OpenMed/multicare-articles huggingface dataset:
GH-Producing Pituitary Adenoma and Concomitant Rathke's Cleft Cyst: A Case Report and Short Review
Authors: Ryota Tamura, Satoshi Takahashi, Katsura Emoto, Hideaki Nagashima, Masahiro Toda, Kazunari Yoshida
Journal: Case Rep Neurol Med (2015)

Concomitant pituitary adenoma (PA) and Rathke's cleft cyst (RCC) are rare. In some cases, such PA is known to produce pituitary hormones. A 53-year-old man was admitted to our hospital with a diagnosis of lacunar infarction in the left basal ganglia. Magnetic resonance imaging (MRI) incidentally showed a suprasellar mass with radiographic features of RCC. When he consulted with a neurosurgical outpatient clinic, acromegaly was suspected based on his appearance. A diagnosis of growth hormone- (GH-) producing PA was confirmed from hormonal examinations and additional MRI. Retrospectively, initial MR images also showed intrasellar mass that is compatible with the diagnosis of PA other than suprasellar RCC. The patient underwent endonasal-endoscopic removal of the PA. Since we judged that the RCC of the patient was asymptomatic, only the PA was completely removed. The postoperative course of the patient was uneventful and GH levels gradually normalized. Only 40 cases of PA with concomitant RCC have been reported to date, including 13 cases of GH-producing PA. In those 13 cases, RCC tended to be located in the sella turcica, and suprasellar RCC like this case appears rare. In a few cases, concomitant RCCs were fenestrated, but GH levels normalized postoperatively as in the cases without RCC fenestration. If radiographic imaging shows typical RCC, and PA is not obvious at first glance, the possibility of concomitant PA still needs to be considered. In terms of treatment, removal of the RCC is not needed to achieve hormone normalization.
Deterioration in Clinical Status Is Not Enough to Suspend Eculizumab: A Genetic Complement-Mediated Atypical Hemolytic Uremic Syndrome Case Report
Authors: Luca Calvaruso, Alessandro Naticchia, Pietro Manuel Ferraro, Gisella Vischini, Stefano Costanzi
Journal: Case Rep Nephrol (2019)
MeSH terms: Case Reports

Background:
Atypical hemolytic uremic syndrome (aHUS) is characterized by microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. Mutations in CFI gene coding for complement regulation factors and in THBD gene coding for endothelial cell receptor thrombomodulin could predispose to the disease and hypertension can trigger the onset.
Case presentation:
A 51-year-old female patient who had received kidney transplant eighteen years ago presented with hypertensive peak and hemolysis pattern. Normal ADAMTS13 levels as well as negative culture and serology for Shiga-toxin excluded, respectively, thrombotic thrombocytopenic purpura (TTP) and typical HUS caused by Shiga toxin-producing Escherichia coli (STEC-HUS). In suspicion of aHUS, we administered eculizumab and hemodialysis sessions were started as the patient showed severe renal failure. After an initial response, the patient developed cerebral hemorrhage. After last eculizumab administration, according to hematological parameters, an unsatisfactory response was observed: given the worsening clinical scenario, we withdrew eculizumab. Pathogenic mutations in CFI and THBD genes were found. After eculizumab reinitiation, looking at hemolysis indexes, we observed a suboptimal response as well as an otherwise adequate renal one: renal graft function was recovered despite persistence of hemolysis signs, after 6 months on regular dialysis.
Conclusion:
For the first time, we report an aHUS case in which a peculiar combination of mutations in CFI and THBD is found. We describe the importance of continuing eculizumab despite deterioration of patient's clinical conditions.
The Massive Bleeding after the Operation of Hip Joint Surgery with the Acquired Haemorrhagic Coagulation Factor XIII(13) Deficiency: Two Case Reports
Authors: Akio Kanda, Kazuo Kaneko, Osamu Obayashi, Atsuhiko Mogami
Journal: Case Rep Orthop (2013)

