedures. Within the femoral triangle, the deep femoral artery is one of the vessels reported to present several anatomical variations that must be considered before clinical or surgical interventions. Here, we are reporting a unique bilateral variation of the deep femoral artery for medical education purposes and reflecting on its applied, surgical, and clinical anatomy. During the dissection of the femoral triangle, we observed that the deep femoral artery originated in the vicinity of the inguinal ligament and ran in parallel with the femoral artery in a superficial trajectory on both sides of the donor. On the right side, the DFA continued superficial for 8.8 cm, with an origin of 1.2 cm inferior to the inguinal ligament. On the left side, it presented a similar anatomical arrangement, though with an origin of 1.6cm inferior to the inguinal ligament and a superficial course of 5cm. The position of the lateral circumflex femoral vein posterior to the deep femoral artery played a role in this distinctive, lengthy, and superficial presentation of the deep femoral artery. This anatomical variation directly affects surgical procedures, diagnostics, and endovascular interventions. A deep femoral artery with such a lengthy superficial trajectory can be mistakenly used for catheterization instead of the femoral artery or be injured, disrupting the main blood supply of the thigh muscles.

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ABSTRACT 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.

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ABSTRACT 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.

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ABSTRACT 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.

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ABSTRACT 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.

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ABSTRACT 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.

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ABSTRACT 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.

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Abstract Primary cardiac tumors are rare. The cardiac sarcomas are the most common malignant cardiac tumors. These tumors have a dismal prognosis with an overall median survival of 25 months. Clinical features include dyspnea, arrhythmias, pericardial effusions, heart failure, and sudden cardiac death. The diagnosis is often challenging. Therefore, the cardiac imaging workup plays a central role in addition to a high clinical suspicion in the setting of atypical presentations that do not respond to standard therapies. The echocardiography, computed tomography, and cardiac MRI are crucial in clinching the diagnosis. Multimodal treatment with surgery, chemotherapy, and radiotherapy has been shown to improve outcomes, as opposed to using either of these modalities alone. We describe the case of a 30-year-old gentleman with COVID-19 infection who developed recurrent hemorrhagic pericardial effusions refractory to standard treatment and was eventually diagnosed as a case of pericardial angiosarcoma after his biopsy revealed the diagnosis and staging was performed using PET–CT–FDG scan. Our case re-emphasizes the importance of considering a malignant etiology early in the course of the disease presentation, especially in recurrent hemorrhagic effusions despite an inflammatory cytologic diagnosis of fluid. It also highlights the place for cardiac CT and MRI to ascertain the location and spread and to plan the further course of treatment. If diagnosed early, the estimated survival time can be prolonged by instituting a multimodal approach.

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ABSTRACT 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.

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ABSTRACT 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.

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ABSTRACT 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.

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ABSTRACT Lymphangiomas are rare benign tumors that mainly involve the head and neck region in pediatric patients. Lymphangiomas of the small bowel mesentery in adults are rarer. We present two cases of mesenteric lymphangioma with acute abdominal pain on presentation. Case 1: A 38-year-old female presented with abdominal pain, vomiting, fever, and difficult evacuation. On abdominal examination, she had an ill-defined, tender lump, and radiological findings raised a possibility of perforation peritonitis. Thus, exploratory laparotomy was planned. Per-operatively, a mesenteric mass was found, which, on histopathological evaluation, was found to be a mesenteric lymphangioma involving the bowel. Case 2: A 27-year-old male presented with abdominal pain and difficult evacuation. Radiological evaluation revealed a multilobulated lesion involving the mesentery and with differential diagnoses of mesenteric fibromatoses and inflammatory pseudotumor. Histopathological assessment of the resected mass revealed a lymphangioma that was limited to the mesentery. Owing to their rarity and non-specific presentation, mesenteric lymphangiomas are often misdiagnosed on clinical examination and imaging. Thus, histopathological examination is the gold standard to reach a definitive diagnosis.

