Abstract in English:ABSTRACT We describe an autopsy case of a 45-year-old male diagnosed with autosomal dominant polycystic kidney disease who presented with complaints of altered sensorium. The autopsy revealed multiple tumor-like masses in the liver, which on histological examination depicted multiple large suppurative granulomas with the presence of variable acid-fast coccobacilli (consistent with Brucella spp.). Interestingly, extensive amyloid deposition in multiple organs was noted. To the best of our knowledge, this is the first case of chronic brucellosis causing tumor-like abscesses in the liver accompanied by secondary systemic amyloidosis in a patient with underlying autosomal dominant polycystic kidney disease.
Abstract in English:ABSTRACT Pulmonary artery aneurysm is a disorder of varying etiology and should be diagnosed early for appropriate interventions. A 45-year-old man was hospitalized for chest pain, dyspnea, cough, chills, diarrhea, and vomiting, which had started 3 weeks before admission. Physical examination indicated a reduced vesicular murmur in the right hemithorax. A chest x-ray performed indicated a pneumothorax and pulmonary abscess in the right hemithorax. Thoracostomy released abundant purulent and fetid fluid. Direct examination of the pleural fluid using saline revealed structures similar to Trichomonas. Non-contrast chest computed tomography revealed right pneumothorax along with an irregular cavitation located at the pleuropulmonary interface of the posterior margin of the right lower lobe. A pleurostomy was performed. On the second postoperative day, the patient suffered a sudden major hemorrhage through the surgical wound and died on the way to the operating room. The autopsy revealed an abscess and ruptured aneurysm of the lower lobar artery in the lower right lung. Microscopic examination revealed extensive liquefactive necrosis associated with purulent inflammation and the presence of filamentous fungi and spores. This case can be characterized as a severe disorder that requires early diagnosis to achieve a good therapeutic response and to avoid fatal outcomes.
Abstract in English:ABSTRACT Pulmonary alveolar microlithiasis (PAM) is a rare entity, presenting mostly as an incidental finding. This disease has an autosomal recessive inheritance with inactivating mutations in the gene “solute carrier family 34 member 2”. The present study was conducted to bring attention to this rare though preventable disease. The study was a cross-sectional descriptive study, conducted at the Department of Pathology, of a tertiary care hospital in New Dehli-India. PAMs were incidentally seen in two patients diagnosed with micronodular hepatic cirrhosis leading to reanalysis of 212 autopsies, retrospectively. Statistical analysis was done using Stata 14.0. We observed three forms (Type A, B and C) of round hyaline bodies measuring in diameter with thin delicate, radiating fibrils. These bodies were PAS positive, showed black discolouration of the pigment with von Kossa stain and birefringence on polarized microscopy using Congo red stain, however the refringence was light green as compared to apple green birefringence seen with amyloid deposition. PAM has a slow progressive course leading to a high rate of incidental detection. Drugs known to inhibit the micro-crystal growth of hydroxyapatite may slow the disease progression. The family members of patients with PAM may also be kept on follow up with regular imaging. Key messages: It is important to bring out the incidental finding as, seemingly innocuous observations may provide valuable insight into incurable diseases, especially rare diseases.
Abstract in English:ABSTRACT Lipoid pneumonia is a rare form of pneumonia which was initially described to be caused by inhalation or aspiration of fatty substances. Certain autopsy studies have reported the incidence to be 1.0-2.5%. Based on the mode of lipid acquisition, it has been classified into endogenous, exogenous or idiopathic types. Almost 50% of the patients with lipoid pneumonia are asymptomatic, and may be discovered by chance during routine chest imaging. In symptomatic patients, the symptoms are non- specific. However, it can produce inflammatory pneumonitis that can progress to irreversible pulmonary fibrosis as seen in our case. We present a case of a 53-year-old deceased male. A piece of one of his lungs was received after autopsy, which appeared normal grossly. There was no history of any illness before death. Microscopy revealed interstitial fibrosis with collection of foamy macrophages in alveolar spaces and cholesterol crystals surrounded by inflammatory reaction including occasional giant cells. The clinical picture and radiologic changes in cases of lipoid pneumonia can mimic bacterial pneumonia and tuberculosis. The occupational history is of extreme importance and should always be investigated.
