Resumo em Inglês:

ABSTRACT The Left anterior descending artery (LAD) is a branch of the left main coronary artery which runs obliquely towards the apex of the heart in the anterior interventricular sulcus. Among all of the coronary arteries, the LAD artery has the most constant course. Amongst the anomalies of coronaries, the duplication or bifurcation of the LAD artery is infrequent. The classification of the bifurcation of the LAD has been extensively described in various reports with the widespread use of CT Angiography. We describe herein, an anomalous LAD detected on autopsy. This unusual case highlights the gross autopsy finding of Type-I anomalous dual LAD coronary artery in a young adult who died of Myocardial Infarction.

Resumo em Inglês:

ABSTRACT Sinonasal Undifferentiated carcinoma (SNUC) comprises 3% of the head and neck tumors, including metastatic neoplasms. Herein we report the case of a 60-year-old male who was brought dead to our institute with previous records of a contrast-enhanced CT scan of the brain and MRI with evidence of tumor in the maxillary sinus with intracranial extensions. The histopathological examination of the mass in the maxillary sinus proved to be SNUC with metastases to the brain, lungs, and around the aorta. These tumors are undifferentiated and are distinct from other poorly differentiated tumors in deriving their origin from the Schneiderian epithelium. The aggressive nature of the tumor renders the prognosis quite dismal. SNUCs need to be early recognized and distinguished from other poorly differentiated carcinomas with the help of immunohistochemistry.

Resumo em Inglês:

ABSTRACT Gigantomastia is a rare disease defined by an extreme and rapid enlargement of the breast, generally bilateral. The majority of cases are reported in pregnant women. Ninety-eight cases of gestational gigantomastia have been identified in electronic databases, and those with fatal outcomes comprised only 2 cases (2%). Despite its benign nature, it can lead to severe complications and even death. Its etiology has not been fully elucidated, but it has been speculated that a hormonal component may play a role in the pathogenesis. Currently, treatment options are limited, and surgery is gaining importance, but it is often not feasible in low-resource settings. Herein, we describe a case of a 30-year-old HIV-positive female with no relevant past medical history, who died due to the complications of gestational gigantomastia at the Maputo Central Hospital, in Mozambique.

Resumo em Inglês:

ABSTRACT Giant cell myocarditis (GCM) is a rare and rapidly fatal cardiovascular condition most often seen in young adults. It is characterized microscopically by myocardial necrosis with multinucleated giant cells in the absence of well-defined granulomas. This disorder has typically been attributed to manifest as heart failure, but in some individuals, GCM may present as sudden cardiac death. Herein, we present a fatal case of GCM in a 36-year-old male with a history of autoimmune disorders. The decedent presented to the emergency room due to vomiting and was treated for nausea due to suspected dehydration. He was discharged that night and found dead on his bathroom floor the following day. Postmortem examination revealed psoriasis and granulomatous lesions in the lungs consistent with sarcoidosis, further supporting circumstantial evidence existing between GCM and autoimmune disorders. Additionally, this case provides an opportunity to distinguish GCM from the distinct clinical entity of cardiac sarcoidosis (CS), especially in the setting of systemic sarcoidosis. We hope to raise awareness of this rare disease process and its potential to cause sudden cardiac death so that it may be considered in a differential diagnosis as immunosuppression and early cardiac transplantation largely determine the prognosis.

Resumo em Inglês:

ABSTRACT Infective endocarditis (IE) is a microbial infection of the heart valves or the mural endocardium that leads to the formation of vegetations composed of thrombotic debris and microorganisms often associated with the destruction of the cardiac tissues. Most of the infections are bacterial (bacterial endocarditis), although fungi and other microorganisms can be etiological agents. Causative organisms differ among the major high-risk groups. Virulent microorganisms like Staphylococcus aureus, commonly found on the skin, can infect normal or deformed valves and are responsible for 20-30% of all IE cases. Staphylococcus aureus is the major offender in IE among intravenous drug abusers. Acute infective endocarditis is typically caused by infection of a previously normal heart valve by a highly virulent organism (e.g., Staphylococcus aureus) that rapidly produces necrotizing and destructive lesions. These infections may be difficult to cure with antibiotics, and despite appropriate treatment, death can ensue within days to weeks. Here we present autopsy findings of a 31-year-old male patient who died of acute infective endocarditis caused by Staphylococcus aureus as the causative organism.

