OpenMed/multicare-articles huggingface dataset:
Alcoholic foamy degeneration: an unusual presentation of the alcoholic liver disease diagnosed on autopsy
Authors: Rashmi Joshi, Mayur Parkhi, Anjali Gupta, Terence Susngi, Ashwani Kumar, Deba Prasad Dhibar, Suvradeep Mitra
Journal: Autops Case Rep (2023)
Keywords: autopsy, liver diseases, alcoholic, pancreatitis, acute necrotizing
MeSH terms: Case Reports

Alcoholic foamy degeneration (AFD) is an uncommon presentation of alcoholic liver disease (ALD) with characteristic histologic findings of foamy-looking hepatocytes due to the presence of abundant microvesicles of fat within the cytoplasm predominantly in perivenular and midzonal regions without inflammation and fibrosis. It is underdiagnosed as the patients quickly recover after alcoholic abstinence and are rarely caught on biopsies. AFD has better prognosis than alcoholic hepatitis, and the injury mechanism is different, warranting a different diagnosis. We present an uncommon case of AFD incidentally diagnosed during autopsy in a chronic alcoholic and diabetic man.
High-grade fetal adenocarcinoma of the lung misdiagnosed as male breast carcinoma: a case report and literature review
Authors: Yuejian Zhuo, Yanran Xu, Rong Qin, Min Guo, Dongdong Zhang
Journal: Front Oncol (2023)
Keywords: fetal adenocarcinoma, lung cancer, male breast carcinoma, metastasis, poor prognosis
MeSH terms: Case Reports

Background and aim:
High-grade fetal adenocarcinoma of the lung (HG-FLAC) is a specific subtype of lung adenocarcinoma with a poor prognosis. A lack of understanding exists because of the rarity of this disease. This study aimed to present a case of HG-FLAC with multiple metastases misdiagnosed as male breast carcinoma at the initial diagnosis.
Case presentation:
The patient visited our hospital due to a month-long cough. The chest computed tomography (CT) scan revealed a mass in the left lung and chest wall, accompanied by enlargement of mediastinal lymph nodes. The magnetic resonance imaging indicated potential metastatic lesions in the brain and adrenal glands. The patient underwent a biopsy of the lesion in the right chest wall. The pathological and immunohistochemical findings indicated a high possibility of male breast cancer. However, the clinical features did not support this diagnosis. Therefore, a CT-guided percutaneous lung biopsy was performed, and the pathological examination finally indicated HG-FLAC.
Conclusions:
We presented a complex yet interesting case in which HG-FLAC was misdiagnosed as male breast cancer. Our interesting case may stimulate discussions about the methods to manage patients with HG-FLAC.
Endoscopic approaches to the orbit: Transnasal and transorbital, a retrospective case series
Authors: Cesare Zoia, Eugenia Maiorano, Sara Borromeo, Giorgio Mantovani, Giannantonio Spena, Fabio Pagella
Journal: Brain Spine (2024)
Keywords: endoscopy, orbital surgery, skull base, transnasal, transorbital

Introduction:
Orbital pathologies requiring surgery are traditionally treated by open approach with different techniques depending on the lesion location. Recently, minimally invasive endoscopic approaches, such as the Endoscopic Endonasal Approach (EEA) and the Endoscopic Transorbital Approach (ETA) have been introduced in orbital surgery.
Research question:
The purpose of this study is to report the combined experience of the Neurosurgical and Ear-Nose-Throat (ENT) Units in the endoscopic approach of orbital pathologies.
Material and methods:
We retrospectively retrieved data on patients treated at our Institution between 2016 and 2021 with endoscopic approach for orbital pathologies. The Clavien-Dindo classification and the Scar Cosmesis Assessment and Rating (SCAR) Scale have been used to assess complications and cosmetic outcomes.
Results:
39 patients met the inclusion criteria. EEA (15 patients) or ETA (20 patients) were chosen to approach the lesions. In three cases we used a combination of endoscopic and anterior orbitotomy and in one patient a combination of EEA + ETA. The type of procedure performed was orbital biopsy (9 cases), orbital decompression (6 cases), subtotal resection of the lesion (STR) (8 cases) and total resection of the lesion (GTR) (16 cases). The more frequent postoperative complications were diplopia (5.1%, with 1 case of permanent diplopia), trigeminal paraesthesia and dysesthesia (5.1%), palpebral edema (17.9%), periorbital ecchymosis (7.7%). Mean follow up time was 21 months (range 2-63 months).
Discussion and conclusion:
Endoscopic approaches to orbital compartments provide minimally invasive access to every orbital compartment with low complications rate and good cosmetic outcome.
Unravelling the mystery of the central dentinogenic ghost cell tumor- a rare case report and recurrent insights
Authors: Jagveer Yadav, Mala Kamboj, Anju Devi, Anjali Narwal, Deepti Chhikara, Bhawna Saini
Journal: Autops Case Rep (2024)
Keywords: maxillary neoplasms, odontogenic cyst, calcifying, odontogenic tumors
MeSH terms: Case Reports