Abstract in English:ABSTRACT Phosphorus is a nonmetallic irritant used in various sectors like rodenticide, firecracker industries, match industries, and fertilizers. Phosphorus poisoning is responsible for deaths among children and adults. Accidental yellow phosphorus poisoning is frequently reported in children, whereas suicidal consumption is not uncommon amongst adults. Herein, we present the case of a 30-year-old female patient who ingested Ratol paste containing yellow phosphorus in an attempt to commit suicide. Her initial chief complaints were nausea, vomiting along with loose motion during hospitalization, followed by a symptomless phase with stable vitals on the 2nd day, and managed conservatively. She took discharge against the medical advice. Later on, she was readmitted in the same hospital, after two days, complaining of generalized weakness, bodily pain, drowsiness, loss of appetite, and breathing difficulties. She developed severe complications due to the intoxication and died. An autopsy was performed. The histopathological and the toxicological examination were carried out. We found characteristic features in different organs due to yellow phosphorus toxicity. We concluded the cause of death as hepatic encephalopathy and multi-organ dysfunction syndrome caused by the yellow phosphorus poisoning.
Abstract in English:ABSTRACT Mucormycosis is an increasingly frequent, difficult to diagnose, difficult to treat, often fatal infection, especially in patients with hyperglycemia from uncontrolled diabetes. Type I (von Gierke) glycogen storage disease is due to inherited deficiency of enzymes in glycogen metabolism, which causes hypoglycemia. This report is the case of a patient with von Gierke disease and a missed diagnosis of pulmonary mucormycosis. This report illustrates the importance of having a high index of suspicion for mucormycosis in the appropriate clinical context.
Abstract in English:ABSTRACT Mucosa-associated lymphoid tissue (MALT) lymphoma is the most common type of extra-nodal non-Hodgkin lymphoma, which mostly involves the stomach. The clinical suspicion and diagnosis are often challenging because of the lack of specific symptoms and conventional endoscopic findings. Three magnifying endoscopic signs of the gastric mucosa have been described as highly specific to the diagnosis of MALT lymphoma, such as (i) tree-like appearance of the microvessels; (ii) non-structural area; and (iii) ballooning crypt pattern. We report the case of a middle-aged woman in which these signs appeared chronologically over a period of 2 years, showing the association of the sequence of the endoscopic findings and the final histological diagnosis of gastric MALT lymphoma.
Abstract in English:ABSTRACT Tailgut cysts (TGCs) are rare congenital entities arising from remnants of the embryological postanal primitive gut. Malignancy in TGCs is rare, with the majority being adenocarcinomas and carcinoid tumors. A search of the published literature yielded only 27 cases of adenocarcinoma developing in TGCs. We described the case of a 54-year-old female who presented with complaints of pelvic and perineal pain of several weeks. After the initial work-up, a mass in the right presacral location was diagnosed. She underwent radical resection of the tumor, using a posterior approach. The lesion was removed en bloc with the middle rectum, coccyx, and sacrum (S4–S5). The histopathologic examination revealed an adenocarcinoma arising in a TGC, and the patient received adjuvant chemoradiotherapy. Our case underlines that diagnosing a TGC is difficult as it is a rare congenital lesion. Clinical examination may be challenging as TGCs present with various symptoms, which can mimic other commonly proctologic disorders. Patients should be referred to a tertiary center with experience in pelvic surgery and must be managed by a multidisciplinary approach to maximize successful treatment. The recommended treatment is surgical excision given the malignant potential of TGCs and their risk of causing local complications.
Abstract in English:ABSTRACT Peripheral Ameloblastoma (PA) is a benign odontogenic tumor, arising from the cell rest of Serres, reduced enamel epithelium and basal cells of the surface epithelium. Peripheral ameloblastoma is a rare odontogenic neoplasm occurring commonly in the mandibular gingiva. PA clinically resembles other peripherally occurring lesions like pyogenic granuloma, peripheral ossifying fibroma, peripheral giant cell granuloma, and squamous papilloma. The recurrence rate of PA is 16-19% which demands a straight follow up. We report a case of recurrent peripheral ameloblastoma occurring in a 72-year old male located in the mandibular lingual gingiva in relation to the 44, 45 element’s regions. The patient had a primary lesion excised from the same site 6 years before which was diagnosed as ameloblastoma.