Two women, aged 81 and 61, became haemorrhagic after surgery. Their previous surgeries were uneventful with no unexpected bleeding observed. Blood tests prior to the current surgeries indicated normal values including those related to coagulation. There were no problems with the current surgeries prior to leaving the operating room. At 3 hours after the surgery, the 81-year-old patient had an outflow of the drain at 1290 grams and her blood pressure decreased. She had disseminated intravascular coagulation (DIC). The 61-year-old woman had repeated haemorrhages after her current surgery for a long time. Their abnormal haemorrhages were caused by a deficiency of coagulation factor XIII(13). The mechanism of haemorrhagic coagulation factor XIII(13) deficiency is not understood, and it is a rare disorder. The only diagnostic method to detect this disorder is to measure factor XIII(13) activity in the blood. In this paper, we used Arabic and Roman numerals at the same time to avoid confusion of coagulation factor XIII(13) with coagulation factor VIII(8) that causes hemophilia A.
Diffuse-Type Tenosynovial Giant Cell Tumour Involving Bone Masquerading as Langerhans Cell Histiocytosis
Authors: Florence M F Cheung, Timothy Y C So, Tony H T Sung, Ying-Lee Lam
Journal: Case Rep Med (2022)
MeSH terms: Case Reports

We presented a case of diffuse-type tenosynovial giant cell tumour (DTSGCT) of foot masquerading as Langerhans cell histiocytosis. Preliminary diagnosis by needle biopsy was difficult due to the major involvement of bones and the overshadowing effect of the accompanying Langerhans cells. The complete curettage specimen with relevant immunohistochemistry and molecular tests made the final diagnosis of DTSGCT possible. The biomolecular mechanism for the masquerading phenomenon was explained by CSF1 overexpression in the neoplastic cells attracting migration and proliferation of CSF1R-positive Langerhans cells.
Case Report: Baricitinib as an Alternative in the Maintenance Therapy for Macrophage Activation Syndrome Secondary to Nodular Panniculitis
Authors: Guanqun Yi, Zhengping Huang, Zhixiang Huang, Yunqing Wang, Weiming Deng, Shaoling Zheng, Tianwang Li
Journal: Front Immunol (2022)
Keywords: baricitinib, case report, macrophage activation syndrome, maintenance therapy, nodular panniculitis
MeSH terms: Azetidines / therapeutic use, Macrophage Activation Syndrome / diagnosis, Macrophage Activation Syndrome / drug therapy, Macrophage Activation Syndrome / etiology, Panniculitis, Skin Neoplasms / complications, Case Reports, Research Support, Non-U.S. Gov't, Adult, Female, Humans, Methylprednisolone / therapeutic use, Purines / therapeutic use, Pyrazoles, Sulfonamides, Young Adult, Azetidines, Purines, Pyrazoles, Sulfonamides, baricitinib, Methylprednisolone

Background:
Macrophage activation syndrome (MAS) is a severe complication of autoimmune diseases with high mortality. We report the effectiveness of baricitinib as an option for the maintenance therapy in MAS secondary to nodular panniculitis.
Case summary:
A 24-year-old female came to our hospital with repeated fever and a skin nodule on right tibial tuberosity. Results were notable for raised serum ferritin (SF), triglycerides (TG), elevated liver function enzymes, interleukin-6 (IL-6), interferon-γ (IFN-γ), soluble interleukin-2 receptor (sIL-2R) and decreased activity of NK cells. The pathological biopsy of the subcutaneous nodules indicated nodular panniculitis. Hemophagocytic cells were found in bone marrow aspiration. She was diagnosed as MAS secondary to nodular panniculitis. With the treatment of methylprednisolone (MP) and immunoglobulin, her symptoms and laboratory data gradually improved. Nevertheless, her disease relapsed when the MP dose was tapered. Regarding the usage of JAK inhibitors in MAS, we used baricitinib (JAK1/2 inhibitor) to treat MAS and her symptom and abnormal laboratory findings returned to normal. During follow-up, though the MP dose was tapered, she was stable without a MAS recurrence.
Conclusion:
The case report suggested baricitinib is an option for MAS in the maintenance therapy phase and is potentially beneficial to prevent recurrence.
Diagnostic challenges in primary hepatocellular carcinoma: case reports and review of the literature
Authors: Monika Pazgan-Simon, Sylwia Serafinska, Justyna Janocha-Litwin, Krzysztof Simon, Jolanta Zuwala-Jagiello
Journal: Case Rep Oncol Med (2015)