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.
Malignant hyperthermia: Report on a successful rescue of a case with the highest temperature of 44.2°C
Authors: Haiyan Lan, Gongchen Duan, Yunxia Zuo, Tianzheng Lou, Junlong Xu, Chuxiao Shao, Jimin Wu
Journal: Open Med (Wars) (2023)
Keywords: ryr1 mutation, case report, malignant hyperthermia, sevoflurane
MeSH terms: Case Reports

Malignant hyperthermia (MH) is an inherited skeletal muscle disorder caused primarily by a genetic mutation, usually in the calcium channel gene of the muscle. This mutation can lead to muscle hypersensitivity to volatile anesthetics (such as sevoflurane) and the depolarizing muscle relaxant succinylcholine, resulting in hyperthermia, muscle stiffness, metabolic disturbances, and other severe physiological reactions. This condition may prove fatal unless it is recognized in its early stages and treatment is administered promptly and aggressively. We report a 13-year-old adolescent who underwent laparoscopic appendectomy and developed MH after the use of inhalational anesthetics, manifested by unremitting hyperthermia with a maximum temperature of 44.2°C, muscle rigidity, tachycardia, hypercapnia; and malignant arrhythmias, cardiogenic shock, hyperkalemia, metabolic, and respiratory acidosis. After early and timely recognition, multidisciplinary management and administration of dantrolene, the case was successfully treated. Exome sequencing revealed a point mutation (amino acid change) on the RYR1 gene: c.12700G>C(p.Val4234Leu). Due to the lack of ready-made dantrolene in our hospital, the patient in this case received dantrolene treatment only 6 h after the first observation of high body temperature. We review the development of the disease and summarize the success of treatment and what can be done to improve the chances of saving the patient's life if dantrolene is not available in time.
Extra-pulmonary Cutaneous Sarcoidosis Presenting With Granulomatous Cranial Lesions and Cardiac Complications: A Case Report
Authors: Paul Q Vu, Prutha R Pathak, Siddharth Patel, Ashish K Basu, Mc Anto Antony, Amogh D Reddy, Jason Mathew
Journal: Cureus (2024)
Keywords: complications of sarcoidosis, cutaneous sarcoidosis, extra-pulmonary manifestations, granulomatous disorder, granulomatous skull bone lesions, high-grade atrioventricular block, multisystemic sarcoidosis
MeSH terms: Case Reports

Sarcoidosis is a non-caseating granulomatous disorder affecting multiple organs. Although the lungs are the most common site of presentation, extra-pulmonary manifestations involving the skin and heart can occur. Sarcoidosis affecting skull bone is uncommon and involvement of skin, heart, and skull bone all together, without pulmonary manifestations, is extremely rare. We report a 63-year-old Caucasian woman with a past history of cutaneous sarcoidosis and granulomatous skull bone lesions who presented with recurrent syncope. An ambulatory cardiac monitor detected intermittent high-grade atrioventricular block and cardiac MRI confirmed the diagnosis of cardiac sarcoidosis. This case represents an extremely unique journey of sarcoidosis and suggests potential consideration for cardiac sarcoidosis screening in patients with a history of extra-cardiac manifestations.
Fetal Wilm's tumor detection preceding the development of isolated lateralized overgrowth of the limb: a case report and review of literature
Authors: Elie Bechara, Chloé Saadé, Caroline Geagea, Daniel Charouf, Pauline Abou Jaoude
Journal: Front Pediatr (2024)
Keywords: beckwith–wiedemann syndrome, cancer, fetal wilms tumor, hemihypertrophy, isolated lateralized overgrowth, polyhydramnios, prenatal diagnosis
MeSH terms: Case Reports

