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Journal of Medical Case Reports

Omid Daneshjoo, Masoud Garshasbi
BACKGROUND: Wilson disease is an autosomal recessive disorder of copper transport and is characterized by excessive accumulation of cellular copper in the liver and other tissues because of impaired biliary copper excretion and disturbed incorporation of copper into ceruloplasmin. Hepatic failure and neuronal degeneration are the major symptoms of Wilson disease. Mutations in the ATP7B gene are the major cause of Wilson disease. CASE PRESENTATION: In this study we have screened one pedigree with several affected members, including a 24-year-old Iranian woman and a 20-year-old Iranian man, who showed psychiatric and neurological symptoms of varying severity, by amplifying the coding regions including exon-intron boundaries with polymerase chain reaction and sequencing...
March 15, 2018: Journal of Medical Case Reports
Haili Luo, Shaohong Wang, Tongmei Yuan, Jingtao Liu, Ling Yao, Xianguo Pan, Xuemei Long, Juncheng Wu, Feng Shen
BACKGROUND: More and more cases of human infections with avian influenza A H7N9 have been reported since it was first mentioned in 2013 in China, but concurrence of influenza A H7N9 with Mycoplasma pneumoniae, however, has never been described. Here, we reported the case of a woman co-infected by influenza A H7N9 and Mycoplasma pneumoniae, whose treatment process was a little bit longer and a little bit complicated as well. CASE PRESENTATION: Our patient was an 80-year-old Chinese woman who presented with fever, cough, chest tightness, and shortness of breath...
March 15, 2018: Journal of Medical Case Reports
Amal Bennani, Nassira Karich, Imane Kamaoui, Meryem Chraibi, Sanaa Abbaoui
BACKGROUND: Schwannomas are uncommon tumors of the external auditory canal. In the English literature, very few cases of schwannomas originating in the external auditory canal were reported and none of them showed chondroid metaplasia. We report the first case of schwannoma with chondroid metaplasia in this location. CASE PRESENTATION: In this report, we described a 22-year-old white man who presented with an external auditory slow growing mass. A computed tomography scan of the temporal bone demonstrated a well-circumscribed, soft tissue mass narrowing most of the external auditory canal...
March 13, 2018: Journal of Medical Case Reports
Nathan Esplin, Khadija Fergiani, Timothy B Legare, John W Stelzer, Hammad Bhatti, Sayed K Ali
BACKGROUND: Spontaneous regression has been defined as occurring when the malignant tumor mass partially or completely disappears without any treatment or as a result of a therapy considered inadequate to influence systemic neoplastic disease. Recently, studies have implicated immunological responses as likely being involved. We report a case of a patient with squamous cell carcinoma of the lung who experienced spontaneous regression following biopsy without other intervention. CASE PRESENTATION: A 57-year-old white man was referred to our pulmonary clinic after an incidental finding of a nodule in the lower lobe of his left lung...
March 12, 2018: Journal of Medical Case Reports
Khadega A Abuelgasim, Hinna Rehan, Maha Alsubaie, Nasser Al Atwi, Mohammed Al Balwi, Saeed Alshieban, Areej Almughairi
BACKGROUND: Chronic lymphocytic leukemia and chronic myeloid leukemia are the most common types of adult leukemia. However, it is rare for the same patient to suffer from both. Richter's transformation to diffuse large B-cell lymphoma is frequently observed in chronic lymphocytic leukemia. Purine analog therapy and the presence of trisomy 12, and CCND1 gene rearrangement have been linked to increased risk of Richter's transformation. The coexistence of chronic myeloid leukemia and diffuse large B-cell lymphoma in the same patient is extremely rare, with only nine reported cases...
March 11, 2018: Journal of Medical Case Reports
Lucas Souto Nacif, Daniel R Waisberg, Rafael Soares Pinheiro, Fabiana Roberto Lima, Vinicius Rocha-Santos, Wellington Andraus, Luiz Carneiro D'Albuquerque
BACKGROUND: There is a worldwide problem of acute liver failure and mortality associated with remaining on the waiting for a liver transplant. In this study, we highlight results published in recent years by leading transplant centers in evaluating imatinib-induced acute liver failure in chronic myeloid leukemia and follow-up in liver transplantation. CASE PRESENTATION: A 36-year-old brown-skinned woman (mixed Brazilian race) diagnosed 1 year earlier with chronic myeloid leukemia was started after delivery of a baby and continued for 6 months with imatinib mesylate (selective inhibitor of Bcr-Abl tyrosine kinase), which induced liver failure...
