OpenMed/multicare-articles huggingface dataset:
Diagnosis and Management of Interstitial Lung Disease in Patients with Connective Tissue Diseases
Authors: Matthew Koslow, Mehrnaz Maleki-Fischbach, Rebecca C Keith
Journal: Case Rep Rheumatol (2021)
MeSH terms: Case Reports

Interstitial lung disease (ILD) associated with connective tissue diseases (CTDs) is highly heterogeneous in its clinical presentation and course. The diagnosis and management of CTD-ILD require a multidisciplinary approach involving, at minimum, a rheumatologist, a pulmonologist, and a radiologist. Close monitoring of patients with CTD-ILD is important to enable early detection of disease progression and inform decisions regarding the initiation or escalation of pharmacotherapy. In the absence of guidelines regarding how CTD-ILDs should be treated, clinicians face difficult decisions on when to use immunosuppressant and anti-fibrotic therapies. The importance of a multidisciplinary and individualized approach to the diagnosis and management of CTD-ILD is highlighted in the three case studies that we describe in this article.
A clinical report of nonsyndromic concomitant hypo-hyperdontia
Authors: Siddarth Gupta, Hashmat Popat
Journal: Case Rep Dent (2013)

Although hypodontia and supernumerary teeth are often considered as mutually exclusive conditions, this case report presents an unusual case of hypodontia and a supernumerary tooth occurring simultaneously. An adolescent male was referred to the local hospital department regarding upper arch crowding. Plain film radiographs confirmed the congenital absence of both lower lateral incisors in addition to an unerupted conical supernumerary tooth in the maxillary midline. This condition has been called hypo-hyperdontia and in this paper, we discuss the clinical findings and treatment planning considerations in relation to the limited number of previously reported cases. The case report raises awareness of concomitant hypo-hyperdontia and serves to highlight that concomitant anomalies should be excluded when hypodontia or supernumerary teeth are diagnosed.
Cocaine-Induced Delayed Myocardial Infarction Complicated by Apical Thrombus
Authors: Rafay Khan, Sabrina Arshed, Waqas Jehangir, Shuvendu Sen, Abdalla Yousif
Journal: J Clin Med Res (2016)
Keywords: acute coronary syndrome, cocaine, myocardial infarction, thrombus
MeSH terms: Case Reports

It is well demonstrated in the literature that cocaine use has been well linked to the formation of various forms of acute and chronic cardiovascular problems including but not limited to acute coronary syndromes. However, cocaine has been commonly associated with coronary vasospasms and less commonly with myocardial infarction and the formation of atrial thrombus. Through this case presentation, we illustrate the findings of a 35-year-old gentleman with history of cocaine use presenting with acute coronary syndrome and complicated by thrombus formation. Furthermore, through this report, we illustrate in a patient with no other risk factors and at a young age, how chronic cocaine use or even a history of usage may result in complications even weeks after its consumption.
Mature cystic teratoma of liver
Authors: Richa Gupta, Kalpana Bansal, Vivek Manchanda, Ruchika Gupta
Journal: APSP J Case Rep (2013)
Keywords: histopathology, liver, mature teratoma
MeSH terms: Case Reports

A four-year-old boy presented with constipation and mild abdominal distention for one year. Radiologic investigations showed a multiloculated cystic lesion in the caudate lobe of liver with focal calcification in the wall. The child underwent laparotomy with marsupialization of the cystic lesion. Histopathologic examination showed mature teratoma of liver.
Case Report: Antiangiogenic Therapy Plus Immune Checkpoint Inhibitors Combined With Intratumoral Cryoablation for Hepatocellular Carcinoma
Authors: Xin Li, Jiahua Xu, Xiaoqiang Gu, Ling Chen, Qing Wu, Hongwei Li, Haoran Bai, Jinzu Yang, Jianxin Qian
Journal: Front Immunol (2021)
Keywords: antiangiogenic therapy, case report, cryoablation, hepatocellular carcinoma, immune checkpoint inhibitors
MeSH terms: Antibodies, Monoclonal, Humanized / therapeutic use, Antineoplastic Combined Chemotherapy Protocols / therapeutic use, Carcinoma, Hepatocellular / therapy, Immune Checkpoint Inhibitors / therapeutic use, Immunotherapy / methods, Liver Neoplasms / therapy, Neovascularization, Pathologic / drug therapy, Phenylurea Compounds / therapeutic use, Quinolines / therapeutic use, Case Reports, Research Support, Non-U.S. Gov't, Adult, Combined Modality Therapy, Cryosurgery, Humans, Male, Neoplasm Metastasis, Neoplasm Recurrence, Local, Remission Induction, Antibodies, Monoclonal, Humanized, Immune Checkpoint Inhibitors, Phenylurea Compounds, Quinolines, toripalimab, lenvatinib