Resumo em Inglês:

ABSTRACT Atypical teratoid/rhabdoid tumor (AT/RT) is a rare central nervous system (CNS) tumor diagnosed primarily in infants and usually portends a poor prognosis. Despite being the most common embryonal tumor in children less than 1 year old, diagnosis is difficult to make based on clinical findings or imaging alone. A complete diagnosis of AT/RT requires identification of loss of integrase interactor 1 (INI1) protein or the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily b, member 1 (SMARCB1) gene, in its most common presentation. Moreover, their presentation with other primary rhabdoid tumors in the body raises significant suspicion for rhabdoid tumor predisposition syndrome (RTPS). We report a case of a one-month-old infant admitted for worsening emesis and failure to thrive, who was later found to have brain and bladder masses on radiologic imaging. Autopsy with subsequent immunoprofile and molecular testing were crucial in establishing the absence of INI1 nuclear expression and possible homozygous deletion of SMARCB1 in the urinary bladder tumor tissue. Sequencing of the peripheral blood demonstrated probable single copy loss at the SMARCB1 locus. The constellation of findings in tumor and peripheral blood sequencing suggested the possibility of germline single copy SMARCB1 loss, followed by somatic loss of the remaining SMARCB1 allele due to copy neutral loss-of-heterozygosity. Such a sequence of genetic events has been described in malignant rhabdoid tumors (MRT). Dedicated germline testing of this patient’s family members could yield answers as to whether rhabdoid tumor predisposition syndrome will continue to have implications for the patient’s family.

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ABSTRACT Multicystic encephalomalacia is varying sized cystic lesions in the brain encountered in developing fetuses or infants. These cysts start at the periventricular area and may extend onto the cortex. The cause of the formation of these cystic lesions is secondary to an ischemic or hypoxic insult, which leads to liquefactive necrosis and subsequent formation of gliotic cyst walls having an admixture of microglia. We discuss four autopsy cases that had multicystic encephalomalacia to highlight the scenarios in which these lesions are encountered.

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ABSTRACT We present the first report of two rare yet remarkably similar autopsy cases of Kaposi sarcoma (KS) and intravascular human herpesvirus 8 (HHV8) positive lymphoproliferative disorder in renal transplant patients. It is well established that HHV8 infection causes Kaposi sarcoma (KS). More recently, it is recognized that HHV8 is also related to several lymphoproliferative conditions. These are poorly characterized and often difficult to diagnose. In both cases described herein, the diagnoses of multifocal hepatic KS and intravascular HHV8 positive (EBV negative) systemic diffuse large B-cell lymphoma, NOS were made at autopsy. Given the findings we describe in cases with fatal outcomes, we discuss the implications of HHV8 screening in solid allograft recipients.

Resumo em Inglês:

ABSTRACT The median artery is usually a transient vessel during the embryonic period. However, this artery can persist in adult life as the persistent median artery. This paper aims to describe this relevant anatomical variation for surgeons, review the literature and discuss its clinical implications. A routine dissection was performed in the upper left limb of a male adult cadaver of approximately 50-60 years of age, embalmed in formalin 10%. The persistent median artery was identified emerging as a terminal branch of the common interosseous artery with a path along the ulnar side of the median nerve. In the wrist, the persistent median artery passed through the carpal tunnel, deep in the transverse carpal ligament. The dissection in the palmar region revealed no anastomosis with the ulnar artery forming the superficial palmar arch. The common digital arteries emerged from the ulnar artery and the persistent median artery. Such variation has clinical and surgical relevance in approaching carpal tunnel syndrome and other clinical disorders in the wrist.