March 10, 2018: Journal of Medical Case Reports
Qingqiang Gao, Jianhuai Chen, Yutian Dai
BACKGROUND: In the past 20 years, the incidence of prostate cancer has risen rapidly. It has been ranked as the third most common malignant tumor of the male genitourinary system. Testicular metastasis is uncommon in prostate cancer. Most cases are incidentally found in the treatment of prostate cancer with orchiectomy. Therefore, we believed it was necessary to report the case of our patient with this disease. CASE PRESENTATION: We present a case of a 69-year-old Han Chinese man with a high total prostate-specific antigen level...
March 9, 2018: Journal of Medical Case Reports
Julio César García Casallas, Walter Villalobos Monsalve, Sara Consuelo Arias Villate, Ingrid Marisol Fino Solano
BACKGROUND: Brucellosis is one of the most widespread zoonoses worldwide. It can affect any organ system, particularly the gastrointestinal system, but there is no report of acute liver failure as a brucellosis complication. CASE PRESENTATION: We present a case of acute liver failure secondary to brucellosis infection. A 75-year-old Hispanic man presented to a University Hospital in Chía, Colombia, with a complaint of 15 days of fatigue, weakness, decreased appetite, epigastric abdominal pain, jaundice, and 10 kg weight loss...
March 9, 2018: Journal of Medical Case Reports
Yacoba Atiase, Ernest Yorke, Josephine Akpalu, Bismark Opoku-Asare, Patrick Adjei, Maame Boatemma Amissah-Arthur, Albert Akpalu
BACKGROUND: Primary hypertrophic osteoarthropathy also known as pachydermoperiostosis is a rare genetic disorder that has often been confused with acromegaly because of similar clinical features. Vascular endothelial growth factors which have been implicated in the clinical features of pachydermoperiostosis, have also been shown to be present in chronic hepatitis and implicated in the malignant transformation of hepatitis B infection to hepatocellular carcinoma. To the best of our knowledge there is one reported case of pachydermoperiostosis with chronic hepatitis B infection...
March 8, 2018: Journal of Medical Case Reports
Yuki Yoshioka, Kazuo Yoshioka, Shizuo Ikeyama
BACKGROUND: Gastric hematoma is a rare disorder. Here we report a case of a large gastric intramural hematoma mimicking an impending rupture of a visceral artery aneurysm. CASE PRESENTATION: A 60-year-old Japanese woman complained of left flank pain. Computed tomography with intravenously administered contrast agent showed a solid mass of 5 × 5 × 8 centimeter in the left middle abdominal quadrant. On completion of computed tomography, the working diagnosis was an impending rupture of an aneurysm located in a branch of the superior mesenteric artery...
March 7, 2018: Journal of Medical Case Reports
Chamara Dalugama, Indika Bandara Gawarammana
BACKGROUND: Tuberculosis is a major health problem in the developing world. Diagnosis of extrapulmonary tuberculosis is delayed because the presentation is nonspecific. Extrapulmonary tuberculosis can present with various hematological manifestations, including pancytopenia. Pancytopenia could be due to hypersplenism, maturation arrest, hemophagocytic lymphohistiocytosis, or infiltration of the bone marrow by caseating or noncaseating granulomas causing reversible or irreversible fibrosis...
March 6, 2018: Journal of Medical Case Reports
Abdelfettah Zidane, Adil Arsalane, Mohammed Lahkim, Issam Lalya, Abderrahim Ktaibi, Ismail Essadi
BACKGROUND: Radiotherapy associated with chemotherapy is a well-established treatment modality for locally advanced non-small cell lung cancers. Radiation-induced second malignancies, particularly radiation-induced sarcomas, are rare. Some authors reported a recent increase in the incidence of this rare complication, especially because of the improved prognosis and survival of patients after radiotherapy. Pathogenic mechanisms of radiation-induced sarcomas are poorly understood. However, diagnosis criteria are well established...
March 5, 2018: Journal of Medical Case Reports
Danielle P Thurtle, Michael B Huck, Kristen A Zeller, Tamison Jewett
BACKGROUND: Trisomy 13 is one of the most common autosomal trisomies, and although increasing in number, patients surviving past the neonatal period remain rare. The natural history and expected complications in these patients as they age remains unknown. Despite the rarity of this condition, unusual malignancies have been reported in the medical literature for decades. It is clear that providers should suspect unusual malignancies in these patients, particularly as they age. CASE PRESENTATION: We report a 20-year-old Caucasian woman with Trisomy 13 who presented with colonic volvulus, found to have colonic polyposis and adenocarcinoma of the colon...