Background:
Hepatocellular carcinoma (HCC) is a common gastrointestinal malignancy with high incidence and poor prognosis. Common treatment methods include surgery, transcatheter arterial chemoembolization (TACE), ablation, and targeted therapy. In recent years, combination treatment with antiangiogenic therapy and immune checkpoint inhibitors has made great progress in the treatment of advanced HCC. Here, we report the case of a patient with HCC who achieved a durable benefit from anti-vascular therapy and immune checkpoint inhibitors combined with intratumoral cryoablation.
Main body:
A 38-year-old male patient initially presented with severe abdominal pain that was identified as an HCC rupture and hemorrhage by computed tomography (CT). The patient underwent emergency surgery and postoperative pathology confirmed HCC. The patient received prophylactic TACE after surgery. Unfortunately, three months after surgery, the patient developed multiple liver metastases. Subsequently, he received systemic anti-vascular therapy and immune checkpoint inhibitors combined with intratumoral cryoablation. After treatment, the patient achieved extensive tumor necrosis and the disease was effectively controlled.
Conclusions:
Anti-angiogenic therapy and immune checkpoint inhibitors combined with cryoablation can induce a powerful and effective systemic anti-tumor immune response, which is worthy of further research.
Soft Palate Pleomorphic Adenoma of a Minor Salivary Gland: An Unusual Presentation
Authors: C T Forde, R Millard, S Ali
Journal: Case Rep Otolaryngol (2018)
MeSH terms: Case Reports

Approximately 10% of pleomorphic adenomas occur in the minor salivary glands with the palate being the most common site. Pleomorphic adenomas account for the majority of palatal tumours; however, minor salivary gland tumours have a higher risk of malignancy compared to tumours of the major salivary glands, so appropriate diagnostic evaluation should be prompt. We present a case of a 52-year-old man with a longstanding history of a soft palate pleomorphic adenoma which required excision under general anaesthetic via a mandibular swing approach. As well as the surgical approach to access this tumour; this case is unique as it is the largest soft palate pleomorphic adenoma reported in the literature. We discuss the appropriate preoperative investigations and airway considerations for this patient, as well as the factors to consider when planning operative management of palatal tumours.
Acute unilateral hearing loss as an unusual presentation of cholesteatoma
Authors: Daniel Thio, Shahzada K Ahmed, Richard C Bickerton
Journal: BMC Ear Nose Throat Disord (2005)

Background:
Cholesteatomas are epithelial cysts that contain desquamated keratin. Patients commonly present with progressive hearing loss and a chronically discharging ear. We report an unusual presentation of the disease with an acute hearing loss suffered immediately after prolonged use of a pneumatic drill.
Case presentation:
A 41 year old man with no previous history of ear problems presented with a sudden loss of hearing in his right ear immediately following the prolonged use of a pneumatic drill on concrete. The cause was found to be a fractured long process of incus which had been eroded by the presence of an attic cholesteatoma. A tympanomastoidectomy and ossiculoplasty was performed with good result.
Conclusion:
Cholesteatomas may be asymptomatic and insidious in their onset. This case illustrates the point that an indolent disease such as this may present in unusual ways and the clinician must always have a high index of suspicion combined with thorough assessment and examination of every patient.
Pneumoscrotum as complication of blunt thoracic trauma: a case report
Authors: Eftychios Lostoridis, Konstantinos Gkagkalidis, Nikolaos Varsamis, Nikolaos Salveridis, Georgios Karageorgiou, Spyridon Kampantais, Paraskevi Tourountzi, Konstantinos Pouggouras
Journal: Case Rep Surg (2013)

Introduction. Pneumoscrotum is a rare clinical entity. It presents with swollen scrotal sac and sometimes with palpable crepitus. It has many etiologies. One of them is due to blunt trauma of the thoracic cage, causing pneumothorax and/or pneumomediastinum. Case Presentation. We report the case of an 82-year-old male who was transferred to the Emergency Department with signs of respiratory distress after a blunt chest trauma. A CT scan was obtained, and bilateral pneumothoraces with four broken ribs were disclosed. Subcutaneous emphysema expanding from the eyelids to the scrotum was observed, and a chest tube was inserted on the right side with immediate improvement of the vital signs of the patient. Discussion. Pneumoscrotum has three major etiologies: (a) local introduction of air or infection from gas-producing bacteria, (b) pneumoperitoneum, and (c) air accumulation from lungs, mediastinum, or retroperitoneum. These sources account for most of the cases described in the literature. Treatment should be individualized, and surgical consultation should be obtained in all cases. Conclusion. Although pneumoscrotum itself is a benign entity, the process by which air accumulates in the scrotum must be clarified, and treatment must target the primary cause.
Case Report: Lower Limb Muscle Weakness in a Child With Kawasaki Disease
Authors: Lilin Huang, Shumei Peng, Jing Li, Danyu Xie
Journal: Front Pediatr (2022)
Keywords: kawasaki disease, child, muscle weakness, myositis, systemic vasculitis
MeSH terms: Case Reports