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ABSTRACT Echinococcosis is a parasitic disease caused by infection with tiny tapeworms of the genus Echinococcus. Echinococcosis is classified as either cystic echinococcosis or alveolar echinococcosis. The common form is a zoonosis from goats and sheep that tends to cause liver lesions. The larval stage of Echinococcus multilocularis causes alveolar echinococcosis/alveolar hydatid disease. It is a zoonosis with field mice and tundra voles as intermediate and wild carnivores like foxes and wolves as definitive hosts. This zoonosis is highly uncommon compared to the other form known as cystic echinococcosis but poses a great human threat if untreated. We report the case of a young man who was working in the Kashmir Valley, North India, and presented with jaundice and right upper quadrant abdominal pain. Computed tomography revealed a large solid-cystic intrahepatic lesion measuring 125x118x123 mm, suggestive of a malignant tumor with central necrosis. A liver biopsy showed necrosis with PAS-positive membranes morphologically consistent with echinococcosis. Alveolar echinococcosis can present as a solid-cystic mass in the liver and can simulate metastatic malignancy.

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ABSTRACT Primary leiomyosarcoma with osteosarcomatous differentiation of the breast is an uncommon entity. We present the case of a 37-year-old female who presented with a lump in the breast and pulmonary lesions on PET-CT, for which she underwent a toilet mastectomy. Histopathological examination revealed a tumor with cells arranged in sheets. These tumor cells had moderate eosinophilic cytoplasm, highly pleomorphic, irregular hyperchromatic nuclei, coarse chromatin, and prominent nucleoli. Areas with spindle-cell morphology were noted. Osteoid was seen intermingling with the tumor along with numerous osteoclast-like multinucleate giant cells. A wide panel of Immunohistochemistry was applied, and Desmin, h-Caldesmon, SMA, and Vimentin were positive. The patient died 3 months post-surgery and had a recurrence at the surgical site.

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ABSTRACT Ovarian steroid cell tumors are rare, representing less than 0.1% of all ovarian neoplasms. Among the myriad causes of hirsutism, ovarian tumors account for 1% of the reported cases. We present the case of a 49-year-old parous postmenopausal woman who sought medical attention for hirsutism for 2 years. This case illustrates the unusual and interesting connection between rare ovarian pathology and the clinical manifestation of hirsutism in a postmenopausal patient. Her ultrasonography and MRI showed a right adnexal mass of solid-cystic consistency with thin septations. Her laboratory workup revealed high levels of total testosterone of 256 ng/ml (8.4-48.1ng/ml) and free testosterone of 7.36 pg/ml (0.2-4.1 pg/ml), while DHEAS - 234 µg/dl (35.4-256 µg/dl) and CA125 - 15.8U/L (0.0-35 U/L) were in the normal range. She underwent exploratory laparotomy with a total abdominal hysterectomy and oophorectomy. Histopathological examination and immunohistochemistry conclusively established the presence of a steroid cell tumor, specifically classified as "Not Otherwise Specified"(NOS), in the right ovary.

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ABSTRACT Papillary renal cell carcinoma (PRCC) is the second most common renal cell carcinoma (RCC), accounting for 10-15% of cases. Mucinous tubular and spindle cell carcinoma (MTSCC), on the other hand, accounts for only 1% of renal tumors and has a more favorable prognosis compared to PRCC. We report a 75-year-old female with a left upper pole solid renal mass displaying features of both papillary renal cell carcinoma (PRCC) and mucinous tubular and spindle cell carcinoma (MTSC). In this case, a shaggy luminal surface, multiple papillations, and psammoma bodies, absence of E-cadherin expression, and strong CD10 expression favored PRCC. Both immunohistochemistry and genomic analysis are critical to diagnose and differentiate tumors that may have overlapping features accurately.