Abstract in English:ABSTRACT Hereditary gingival fibromatosis (HGF) is a rare genetic condition characterized by slow and progressive gingival enlargement. The gingival overgrowth often delays teeth eruption and may cause serious functional and aesthetic problems. We reported a case of a 10-year-old female child presenting a generalized gingival enlargement covering almost all the maxillary and mandibular teeth and resulted in problems for swallowing, speaking, and poor aesthetics. An incisional biopsy was performed and revealed a hypocellular and hypovascular dense collagenous tissue covered by squamous epithelium exhibiting acanthosis and elongated rete ridges. The diagnosis was HGF. The treatment instituted was an association of gingivectomy with a rigorous program of oral hygiene and follow-up. Herein, we describe a rare non-syndromic case of generalized HGF, including clinical and microscopical features, as well as highlighting the importance of correct diagnosis of this genetic condition.
Abstract in English:ABSTRACT Actinomycosis is an uncommon, endogenous, and chronic infection with varied and nonspecific clinical features such as abdominal, pelvic or cervical masses, ulcerative lesions, abscesses, draining fistula, fibrosis, and constitutional symptoms. The disease ensues when the bacteria disrupt the mucosal barrier, invade, and spread throughout interfascial planes. Currently, the diagnosis of actinomycosis is challenging because of its very low frequency and depending on the clinical presentation it may masquerade malignancies. Therapy consists initially in intravenous penicillin, followed by an oral regimen that may be extended until a year of treatment. A timely diagnosis is crucial to avoid extensive therapeutic attempt as surgery. However, a biopsy or drainage of abscesses and fistula’s tract may be required not only as a diagnostic procedure as part of the therapy. We report the case of a 72-year-old woman with an abdominal mass initially misdiagnosed as a liposarcoma. A second biopsy of a skin lesion of the abdominal wall made the diagnosis of actinomycosis, avoiding a major surgical procedure. The patient was treated with a long-term course of antibiotics with favorable outcome. Liposarcoma was ruled out after the patient’s full recovery with antibiotics and the misdiagnosis was credit to the overconfidence on the immunohistochemical positivity to MDM2.
Abstract in English:Abstract Acute esophageal necrosis (AEN) also known as “black esophagus” or “acute necrotizing esophagus” is a rare entity characterized by striking endoscopic findings of circumferential black coloring of the esophagus. AEN most frequently seen in the distal esophagus and can extend proximally along the entire esophagus. Characteristically, the circumferential black mucosa stops abruptly at the EGJ. AEN tends to present as acute upper gastrointestinal bleeding, though other symptoms including dysphagia and epigastric pain have been described. The etiology of AEN is multifactorial including a combination of ischemic insult, mucosal barrier defect, and a backflow injury of gastric secretions. Described is a case of AEN in a patient with history of uncontrolled diabetes who presented with an atypical chest pain mimicking acute coronary syndrome with negative subsequent cardiovascular workup.
Abstract in English:ABSTRACT Lymphoepithelial-like carcinoma (LEC) is a rare malignant neoplasm, which can be associated with Epstein-Barr virus (EBV) infection. Histologically, LEC is an undifferentiated carcinoma with an intermixed reactive lymphoplasmacytic infiltrate. LEC appears to be an uncommon tumor type of lip carcinoma. An 82-year-old white woman presented a lesion on her lower lip that developed over the last year. The lesion was characterized by ulceration with flat edges, hardened base, painful, and absence of regional lymphadenopathy. Microscopical analysis evidenced an intense inflammatory infiltrate, composed of lymphoplasmacytic cells, associated with scarce pleomorphic epithelial cells. Immunohistochemistry highlighted the LEC cells with strong expression of pan-CK AE1/AE3, EMA, p63, and p53. CD138 was also faintly positive. Ki-67 was >85%. In situ hybridization analysis did not show evidence of EBV. A diagnostic of EBV-negative LEC was made. We present an uncommon type of lip carcinoma, which can represent a diagnostic challenge for clinicians and pathologists.