Kawasaki disease (KD) is a systemic vasculitis that may impact multiple organ systems in children. Myositis is an unusual presentation of KD that presents with muscle weakness. To date, a few pediatric patients with KD and myositis have been reported. Diffuse muscle weakness involving the 4 limbs was the most common presentation in these children. However, isolated lower limb involvement was rarely reported before. Here, we report lower limb muscle weakness in an 18-month-old child with KD. He presented with fever, rash, conjunctival injection, peeling over fingers and toes, and progressive muscle weakness of the lower limbs. Muscle enzymes were normal, but electromyography indicated myositis. The symptom of fever was relieved quickly by intravenous immunoglobulin and aspirin, which were ineffective for myositis. However, lower limb muscle weakness fully recovered 5 days after prednisolone treatment. This rare case might add value to the growing literature exploring the association of KD with myositis.
Nontraumatic Laryngeal Fractures: Report of Two Cases and Review of the Literature
Authors: Alfredo Santamaría, Ricardo Alarcón, Ilson Sepúlveda, Felipe Fredes
Journal: Case Rep Otolaryngol (2017)
MeSH terms: Case Reports

Laryngeal fractures occur mainly in the context of cervical trauma, hanging, or strangulation. Nontraumatic laryngeal fractures are rare and there are few reports in the literature. We present two cases of nontraumatic laryngeal fractures evaluated in our service.
Delayed Diagnosis, Difficult Decisions: Novel Gene Deletion Causing X-Linked Hypophosphatemia in a Middle-Aged Man with Achondroplastic Features and Tertiary Hyperparathyroidism
Authors: Yun Ann Chin, Yi Zhao, Gerald Tay, Weiying Sim, Chun Yuen Chow, Manju Chandran
Journal: Case Rep Endocrinol (2021)
MeSH terms: Case Reports

X-linked hypophosphatemia (XLH) is the most prevalent form of hereditary hypophosphatemic rickets associated with phosphate wasting. However, its diagnosis is often missed, resulting in patients presenting late in the course of the disease when complications such as tertiary hyperparathyroidism and renal failure have already set in. Phosphate and calcitriol replacement, both of which have undesirable consequences of their own, have historically been the main stay of therapy. We describe the case of a 57-year-old gentleman with tertiary hyperparathyroidism, who was mislabelled as having achondroplasia for many years before we made a diagnosis of XLH in him. His XLH was found to be due to a hereto unreported deletion of entire exon 14 with partial deletions of introns 13 and 14 of the PHEX gene. Perioperative management in him was fraught with surgical and medical difficulties including an operation that was technically complicated due to his multiple anatomical deformities. Our case also highlights the critical importance of timely recognition and accurate diagnosis of XLH, as well as the long-term multidisciplinary management that is needed for this disorder.
Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts
Authors: Sahar Mansour, Katherine S Josephs, Pia Ostergaard, Kristiana Gordon, Malou Van Zanten, Julian Pearce, Steve Jeffery, Vaughan Keeley, Katie Riches, Alexander Kreuter, Ulrike Wieland, René Hägerling, Lakshmi Ratnam, Ege Sackey, Dionysios Grigoriadis, Bernard Ho, Frances Smith, Elisabeth Rauter, Peter Mortimer, Derek Macallan
Journal: J Med Genet (2023)
Keywords: genetics, haemic and lymphatic diseases, immune system diseases, medical
MeSH terms: Immunologic Deficiency Syndromes, Lymphedema / diagnosis, Lymphedema / genetics, Warts / diagnosis, Warts / genetics, Case Reports, Research Support, Non-U.S. Gov't, Humans