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ABSTRACT Neuroendocrine breast cancer (NEBC) is a rare and heterogeneous entity. It most commonly presents a luminal phenotype and a worse prognosis. When diagnosed in an advanced stage, metastasis from another neuroendocrine tumor should be excluded. This case features a premenopausal woman with an oligometastatic breast large cell neuroendocrine carcinoma, estrogen receptor (ER) positive, and human epidermal growth factor receptor 2 (HER2) negative. Since the patient was very symptomatic at the presentation of the disease, chemotherapy was started. Complete radiological response of the metastatic disease was achieved, and the patient was then submitted to radical breast surgery and bilateral oophorectomy. She subsequently underwent radiation therapy. Since then and to date, she has been under endocrine therapy (ET) and a CDK4/6 inhibitor (CDK4/6i), with no evidence of malignant disease. Evidence to guide the choice of treatment for these tumors is currently scarce. In cases with oligometastatic disease, radical treatment should be considered. Given that this entity is rare, its reporting should be encouraged.

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ABSTRACT Biliary atresia (BA) is a fibro-obliterative cholestatic disease of infancy. The presence of cartilage in the resected tissue is an uncommon finding. We documented the presence of both mature and immature hyaline cartilage in the portal plate and the wall of the gallbladder in a 2-month-old girl infant with BA who had undergone Kasai portoenterostomy. The presence of cartilage could be part of a heterotopia or an uncommon connective tissue metaplasia. The presence of immature cartilage with the merging of the perichondrium with the soft tissue highlights a metaplastic etiology in the index case.

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ABSTRACT Esophageal melanocytosis is a rare entity defined by the proliferation of a melanocytic basal layer of the esophageal squamous lining and deposition of melanin in the esophageal mucosa. Esophageal melanocytosis is considered a benign entity of unknown etiology; however, it has been reported as a melanoma precursor. We report a case of esophageal melanocytosis in a diabetic and hypertensive 67-year-old male with recurrent dizziness and syncope for the past 6 months. Given his complaint of dyspepsia, he underwent an upper gastrointestinal endoscopy, in which an esophageal biopsy revealed the diagnosis of esophageal melanocytosis. The definitive diagnosis of esophageal melanocytosis can only be made by histological analysis. The histologic differential diagnoses include melanocytic nevi and malignant melanoma. Therefore, they need to be ruled out.

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ABSTRACT 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.

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ABSTRACT 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.

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ABSTRACT 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.

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ABSTRACT 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.

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ABSTRACT 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.

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ABSTRACT 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.

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ABSTRACT 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.

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ABSTRACT 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.

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ABSTRACT 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.

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ABSTRACT 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.

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ABSTRACT Giant hepatic hemangiomas are occasional in patients with cirrhosis. It remains a challenge to decide on the need for treatment and choose the most appropriate intervention. A 62-year-old woman was recently diagnosed with cirrhosis and complained of upper abdominal fullness, reduction in oral food intake, and weight loss of 6 kg over the last three years. Upper digestive endoscopy evidenced thin-caliber esophageal varices and significant extrinsic compression of the lesser gastric curvature. Abdominal computed tomography revealed an exophytic tumor in the left hepatic lobe, measuring 11.5 cm, which had progressive centripetal contrast enhancement from the arterial phase, compatible with hepatic hemangioma. Serum tumor markers were negative, and her liver function was unimpaired. The patient underwent surgical resection (non-anatomical hepatectomy of segments II and III) which had no immediate complications, and the histopathological evaluation confirmed cavernous hepatic hemangioma. Two weeks later, she was admitted to the emergency room with jaundice, signs of hepatic encephalopathy, and moderate ascites, and was further diagnosed with secondary bacterial peritonitis. As no perforations, abscesses, or fistulas were observed on subsequent imaging tests, clinical management was successfully carried out. This case highlights that giant hepatic hemangiomas may be symptomatic and warrant treatment. In the setting of cirrhosis and portal hypertension, physicians should be aware of the risk of hepatic decompensation following surgical resection, even in patients with Child-Pugh class A.

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ABSTRACT 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.

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ABSTRACT 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.