Fetal Wilms tumor (WT) is extremely rare, but with advances in fetal imaging, more cases are being reported. The management of these cases remains challenging. Herein, we present the case of a full-term female infant diagnosed antenatally at 32 weeks of gestation with a right solid renal mass detected on routine prenatal ultrasound without polyhydramnios. At birth, the infant was healthy, with no evidence of dysmorphic features or abnormal laboratory tests to suggest a predisposition syndrome. Her family history was also unremarkable. A successful radical right nephrectomy was performed on day 2 of life revealing a classic WT. She received vincristine as adjuvant chemotherapy without any complications. At the age of 1 month, the infant developed isolated lateralized overgrowth of the right lower limb suspicious of Beckwith-Wiedemann syndrome. At the latest follow-up of 4 years, the child is healthy and disease-free with conserved asymmetry of lower limbs. The case provides insights into the challenging diagnosis and treatment of fetal WT. A review of the literature suggests that the presence of polyhydramnios is a worse prognostic factor while the combination of best supportive care and surgery remains the best management. Fetal WT can be associated with predisposition syndromes; however, their first manifestations can develop after the diagnosis of cancer has been made, as in our patient. We propose starting active surveillance programs and genetic testing for any case of fetal WT.
Case Report: Basaloid Squamous Cell Carcinoma of the Tongue: A Case Report
Authors: Samiha Jameel Ahmed Khan, Madhuri Gawande, Alka Hande, Swati Patil, Archana Sonone, Aayushi Pakhale
Journal: F1000Res (2024)
Keywords: basaloid squamous cell carcinoma, basaloid cells, comedo necrosis ​​, dimorphic pattern
MeSH terms: Carcinoma, Basosquamous / pathology, Carcinoma, Squamous Cell / diagnosis, Case Reports, Aged, Humans, Immunohistochemistry, Male, Tongue

Basaloid squamous cell carcinoma (BSCC) is a rare variant of conventional squamous cell carcinoma (SCC) frequently affecting the upper aerodigestive tract. The hypopharynx, tonsil, supraglottic larynx, tongue (base), and head-neck regions are particularly susceptible to BSCC. Clinically, the presentation of BSCC and conventional SCC is similar, but BSCC has a poorer prognosis. BSCC is distinguished histopathologically by a dimorphic pattern, a distinctive basal cell component paired with a squamous component. However, its similar features to conventional SCC makes it difficult to diagnose. Therefore, histopathology and immunohistochemistry play a crucial role in diagnosing such tumors. Here we present the case of a 70-year-old male diagnosed with BSCC involving the tongue.
Incidental Vascular Lesion in Explanted Liver: A Rare Case Report and Review of the Literature
Authors: Rossana Kazemimood, Shohreh Eliaszadeh, Kenneth Wind
Journal: Case Reports Hepatol (2023)
MeSH terms: Case Reports

Hepatic small vessel neoplasm (HSVN) is a rare vascular hepatic lesion that is usually an asymptomatic incidental finding. Here we present a case of a 66-year-old male with HSVN who was discovered to have a lesion presenting as a small nodule in an explanted liver. HSVN is a recently described hepatic vascular lesion that has been previously underdiagnosed. It has an uncertain long-term malignant potential, so close follow-up is recommended.
Uremic Pericarditis with Cardiac Tamponade in a Patient on Hemodialysis
Authors: Nismat Javed, Marcos Molina, Rabih Nasr, Gilda Diaz-Fuentes
Journal: Case Rep Cardiol (2023)
MeSH terms: Case Reports

Uremic pericardial effusion and pericarditis in end-stage kidney disease patients remain one of the causes responsible for high rates of morbidity and occasional mortality. While clinical presentation could be variable, clinicians should have a high index of suspicion for uremic pericarditis especially in patients who miss their dialysis sessions. We present a 77-year-old man with end-stage renal disease on dialysis diagnosed with pericarditis and large pericardial effusion complicated by cardiac tamponade and shock. He underwent urgent pericardiocentesis with clinical improvement. The course of the disease can be complicated by shock with multiorgan failure, particularly the liver. The presentation is relatively acute requiring a high level of suspicion, urgent diagnosis, and management to reduce mortality. As the geriatric population increases with associated comorbid conditions, it would be expected that patients undergoing dialysis would increase. Given the uncommon nature of the disease and how these patients have been managed by multiple specialties and care providers, it is important to consider dialysis-related complications in all patients with end-stage renal disease presenting with dyspnea.
Case report: The application of neoadjuvant chemoradiotherapy in anal adenocarcinoma combined with perianal Paget disease involving vulvar skin
Authors: Gan-Bin Li, Xiao-Yuan Qiu, Xiao Zhang, Ning Zhang, Guo-le Lin
Journal: Front Oncol (2023)
Keywords: paget disease, anus neoplasms, case report, efficacy, extramammary, neoadjuvant therapy
MeSH terms: Case Reports