Hepatocellular carcinoma is the fifth most common malignancy and the third leading mortality cause worldwide. It typically develops secondarily to liver cirrhosis, due to hepatitis B or C infection, alcohol abuse, metabolic disease, and so forth. According to the American Association for the Study of Liver Diseases (AASLD) guidelines, which constitute diagnostic standards, the diagnosis of primary hepatocellular carcinoma (HCC) should be based on contrast-enhanced imaging. Lesion hyperenhancement should be observed throughout the arterial phase, followed by the washout during the venous phase. The diagnosis can also be based on the histopathological evaluation of liver biopsy specimen. Although the standards are clear, we often see patients with advanced HCC in clinical practice, who cannot be offered any effective treatment. Patients with chronic liver disease, presenting with inconclusive and changeable test results, constitute a separate problem. In such cases the diagnostic process is typically long-term and delayed. In this paper we present three case reports where the diagnosis could not be made promptly and the patients died as a result of a delayed diagnostic process.
Umbilical artery thrombosis and maternal positive autoimmune antibodies: two case reports and a literature review
Authors: Xin Li, Wei Chen, Tianjiao Liu, Jian Cai, Sumei Wei, Yuhua Du, Chunyan Liu, Zhaolin Gong, Linbo Cheng, Xiaoling Zhou, Min Xiong, Tao Wang, Yalan Li, Xiao Yang, Fan Lai
Journal: Front Med (Lausanne) (2023)
Keywords: autoantibody, autoimmune antibodies, fetal thrombotic vasculopathy, pregnant women, umbilical artery thrombosis
MeSH terms: Case Reports

Background:
Previous studies have shown that abnormal increases in autoimmune antibodies in pregnant women may increase the risk of maternal thrombosis. However, at our hospital, two pregnant women presented with umbilical artery thrombosis and positive maternal autoantibodies were detected in both, which led us to consider whether maternal autoantibodies also played a role in umbilical artery thrombosis.
Case presentation:
Case 1: Fetal ultrasound of a 34-year-old pregnant woman at 30+4 weeks gestation showed two umbilical arteries, with an inner diameter of approximately 0.15 cm for the smaller was artery. However, only a single umbilical artery blood flow signal was detected. Due to fetal distress, which was noted on abnormal cardiotocography and Doppler ultrasound, an emergency cesarean section was performed at 31+1 weeks gestation. The Apgar score of the newborn was 3-8-8. Umbilical cord examination detected thrombosis in the two umbilical arteries. Moreover, blood test results during pregnancy showed nRNP/Sm antibody (+) and SS antibody (+++). Case 2: The first systematic ultrasound of a 33-year-old twin pregnancy at 24+3 weeks gestation was normal, but routine fetal ultrasound at 27+1 weeks gestation showed only one umbilical artery between fetus A and the placenta. Blood test results showed that the patient was anti-nRNP/Sm antibody (+) in the rheumatoid immune activity test at 27+3 weeks gestation. An emergency cesarean section was performed at 34+6 weeks gestation because of the single umbilical artery and abnormal maternal coagulation. Both umbilical cords of fetus A and B blood test results showed anti-nRNP/Sm antibody (++). The pathological examination of the umbilical cord and placenta showed the presence of old thrombosis in one of the umbilical arteries of fetus A.
Conclusions:
Abnormal maternal autoantibodies may be a risk factor for umbilical artery thrombosis. For these pregnant women, conducting more detailed ultrasound monitoring might get early detection of UAT formation and avoid the occurrence of adverse pregnancy outcomes.
A Rare Case of the Digenic Inheritance of Long QT Syndrome Type 2 and Type 6
Authors: Annejet Heida, Lisette J M E van der Does, Ahmed A Y Ragab, Natasja M S de Groot
Journal: Case Rep Med (2019)
MeSH terms: Case Reports