Background:
Primary lymphoedema (PL) syndromes are increasingly recognised as presentations of complex genetic disease, with at least 20 identified causative genes. Recognition of clinical patterns is key to diagnosis, research and therapeutics. The defining criteria for one such clinical syndrome, 'WILD syndrome' (Warts, Immunodeficiency, Lymphoedema and anogenital Dysplasia), have previously depended on a single case report.
Methods and results:
We present 21 patients (including the first described case) with similar clinical and immunological phenotypes. All had PL affecting multiple segments, with systemic involvement (intestinal lymphangiectasia/pleural or pericardial effusions) in 70% (n=14/20). Most (n=20, 95%) had a distinctive cutaneous lymphovascular malformation on the upper anterior chest wall. Some (n=10, 48%) also had hyperpigmented lesions resembling epidermal naevi (but probably lymphatic in origin). Warts were common (n=17, 81%) and often refractory. In contrast to the previous case report, anogenital dysplasia was uncommon-only found in two further cases (total n=3, 14%). Low CD4 counts and CD4:CD8 ratios typified the syndrome (17 of 19, 89%), but monocyte counts were universally normal, unlike GATA2 deficiency.
Conclusion:
WILD syndrome is a previously unrecognised, underdiagnosed generalised PL syndrome. Based on this case series, we redefine WILD as 'Warts, Immunodeficiency, andLymphatic Dysplasia' and suggest specific diagnostic criteria. The essential criterion is congenital multisegmental PL in a 'mosaic' distribution. The major diagnostic features are recurrent warts, cutaneous lymphovascular malformations, systemic involvement (lymphatic dysplasia), genital swelling and CD4 lymphopaenia with normal monocyte counts. The absence of family history suggests a sporadic condition, and the random distribution of swelling implicates mosaic postzygotic mutation as the cause.
Case Report: Phenotypic Switch in High-Grade B-Cell Lymphoma With MYC and BCL6 Rearrangements: A Potential Mechanism of Therapeutic Resistance in Lymphoma?
Authors: Hui Liu, Qi Shen, Chung-Che Chang, Shimin Hu
Journal: Front Oncol (2021)
Keywords: bcl2, bcl6, high-grade b-cell lymphoma, myc, lineage switch, plasmablastic lymphoma, plasticity, therapeutic resistance
MeSH terms: Case Reports

Lineage switch between myeloid and lymphoid in acute leukemia is well established as a mechanism for leukemic cells to escape chemotherapy. Cross-lineage transformation is also recognized in some solid tumors on targeted therapy, such as adenocarcinomas of the lung and prostate that transforms to neuroendocrine carcinoma on targeted therapy. Now lineage plasticity is increasingly recognized in mature lymphomas, such as small B-cell lymphomas transforming to histiocytic/dendritic cell sarcoma. However, there is no report of aggressive mature B-cell lymphoma switching from one histologic category to another upon targeted therapy. We report here a case of high-grade B-cell lymphoma with MYC and BCL6 rearrangements relapsing as a high-grade plasmablastic neoplasm with MYC and BCL6 rearrangements after R-CHOP and R-EPOCH therapy. Being aware of this rare scenario will help improve our understanding of the underlying mechanisms of therapeutic resistance and progression of lymphoma.
Mediastinal Epidermoid Cyst in a 5-Year-Old Girl
Authors: Keren A Sloan, Kokila Lakhoo
Journal: European J Pediatr Surg Rep (2018)
Keywords: epidermoid cyst, mediastinum, pediatric
MeSH terms: Case Reports

A 5-year-old girl was referred to our unit with an incidental finding of a lesion on the right hemithorax situated within the right atrial shadow. Computed tomography thorax showed a well-defined soft tissue lesion felt to be consistent with a bronchogenic cyst. The lesion was located in the posterior mediastinum, adherent to the diaphragm and inferior vena cava, but did not extend within the wall of the esophagus. It was entirely excised via video-assisted thoracoscopy converted to open thoracotomy. Histopathology confirmed an encapsulated nodular tissue measuring 2.5 × 2.5 × 2 cm lined by squamous type epithelium. Chronic inflammatory cells and foreign body giant cell reaction were found in the cyst wall. The appearances were that of a benign epidermoid cyst.
Recurrent Nasal-Type Extranodal Natural Killer/T-Cell Lymphoma with Meningeal Involvement
Authors: Sylvester Homsy, Ralph Kamel, Mark Raden, Yevgeniy Skaradinskiy
Journal: Case Rep Hematol (2021)
MeSH terms: Case Reports