Resumo em Inglês:

ABSTRACT Illustrative cases of diseases that are difficult to suspect and diagnose can serve as useful reminders. Invasive pulmonary aspergillosis and adenovirus hepatitis are two such diseases, both revealed by autopsy in this case of Hodgkin lymphoma refractory to chemotherapy treated with allogeneic hematopoietic stem cell transplantation complicated by these two fatal infections. This patient was cured of Hodgkin lymphoma, Clostridioides difficile colitis and thrombotic thrombocytopenic purpura using the marvels of modern medicine. This case illustrates many features of aspergillosis and adenovirus hepatitis, shows the value of autopsy in revealing diagnoses, and illustrates the limits of modern medicine, which should serve as a mental spur in our efforts to advance medical science, to try to defeat the numerous demons of disease, who seem to keep outwitting us.

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ABSTRACT Soft tissue tumors are not uncommon in childhood and comprise entities that range from common to very rare malignancies. Infantile fibrosarcoma (IFS) is a rare pediatric malignancy mainly seen in the first two years of life. The data about the incidence of infantile fibrosarcoma occurring in the neck in the Indian subcontinent is scarce. To the best of our knowledge, only one case of infant cervical IFS has been reported previously in the Indian subcontinent. We present another case of an eight-year-old male patient with a rapidly growing mass on the left side of the neck. He was successfully treated with a combined modality of surgery and chemotherapy with a good outcome. Among the soft tissue tumors of childhood, IFS is a rare entity. It has a good prognosis and lesser chance of distant metastasis as compared to adult fibrosarcoma. Though surgical excision is the mainstay of treatment, chemotherapy also has a significant role in the treatment of primary tumor and metastasis. We discuss the stated case to bring to the notice this uncommon cause, which can be considered as a differential diagnosis of upper cervical swellings. A better understanding of this entity would help in early diagnosis and aggressive treatment, reducing the overall morbidity and mortality.

Resumo em Inglês:

ABSTRACT Primary broad ligament carcinoma is a very rare occurrence with 28 reported cases worldwide, to date. The epidemiology, treatment strategy and prognosis are still uncertain because of the scarcity of cases. Currently, all broad ligament carcinomas are managed similar to epithelial ovarian cancer. We report the case of a 43-year-old female with a prolonged complaint of abdominal pain and intermittent urinary retention, requiring frequent catheterization. She was diagnosed with obstructive right hydroureteronephrosis. The abdominal Contrast Enhanced Computed Tomography (CECT) revealed a well-defined heterogeneous lesion of 2.1х3х3.2cm size in the right lateral and posterior wall of the cervix. An ultrasound (USG)-guided Fine Needle Aspiration Cytology (FNAC) of the mass was done and it was suspected to be malignant. The patient underwent total abdominal hysterectomy, right salpingo-oophorectomy, pelvic lymph-nodal sampling, and peritoneal washing. Histological examination depicted an endometrioid adenocarcinoma of the broad ligament. She received adjuvant chemotherapy, followed by hormonal therapy. It has been five years since her surgery, and she is now alive and disease free.

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ABSTRACT Ochronosis is a cutaneous disorder caused by the accumulation of phenols, either endogenously as homogentisic acid in patients with alkaptonuria (autosomal recessive disorder with deficiency of the enzyme homogentisic acid oxidase), or exogenously in patients using phenol products such as topical creams containing hydroquinone or the intramuscular application of antimalarial drugs. Exogenous ochronosis (EO) typically affects the face and was reported in patients with dark skin such as Black South Africans or Hispanics who use skin-lightening products containing hydroquinone for extended periods. Recently more cases have been reported worldwide even in patients with lighter skin tones, to include Eastern Indians, Asians, and Europeans. However, just 39 cases of EO have been reported in the US literature from 1983 to 2020. Here we present two cases; a 69 and a 45-year-old female who were seen for melasma, given hydroquinone 4% cream daily and tretinoin 0.05%. Both patients noticed brown spots on their cheeks, which progressively enlarged and darkened in color. The diagnosis of ochronosis was confirmed by characteristic histopathological features on the punch biopsy. Unfortunately, neither patient responded to multiple treatments (to include, tazarotene 0.1% gel and pimecrolimus ointment, topical corticosteroids, and avoidance of hydroquinone containing products). We also present a case of classic (endogenous) ochronosis in a patient with alkaptonuria to picture the histological similarities of these two entities. EO is an important clinical consideration because early diagnosis and treatment may offer the best outcome for this notoriously refractory clinical diagnosis.