Anal adenocarcinoma combined with perianal Paget's disease (PPD) involving the vulva is rare, and there is no established standard treatment. We present the case of a 69-year-old woman with symptoms of intermittent hematochezia and perianal discomfort for 7 months. Upon examination, we discovered a plaque-like hard mass on the right posterior wall of the anal canal, which extended to encompass the anus and dentate line. The lesion skin also extended forward from the gluteal groove, involving the bilateral labial area. Colonoscopy revealed an extensive protruding lesion on the dentate line, which was confirmed as anal adenocarcinoma (mrT4N0M0). The presence of Paget's cells in perianal and vulvar skins led to the diagnosis of PPD. The strategy of neoadjuvant chemoradiotherapy (nCRT) followed by radical surgery was then made after multi-disciplinary discuss. The scope and extent of perianal and vulvar disease were significantly diminished after nCRT. The patient underwent laparoscopic abdominoperineal resection and vulvar lesion resection, confirming the diagnosis of anal adenocarcinoma (ypT2N0). No evidence of tumor cells was found in perianal and vulvar skin, indicating a complete response. The patient is regularly monitored without recurrence or metastasis.
The protean presentations of XK disease (McLeod syndrome): a case series with new observations and updates on previously reported families
Authors: Ruth H Walker, Mariana Barreto, James R Bateman, M Leonor Bustamante, Graham Chiu, Scott Feitell, Beat M Frey, Patricio Guerra, Sofia Guerrero, Hans H Jung, Fernando Maldonado, Eduardo Meyer, Marcelo Miranda, Emelie McFarland, Patricia Oates, Gorka Ochoa, Karin Olsson, Martin Paucar, Jonatan Alvarez Proschle, Esther M Sammler, Monica Troncoso, Rachel Wu-Wallace, Leo Young, Sunitha Vege, Connie M Westhoff, Adrian Danek
Journal: Front Neurosci (2024)
Keywords: mcleod, xk, acanthocytosis, chorea, neurodegeneration

XK disease is a very rare, multi-system disease, which can present with a wide spectrum of symptoms. This disorder can also be identified pre-symptomatically with the incidental detection of serological abnormalities when typing erythrocytes in peripheral blood, or on other routine laboratory testing. Increasing awareness of this disorder and improved access to genetic testing are resulting in increasing identification of affected patients and families. Here we provide updates to some previously-reported families and patients and provide additional clinical details. We also report four new cases with a variety of presentations, one of whom had a novel mutation.
A Case With Typical Clinical Manifestations of Kawasaki Disease and Multisystem Inflammatory Syndrome in Children Temporally Associated With SARS-CoV-2 Infection
Authors: Yasutaka Kuniyoshi, Hikaru Murata, Haruka Tokutake, Natsuki Takahashi
Journal: Cureus (2024)
Keywords: abdominal pain without diarrhea, intravenous immunoglobulin (ivig), kawasaki disease (kd), multisystem inflammatory syndrome in children (mis-c), sars-cov-2 infection
MeSH terms: Case Reports

Whether Kawasaki disease (KD) and multisystem inflammatory syndrome in children (MIS-C) temporally associated with SARS-CoV-2 infection are two distinct syndromes or part of the same spectrum is not fully understood. In this report, we present the case of a five-year-old boy who fully satisfied the diagnostic criteria for both KD and MIS-C associated with SARS-CoV-2 infection. He tested positive for SARS-CoV-2 on an oropharyngeal swab antigen test approximately four weeks before the onset of symptoms. He had severe abdominal pain. Abdominal ultrasound showed ascites. He improved with initial (2 g/kg) and additional (1 g/kg) intravenous immunoglobulin (IVIG) therapy and intravenous methylprednisolone (initial dose, 2 mg/kg/day). Our case may lead to clarification of the pathogenesis of both diseases. Additionally, the recent history of SARS-CoV-2 infection for children with prolonged fever and no clear focus of infection should be checked, and, if present, clinicians should consider MIS-C temporally associated with SARS-CoV-2 infection. IVIG therapy is important for children with MIS-C who meet the diagnostic criteria for KD, even if diagnosed with MIS-C.
Hybrid Lymphovenous Anastomosis Surgery Guided by Intraoperative Mesenteric Intranodal Lymphangiography for Refractory Nontraumatic Chylous Ascites: A Case Report
Authors: Soo Jin Woo, Saebeom Hur, Hee Seung Kim, Hak Chang, Ji-Young Kim, Soo Jin Park, Ung Sik Jin
Journal: Arch Plast Surg (2024)
Keywords: chylous ascites, lymphangiography, lymphovenous anastomosis