Extranodal natural killer/T-cell lymphoma nasal type (NNKTL) is a type of non-Hodgkin's lymphoma that has been associated with Epstein-Barr virus (EBV). It has an aggressive behavior, known for predilection to metastasize to different organs. Central nervous system (CNS) spread from a primary location has been reported. Different modalities of treatment such as chemotherapy and radiation therapy have been employed in the management of this disease. Severe toxicities of currently available treatment have made clinicians seek more targeted therapies using molecular profiling. We present a 44-year-old Hispanic patient who was diagnosed with an early-stage NNKTL and treated with the modified SMILE regimen for 6 cycles. His EBV DNA PCR turned undetectable and remained so throughout the treatment. He sustained complete right vision loss due to right optic nerve invasion by the tumor, leading to prophylactic intravitreal methotrexate to the contralateral eye. The patient achieved good response with minimal residual disease. He was supposed to start radiation as a sequential therapy. However, the acute development of severe headache and confusion lead to a complete workup showing leptomeningeal spread. He eventually succumbed to the disease.
Hydatid cyst of the breast: case report
Authors: Kamal El Moussaoui, Amina Lakhdar, Aziz Baidada, Aicha Kherbach
Journal: Int J Surg Case Rep (2020)
Keywords: breast, breast cyst, hydatid cyst
MeSH terms: Case Reports

Introduction:
The hydatid cyst of the breast is a rare pathology even in countries endemic to tuberculosis, however there remains a differential diagnosis evoked in front of any breast tumor. The clinic, mammography and ultrasound sometimes allow us to suspect the hydatid nature of the lesion. The definitive diagnosis remains histological and the treatment is always surgical. From one case, we recall the important role that cytology can play in preoparatory diagnosis.
Case presentation:
We report an observation of 59-year-old patient who lives in a tuberculosis endemic area of morocoo. the patient presented to our institute with palpable nodule in the right breast associated with pain of long duration. Clinical examination shows 2 masses occuping the entire upper outer quadrant of the right breast. Radiological explorations (mammography + ultrasound) objectified: A voluminous opacity of the QSE of the right breast corresponding on ultrasound to two cystic with anechoic content. the first classified ACR2 BIRADS. the second has ultimately echogenic content with a sloping portion producing the appearance of pseudo vegetation,classified ACR3 BIRADS. A fine needle aspiration of the cyst only showed the presence of altered polynuclear, without evidence of tumor cells. Treatment consisted of surgical excision such as perikystectomy and pathology examination demonstrated breast hydatidosis.postoperative evolution was favourable. Patient was put on medical treatment based on albendazole immediately.The patient was monitored for one year without local or distant recurrences.
Conclusion:
Although hydatid disease of the breast remains a rare localization of tuberculosis disease, it should nevertheless be considered as a differential diagnosis of breast tumors. Ultrasound, cytology and MRI play an important preoperative diagnostic role. Treatment is essentially based on surgical pericystectomy associated with medical treatment based on albendazole.
Clinical Features and Gene Mutation Analysis of Congenital Thrombotic Thrombocytopenic Purpura in Neonates
Authors: Jiali Wang, Li Zhao
Journal: Front Pediatr (2020)
Keywords: adamts 13, congenital disease, congenital thrombotic thrombocytopenic purpura, family history, gene mutation, genetic testing, neonates
MeSH terms: Case Reports

Congenital thrombotic thrombocytopenic purpura (TTP) is a rare hereditary disease with a high mortality rate; however, improved patient survival is possible with prompt diagnosis and treatment. The clinical features and mutation sites of a disintegrin and metalloproteinase with thrombospondin motifs 13 (ADAMTS13) in congenital TTP were analyzed in a neonate with suspected congenital TTP. High-throughput sequencing, polymerase chain reaction, and Sanger sequencing were utilized for screening of genes related to thrombocytopenic diseases and ADAMTS13 gene mutation testing on blood samples from the neonate and the parents. Domestic and foreign literature reporting the clinical features and variants of ADAMTS13 in neonates with congenital TTP were retrieved, compared, and analyzed. The patient in this case was a girl who had been born for 1 h and admitted to the hospital due to "dyspnea for 1 h." Routine blood tests on admission revealed profound thrombocytopenia. She quickly developed symptoms of systemic hemorrhage and eventually died. The neonate had two older sisters who had died of idiopathic thrombocytopenia and hemorrhage within 24 h of birth. Genetic testing showed that the neonate harbored a compound heterozygous mutation in ADAMTS13, c.1187G>A/c.1595G>T, which is a novel variant. Of the 12 cases (1 case in China and 11 cases in other countries) of congenital TTP in neonates that have been reported globally, ADAMTS13 mutation analysis was only performed in eight neonates. Common clinical manifestations included dyspnea of unknown etiology, bruising, jaundice, hemorrhage, and thrombocytopenia. Hence, the current case contributes to our understanding of the clinical manifestations and types of variants in neonates with congenital TTP. Our results demonstrate the efficacy of high-throughput sequencing technology in genetic testing of neonates suspected with congenital TTP and have revealed a novel compound missense mutation in ADAMTS13 that has not been reported in China or elsewhere.