Autopsy and Case Reports最新文献

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.

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.

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.

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.

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.

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.

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.

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.