Refractory chylous ascites can cause significant nutritional and immunologic morbidity, but no clear treatment has been established. This article introduces a case of a 22-year-old female patient with an underlying lymphatic anomaly who presented with refractory chylous ascites after laparoscopic adnexectomy for ovarian teratoma which aggravated after thoracic duct embolization. Ascites (>3,000 mL/d) had to be drained via a percutaneous catheter to relieve abdominal distention and consequent dyspnea, leading to significant cachexia and weight loss. Two sessions of hybrid lymphovenous anastomosis (LVA) surgery with intraoperative mesenteric lymphangiography guidance were performed to decompress the lymphatics. The first LVA was done between inferior mesenteric vein and left para-aortic enlarged lymphatics in a side-to-side manner. The daily drainage of chylous ascites significantly decreased to 130 mL/day immediately following surgery but increased 6 days later. An additional LVA was performed between right ovarian vein and enlarged lymphatics in aortocaval area in side-to-side and end-to-side manner. The chylous ascites resolved subsequently without any complications, and the patient was discharged after 2 weeks. The patient regained weight without ascites recurrence after 22 months of follow-up. This case shares a successful experience of treating refractory chylous ascites with lymphatic anomaly through LVA, reversing the patient's life-threatening weight loss. LVA was applied with a multidisciplinary approach using intraoperative mesenteric lipiodol, and results showed the possibility of expanding its use to challenging problems in the intraperitoneal cavity.
Case report: Intraretinal hyperflow microinfiltration lesions on swept-source optical coherence tomography angiography as a potential biomarker of primary vitreoretinal lymphoma
Authors: Zhangxing Xu, Haixia Bai, Xin Liu, Junhui Shen, Yongchao Su, Yao Wang
Journal: Front Med (Lausanne) (2024)
Keywords: intraretinal hyperflow microinfiltration lesions, biomarker, primary vitreoretinal lymphoma (pvrl), swept-source optical coherence tomography angiography (ss-octa), vertical hyperreflective lesions (vhrls)
MeSH terms: Case Reports

Primary vitreoretinal lymphoma (PVRL) is often associated with central nervous system involvement, contributing to a heightened mortality rate, thus imaging features that are characteristic enough to be potential biomarkers of PVRL are important, either in diagnosis or in assessment of disease activity. This report details the case of a 68-year-old male who presented with blurred vision in both eyes persisting for 2 months. Fundus examination demonstrated vitreous opacity and multiple subretinal yellow nodular lesions of varying sizes in the peripheral fundus of both eyes. Multiple vertical hyperreflective lesions in the neural retina of posterior pole, indistinct outer retina borders in the fovea, and hyperreflective lesions in the sub-retinal pigment epithelium (RPE) space of the peripheral retina were demonstrated on swept-source optical coherence tomography (SS-OCT) of the left eye. Hyperflow signals corresponding to the vertical hyperreflective lesions were detected on swept-source optical coherence tomography angiography (SS-OCTA) images of retinal deep capillary plexus (DCP) layer. Notably, the hyperflow signals, precisely located around retinal vessels from the nerve fiber layer to the outer plexiform layer, were postulated to stem from the dilation of infiltrated retinal vessels. Vitreous pathological results of the left eye confirmed the diagnosis of PVRL. Treatments with intravitreal methotrexate injections led to a marked improvement of best-corrected visual acuity (BCVA) and regression of the hyperflow microinfiltration lesions demonstrated on SS-OCTA. In conclusion, SS-OCTA effectively delineated the vertical hyperreflective lesions and corresponding hyperflow signals in the posterior pole macular region of a patient with PVRL. These lesions significantly diminished following intravitreal methotrexate injections. We speculated that the specific hyperflow signals on SS-OCTA could act as a potential biomarker of PVRL, and SS-OCTA holds promise in facilitating early diagnosis and monitoring therapeutic responses in PVRL cases.