March 4, 2018: Journal of Medical Case Reports
Vincenzo Pota, Maria Beatrice Passavanti, Pasquale Sansone, Maria Caterina Pace, Filomena Peluso, Alfonso Fiorelli, Caterina Aurilio
BACKGROUND: Descending necrotizing mediastinitis is a common and progressive polymicrobial infection involving the neck and chest with a high death rate (10 to 40%). From a microbiological point of view, descending necrotizing mediastinitis is sustained by Gram-positive bacteria (43-62%), anaerobes (46-78%), and, rarely, Gram-negative bacteria. Data collected during the Antibiotic Resistance-Istituto Superiore di Sanità project confirmed that Italy is positioned among the countries with the highest levels of resistance in most pathogenic species under surveillance...
March 3, 2018: Journal of Medical Case Reports
Shuichi Chida, Hitoshi Suzuki, Moto Kobayashi, Tsutomu Sakuraba, Hideji Kura, Naohisa Miyakoshi, Yoichi Shimada
BACKGROUND: We reconstructed a chronically ruptured Achilles tendon and the associated scar tissue using braided polyblend polyethylene sutures (FiberWire; Arthrex Inc.; Naples, FL, USA) and anchors. CASE PRESENTATION: A 68-year-old Japanese man, who was being treated for right Achilles tendinosis, felt pain in his Achilles tendon when walking and started to find plantar flexion of his ankle joint difficult. As his symptoms persisted, he visited us after 4 weeks...
March 2, 2018: Journal of Medical Case Reports
Maria Zerkaoui, Fatima Zahra Laarabi, Yousra Ajhoun, Bouchra Chkirate, Abdelaziz Sefiani
BACKGROUND: Familial Mediterranean fever is an autoinflammatory disease of unknown etiology, characterized clinically by recurrent attacks of sudden-onset fever with arthralgia and/or thoracoabdominal pain and pathogenetically by autosomal recessive inheritance due to a mutation in the MEFV gene. Behçet's disease is an inflammatory disease characterized by recurrent oral and genital aphthous ulcerations, uveitis, and skin lesions. Preliminarily, our literature review suggested that patients with familial Mediterranean fever who also have Behçet's disease have only a single mutated familial Mediterranean fever gene...
March 1, 2018: Journal of Medical Case Reports
Chau-Ting Yeh, Christopher Sung-Huan Yeh, Yu-De Chu, Yang-Jen Chiang
BACKGROUND: Hepatitis E virus infection usually causes an acute and self-resolving hepatitis. In areas where chronic hepatitis B virus infection is prevalent, acute hepatitis E virus superinfection on chronic hepatitis B virus infection occurs sporadically. In recent years, however, chronic hepatitis E virus infection has been recognized in patients under immunosuppressant therapy. To the best of our knowledge, cases involving patients with chronic hepatitis E virus and hepatitis B virus dual infection have never been reported...
February 28, 2018: Journal of Medical Case Reports
Abdullah Al-Hargan, Yasser A Ghobara, Ahmad Al-Issa
BACKGROUND: Laser hair removal is an effective and safe method for the permanent reduction of unwanted hair. Common side effects include temporary pain, transient erythema, and perifollicular edema. Purpuric eruption is a rare adverse event. CASE PRESENTATION: To the best of our knowledge, this is the second case report of purpura induced by laser hair removal. Our patient is a 50-year-old woman of Arab origin. Her positive reaction to a laser hair removal provocation test helped in the diagnosis; her condition was managed with an orally administered corticosteroid, leading to complete resolution within 5 days...
February 27, 2018: Journal of Medical Case Reports
Jun Takeshita, Kei Nishiyama, Atsushi Fukumoto, Suguru Ohira, Satoru Beppu, Nozomu Sasahashi, Nobuaki Shime
BACKGROUND: Although median sternotomy is standard during cardiac surgery, the procedure is associated with a risk of injury to mediastinal organs. Here, we discuss two cases of tracheal injury following median sternotomy during cardiac surgery. CASE PRESENTATION: Ventilation failure occurred in a 78-year-old Japanese man and a 71-year-old Japanese man after median sternotomy, and tracheal injury was identified. The sites of injury were directly repaired and covered with mediastinal fat tissue, following which ventilation was successful...
February 27, 2018: Journal of Medical Case Reports
Linh Ngo, Eric Miller, Peter Valen, Elie Gertner
BACKGROUND: Novel immune checkpoint inhibitors have been often utilized for different types of malignancies as salvage therapy with varying success. One obstacle to immune checkpoint inhibitor use is the higher incidence of immune-mediated side effects that can prompt discontinuation of therapy. Remitting seronegative symmetrical synovitis with pitting edema has been described with immune checkpoint inhibitors only once previously. We report a case of a patient who developed remitting seronegative symmetrical synovitis with pitting edema related to immune checkpoint inhibitor therapy and stress that these symptoms can be managed without cessation of immune checkpoint inhibitor therapy...
February 26, 2018: Journal of Medical Case Reports
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