We report a 37-year-old woman with an out-of-hospital cardiac arrest caused by ventricular fibrillation due to digenic inheritance of long QT syndrome type 2 (KCNH2 gene) and type 6 (KCNE2 gene). During hospitalization, prolonged QTc intervals and frequent episodes of ventricular tachyarrhythmias manifested. Genetic testing identified a mutation of the KCNH2 gene and an unclassified variant, most likely pathogenic, of the KCNE2 gene. This digenic inheritance is extremely rare.
Insights into the Mechanism of Severe Mitral Regurgitation: RT-3D TEE Guided Management with Pathological Correlation
Authors: Senthil Anand, Naktal Hamoud, Jess Thompson, Rajesh Janardhanan
Journal: Case Rep Cardiol (2015)

Mitral valve perforation is an uncommon but important complication of infective endocarditis. We report a case of a 65-year-old man who was diagnosed to have infective endocarditis of his mitral valve. Through the course of his admission he had a rapid development of hemodynamic instability and pulmonary edema secondary to acutely worsening mitral regurgitation. While the TEE demonstrated an increase in the size of his bacterial vegetation, Real Time 3D TEE was ultimately the imaging modality through which the valve perforation was identified. Through this case report we discuss the advantages that RT-3D TEE has over traditional 2D TEE in the management of valve perforation.
Case report:Multiple abscesses caused by Porphyromonas gingivalis diagnosed by metagenomic next-generation sequencing
Authors: Yichen Zhang, Youfeng Zhu, Huijuan Wan
Journal: Front Med (Lausanne) (2023)
Keywords: porphyromonas gingivalis, metronidazole, multiple abscesses, next generation sequencing (ngs), percutaneous catheter drainage
MeSH terms: Case Reports

Background:
Extraoral infection by Porphyromonas gingivalis (P. gingivalis) is extremely rare and challenging to diagnose because the fastidious pathogen is difficult to culture by traditional methods. We report the first case of a patient with multiple abscesses in muscles and the brain with dura empyema due to P. gingivalis, which was diagnosed by metagenomic next-generation sequencing (mNGS).
Case presentation:
A 65-year-old male patient was admitted to our hospital for multiple lumps in his body. Brain magnetic resonance imaging (MRI) and lower-limb computed tomography (CT) revealed multiple abscesses in the brain and muscles. A diagnosis of P. gingivalis infection was made based on mNGS tests of blood, cerebrospinal fluid (CSF), and pus samples, as the traditional bacterial culture of these samples showed negative results. Target antibiotic therapy with meropenem and metronidazole was administered, and CT-guided percutaneous catheter drainage of abscesses in both thighs was performed. The size of muscle abscesses reduced significantly and neurological function improved. The patient was followed up for 4 months. No abscesses re-appeared, and the remaining abscesses in his backside and both legs were completely absorbed. He can speak fluently and walk around freely without any neurological deficits.
Conclusion:
Metagenomic next-generation sequencing is helpful for early diagnosis and subsequent treatment of P. gingivalis-associated multiple abscesses.
A Rare CD4-CD8+ Adult T-Cell Leukemia/Lymphoma with Unique Molecular Mutations: A Case Report with Literature Review
Authors: Jui Choudhuri, Leah Geiser Roberts, Yan Zhang, Yanhua Wang, Yanan Fang
Journal: Case Rep Hematol (2020)
MeSH terms: Case Reports