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Abstract Neuroblastoma (NB) is a solid tumor of the sympathetic nervous system, most commonly found in childhood, standing for 7% of all pediatric malignancies. The incidence in adults is markedly smaller: 1 case per 10 million adults per year. We report the case of a previously healthy 27-year-old woman who started with lumbar pain, asthenia, and abdominal distension over the last month. A chest and abdomen tomography scan showed a huge mass in the upper left hemithorax and marked hepatomegaly. The diagnosis was confirmed by hepatic and lung biopsies. On day 4, after admission, the patient started chemotherapy. On the following days, she had severe vaginal bleeding, epistaxis, worsening of the hepatic function markers, refractory shock, and multiple organ dysfunction. She died on the twelfth day of admission. We also present a review of adult cases of NB reported in the past 5 years.

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ABSTRACT We describe a scarcely reported case in which ulcerative colitis (UC) occurred in the postpartum period. The aims of this case report are to reinforce the recent assertion that a diet is a ubiquitous environmental factor in inflammatory bowel disease (IBD) and that a plant-based diet (PBD) is recommended for IBD. A 29-year-old woman normally delivered her first child. She first noticed bloody diarrhea 4.5 months after delivery. She was diagnosed with UC (left-sided colitis, moderate severity). Sulfasalazine induced remission. She then experienced and learned about PBD during an educational hospitalization. She resumed breast-feeding and stopped medication. An interview and questionnaire revealed a change in her diet 3 months after delivery, from a sound diet (plant-based diet score: 25) to an unhealthy diet (score: 9). It happened along with a change in residence, from her parent’s home where her mother prepared traditional Japanese meals to her home where she prepared meals by herself. A feeling of release from childbirth prompted her to eat sweets and cheese despite being aware that the quality of the meals deteriorated. We described a scarcely reported case in which UC occurred in the postpartum period. It happened along with a change in her diet, from a sound diet to an unhealthy diet due to a feeling of release from childbirth. She replaced an omnivorous diet by PBD and stopped medication. The critical role of diet is largely ignored by healthcare professionals. We believe that greater appreciation of diet will change and improve management of IBD.

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ABSTRACT Glomus tumor (GT) is a benign mesenchymal tumor with an estimated incidence of 1.5 to 2% of soft tissue tumors. The majority of glomus tumors are benign and are mostly seen in the superficial skin & soft tissue of upper and lower distal extremity. The malignant variant of the glomus tumor is scarce. We report a case of a recurrent glomus tumor diagnosed in a 28-year-old male patient, who complained of painful swelling in the proximal phalanx of the right index finger. The magnetic resonance imaging of the hand revealed a well-defined multilobulated soft tissue mass at the palmar aspect of the 2nd digit along the shaft of the proximal phalanx. Histopathology revealed a well-circumscribed tumor arranged in solid sheets, nests and cords interconnect by vessels of varying size. The tumor cells were round to oval, showed moderate nuclear pleomorphism, eosinophilic cytoplasm, atypical mitoses (>5/10HPF), and necrosis. Immunohistochemically tumor cells reveal diffuse and strong cytoplasmic positivity with smooth muscle actin (SMA). Based on histomorphology and immunohistochemistry, a final diagnosis of malignant glomus tumor was made. We report this case due to its rarity, and it to be included among the differential if the lesion is painful and recurrent.

Resumo em Inglês:

ABSTRACT Synovial chondromatosis (SC) in the temporomandibular joint (TMJ) is an uncommon entity, mostly when the involvement is bilateral. The authors report a rare case of bilateral SC, with a follow-up of 13 months, and a literature review. A 60-year-old Caucasian woman, with the chief complaint of pain for 6 years in the bilateral pre-auricular region, had a progressive clacking and discomfort on the left side during mouth opening. The panoramic image was suggestive of SC. The bilateral lesion was surgically removed by direct access. Histopathological examination confirmed the clinical diagnosis of bilateral SC. This article shows the importance of a multidisciplinary approach for the early diagnosis and appropriate treatment. Also, it encourages the referral of such cases to professionals with a greater familiarity with this entity.

Resumo em Inglês:

ABSTRACT Intrauterine bony fragments (IUBF) are an unusual finding in hysterectomy specimen received in a histopathology laboratory. Females harboring IUBF may present non-specific symptoms like vaginal bleeding, leukorrhea, chronic pelvic pain, and secondary infertility. Herein we report the case of a 35-year-old female who presented vaginal discharge and bleeding for two years, since when she had an abortion. Later, hysterectomy specimen revealed bone pieces in the uterine cavity.

Resumo em Inglês:

ABSTRACT Epithelioid angiomyolipoma is an uncommon subtype of renal angiomyolipoma associated with potentially malignant behavior and is considered a distinct entity by the World Health Organization classification of renal tumors. We present a case of an epithelioid variant of angiomyolipoma with extension into the renal vein, inferior vena cava reaching up to the right atrium. Pre-operatively, a diagnosis of renal cell carcinoma was considered based on imaging findings. Intra-operatively due to extensive adhesions, surgical resection was not performed and only tissue sampling was performed for histopathology. Microscopic examination revealed short fascicles of spindle cells and perivascular epithelioid cells. A differential diagnosis of renal cell carcinoma with sarcomatoid differentiation was considered. The immunohistochemical profile showed tumor cells that express Melan-A and smooth muscle actin, while they were negative for pan-cytokeratin, PAX8, CK7, CD117 and CD34. Therefore a diagnosis of epithelioid angiomyolipoma was rendered. The presence of intravascular thrombi on radiological investigation and carcinoma-like growth pattern on light microscopy may compound an erroneous diagnosis of renal cell carcinoma. Hence, it is prudent for the urologist to consider differential diagnosis other than renal cell carcinoma when confronted with a renal neoplasm presenting with intravascular thrombi. In these cases, a core biopsy should be planned pre-operatively and diagnosis should be made with aid of appropriate immunohistochemical markers.

Resumo em Inglês:

ABSTRACT Atrial myxomas are rare primary cardiac tumours with neurological manifestations being reported in 30% of cases. Though a rare cause of ischemic stroke in young patients, considering it as a possibility in absence of any obvious risk factors can help avoid misdiagnosis at early stages. We present a case of left atrial myxoma in a 36-year-old male with no known co-morbidities, showing an unusual clinical presentation of isolated bilateral painless vision loss. With multiple infarcts on Non Contrast Computerised Tomography (NCCT) and a suspicion of Atrial Myxoma on Transesophageal Echocardiography (TEE), patient was successfully managed surgically with confirmation of diagnosis on histopathology.

Resumo em Inglês:

ABSTRACT There is scant information about the comprehensive distribution of dystrophic muscles in muscular dystrophy. Despite different clinical presentations of muscular dystrophy, a recent multi-center study concluded that phenotypic distribution of dystrophic muscles is independent of clinical phenotype and suggested that there is a common pattern of involved muscles. To evaluate this possibility, the present case report used cadaveric dissection to determine the whole-body distribution of fat-infiltrated, dystrophic muscles from a 72-year-old white male cadaver with adult-onset, late-stage muscular dystrophy. Severely dystrophic muscles occupied the pectoral, gluteal and pelvic regions, as well as the arm, thigh and posterior leg. In contrast, muscles of the head, neck, hands and feet largely appeared unaffected. Histopathology and a CT-scan supported these observations. This pattern of dystrophic muscles generally conformed with that described in the multi-center study, and provides prognostic insight for patients and the physicians treating them.

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ABSTRACT Chronic infection by hepatitis C virus (HCV) can lead not only to the development of hepatic cirrhosis, but also to the emergence of extra-hepatic manifestations (EHMs), such as oral lichen planus (OLP). Here, we describe a clinical presentation of massive, erosive OLP in an HCV-positive patient whose clinical management was difficult. Full remission was achieved after sustained virological response by using direct-acting anti-retrovirals. This case report demonstrates not only the importance of diagnosing EHMs for identification of HCV infection, but also the importance of controlling it for management of OLP and EHMs.