Adult T-cell leukemia/lymphoma (ATLL) is a mature T-cell neoplasm caused by infection of the human T-cell lymphotropic virus type 1 (HTLV-1). Most ATLL cases are CD4-positive and CD8-negative. Though rare, there are a few dual negative (CD4-CD8-), dual positive (CD4+CD8+), and CD4-CD8+ cases reported in literature. ATLL is associated with HTLV-1 infection, but HTLV-1 alone cannot cause the malignant transformation of infected T cells. Additional genetic and/or epigenetic events are required for the development of the disease. Here, we report an unusual CD4-CD8+ATLL in a 76-year-old male with a unique molecular genetic profile. Molecular studies revealed alterations in 10 genes. Three of them are predicted to be pathogenic by the computational models, including the frameshift change in ZFHX4 and missense mutations in RHOA and POT1. The specific mutations of POT1 (c.281A > G; p.Q94R), RHOA (c.47G > A; p.C16Y), and ZFHX4 (c.2871delC; p.F958Sfs ∗ 31) have never been previously reported in ATLL to the best of our knowledge. The clinical significance of other genetic alterations is unknown. Further research is warranted to correlate this patient's molecular findings with other ATLL cases. Correlation specifically with other cases of CD8+ ATLL could prove to be useful in understanding the pathogenesis of this rare variant of an already rare form of leukemia/lymphoma.
Osmotic Demyelination Syndrome due to Rhabdomyolysis and Hyperosmolar Hyperglycemic Syndrome following Cardiogenic Shock
Authors: Kosuke Katano, Nozomi Fuse, Yoshitaka Asano, Kimihiro Osada, Akira Miyabe, Ryuma Ishihara, Atsushi Tosaka, Yuriko Satoh, Masako Maeda, Taisuke Mizumura, Akio Oshima, Toshitake Tamamura, Yoichi Sugimura
Journal: Case Rep Crit Care (2021)
MeSH terms: Case Reports

Osmotic demyelination syndrome (ODS) is a relatively rare disease that causes rapid demyelination, resulting in pontine and central nervous system damage with various symptoms, including impaired consciousness. It often occurs when hyponatremia is rapidly corrected. However, it can also occur when a normonatremic patient suddenly develops hypernatremia. A 51-year-old man developed cardiogenic shock with impaired consciousness, hyperCKemia, hypernatremia, and hyperglycemia. Osmotic demyelination syndrome secondary to rhabdomyolysis and hyperosmolar hyperglycemic syndrome was suspected. The patient's fluid volume decreased because of osmotic diuresis caused by hyperglycemia, and the blood sodium level increased rapidly. The latter resulted in ODS, which in turn resulted in a prolonged disturbance of consciousness, from which he has not yet recovered. ODS has been reported as a serious complication of rapid correction of hyponatremia, although it also occurs when normonatremia leads to hypernatremia. This disease is difficult to diagnose, as magnetic resonance imaging (MRI) of the brain is often unremarkable several weeks after its onset. This case of ODS occurred when normonatremia led to hypernatremia, as a result of rhabdomyolysis and hyperosmolar hyperglycemic syndrome. Diagnosis was made based on the MRI brain findings.
Capnocytophaga canimorsus tricuspid valve endocarditis
Authors: Sienna Lindén, Patrik Gilje, Johan Tham, Sandra Lindstedt, Magnus Rasmussen
Journal: IDCases (2021)
Keywords: capnocytophaga canimorsus, infective endocarditis, tricuspid valve
MeSH terms: Case Reports

Capnocytophaga canimorsus is an uncommon cause of infective endocarditis (IE) and mainly affects persons with compromised immune-systems who have been in contact with dogs. We describe a case of C. canimorsus tricuspid valve IE in a 70 year-old dog-owner where diagnosis and treatment were delayed. The reason for the delayed diagnosis in this case was likely due to that initial blood cultures were negative due to preceding antibiotic treatment, discrepancies between echocardiographic investigations, and a thymoma and colonic polyps which were thought to explain the symptoms. A multi-diciplinary approach in cases with suspected IE might help to avoid diagnostic delays.
lnvasive cystic hypersecretory carcinoma of the breast associated with papillary pattern: a rare and poorly recognised variant of ductal carcinoma of the breast
Authors: Parul Gupta, Sonal Dhingra, Osman Musa, An Srivastava
Journal: Ecancermedicalscience (2014)
Keywords: breast, carcinoma, mastectomy
MeSH terms: Case Reports

Cystic hypersecretory pattern is a rare and poorly recognised variant of invasive ductal carcinoma of the breast. Cystic hypersecretory lesions of the breast have a spectrum of morphological features ranging from clearly benign cystic hypersecretory hyperplasia (CHH), CHH with atypia, cystic hypersecretory carcinoma (CHC) to invasive CHC. Until now, no case of invasive CHC has been reported in India, to the best of our knowledge. We report a case of a 57-year-old female with a history of a lump in the inferomedial quadrant of the right breast for three years, gradually increasing in size. A mammography showed a well-defined, lobulated radio-opacity. A modified radical mastectomy was done. Gross examination showed multiple cystic spaces filled with thick gelatinous material and solid areas. On histopathology, cystic hypersecretory variant of invasive ductal breast carcinoma with focal papillary pattern was diagnosed. Cystic hypersecretory ductal carcinoma behaves in a low-grade fashion for many years but has a potential for invasiveness and metastasis, so regular follow-up of such cases is crucial.
Secondary thoracolumbar deformity and sagittal imbalance due to osteoporosis in a young man with Cushing's disease: A case report
Authors: José Ramírez-Villaescusa, David Ruiz-Picazo, Cristina Lamas Oliveira, Carlos Morillas-Ariño
Journal: Int J Surg Case Rep (2020)
Keywords: cushing’s disease, multiple vertebral fractures, sagittal imbalance, surgical treatment
MeSH terms: Case Reports

Introduction:
To describe an unusual case of Cushing's disease with spontaneous axial pain due to multiple consecutive vertebral fractures which led to secondary deformity that required surgical treatment.
Presentation of case:
A 43-year-old man was referred to our service with back pain without previous trauma. He was diagnosed of refractory arterial hypertension and we observed centripetal obesity during exploration. With clinical findings and laboratory studies, ACTH-dependent Cushing's syndrome due to a pituitary microadenoma was diagnosed and the patient underwent an endoscopic-assisted endonasal transsphenoidal resection. Dual energy X-ray absorptiometry (DXA) revealed spine and hip osteoporosis. Moreover, X-ray, MR and CT showed multiple vertebral osteoporotic compression fractures in thoracic and thoracolumbar area. Secondary kyphosis thoracolumbar deformity and sagittal imbalance was treated by two-level Smith-Petersen osteotomies (SPO) and instrumented posterolateral arthrodesis T10-L3 using fenestrated pedicles screws with polymethyl methacrylate (PMMA). At six years of follow-up dual energy X-ray absorptiometry (DXA) recovered normal values (T-score lumbar spine L2-L4 1.4 and T-score hip -1.9) and X-ray study showed an adequate sagittal vertebral axis.
Discussion:
Osteoporosis is a common feature of CD and fractures occur in 30-50% of cases. Treating the underlying cause reduces the risk of new fractures. Medical therapy is usually enough but consecutive multiple vertebral fractures related to glucocorticoid excess may lead to secondary painful deformity.
Conclusion:
Vertebral compression fractures result from secondary corticoid-induced osteoporosis in Cushing's disease. Early detection and treatment of primary disease decreases the risk of new fractures. However, unusual secondary spinal deformity or disability may require surgery.