OpenMed/multicare-articles huggingface dataset:
Kikuchi-fujimoto disease: a rare cause of Fever in the returning traveller
Authors: Matthew R Wilson, Gordon Milne, Evangelos Vryonis
Journal: Case Rep Med (2014)

Background. Kikuchi-Fujimoto disease (KFD) is typically a self-limited, benign illness which presents with fever and lymphadenopathy. It is rare in Caucasians, normally occurring in those of Asian descent. The aetiology is poorly understood, but it appears to be an autoimmune disorder with a possible infectious trigger. The clinical features are such that it is often mistaken for infectious diseases or malignancy. Case Report. Here we describe a case of a 36-year-old Asian man who presented following a recent trip to Delhi, India. He described fever, neck swelling, and arthralgia. Given his travel history an infectious cause for his presentation was presumed but multiple investigations were negative. Persistence of his symptoms led to lymph node biopsy to investigate for malignancy; surprisingly this revealed a necrotizing lymphadenitis in keeping with KFD. The patient made a full recovery with supportive treatment only. Conclusion. This case presented an opportunity to reflect on two common presenting complaints-fever in the returning traveller and unexplained lymphadenopathy. Both presentations have a wide range of aetiologies to consider. Although KFD is rare, it is an important diagnosis to make as it can prevent further expensive and invasive investigations, as well as potentially harmful treatments and psychological stress to the patient.
Open Reduction and Internal Fixation of Extraarticular Scapular Neck and Body Fractures With Good Short Term Functional Outcome
Authors: Muhammad Azrin Mohd Asihin, Mohd Yazid Bajuri, Premganesh K Ganaisan, Abdul Rauf Ahmad
Journal: Front Surg (2019)
Keywords: decision making, extraarticular, functional outcome, open reduction, scapula fracture
MeSH terms: Case Reports

Background: The study aims to evaluate the short-term functional outcome of open reduction and internal fixation of extraarticular scapular neck and body fractures treated at our center over a period of 2-year duration at a tertiary referral center. Patients and Methods: Between October 2015 and October 2017, we operated on 20 extraarticular scapular neck and body fracture. Ten were available for a one-off assessment. The mean time to surgery was 10 days (range, 3-19 days) and one-off assessment was done within 6-24 months (mean, 13 months). Indications includes (1) medial/lateral displacement (M/L) ≥ 20 mm, (2) M/L ≥ 15 mm if angular deformity ≥ 30°, (3) Angular deformity ≥ 45°, (4) Double lesion of superior shoulder suspensory complex (SSSC), with displacement ≥10 mm in both lesion, (5) Glenopolar angle (GPA) ≤ 22°, and (6) open scapular fracture. The functional outcome was measured using range motion and strength. Patient-reported outcome was assessed using Disabilities of the Arm, Shoulder and Hand (DASH) questionnaire and Short-Form-36 (SF-36) version 1. Results: All patients achieved radiological union at time of assessment. None of the patients had post-operative complications. The mean DASH score was 19.3 (range, 1.7-39.3). All subcategories of SF-36 questionnaire scores between 70 and 89.6, with exception to REE (role limitations due to emotional problems) and REP (role limitations due to physical health). The average range of motion for the injured shoulders; forward flexion 157°, abduction 114°, and external rotation 42°. The strength of operated and non-operated shoulders, respectively, 6.5 and 8.1 kgF of forward flexion, 5.5 and 7.2 kgF of abduction, and 4.1 and 6.3 kgF of external rotation. Conclusion: Open reduction and internal fixation of surgically indicated scapular neck and body fracture is feasible with predictably good functional outcome. The reduced external rotation ROM and strength may be due to the use of Classic Judet approach, however we do not enough data to support this.
Effectiveness of stellate ganglion block for the treatment of patulous eustachian tube: A case report
Authors: Junko Akiyama, Mina Imai, Keisuke Yamaguchi
Journal: Clin Case Rep (2023)
Keywords: autophony, breathing awareness, patulous eustachian tube, stellate ganglion block
MeSH terms: Case Reports

A 56-year-old woman presented with a 2 months history of patulous eustachian tube. She had sudden weight loss after developing a cold, after which she had been experiencing disabling autophony and a sensation of blockage in the ear. She underwent stellate ganglion block in 8 months; her symptoms resolved subsequently.
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome
Authors: María E Teresa-Rodrigo, Juliane Eckhold, Beatriz Puisac, Jelena Pozojevic, Ilaria Parenti, Carolina Baquero-Montoya, María C Gil-Rodríguez, Diana Braunholz, Andreas Dalski, María Hernández-Marcos, Ariadna Ayerza, María L Bernal, Feliciano J Ramos, Dagmar Wieczorek, Gabriele Gillessen-Kaesbach, Juan Pié, Frank J Kaiser
Journal: Biomed Res Int (2016)
MeSH terms: De Lange Syndrome / genetics, Genetic Heterogeneity, Proteins / genetics, Case Reports, Research Support, Non-U.S. Gov't, Cell Cycle Proteins, Child, De Lange Syndrome / pathology, Exons, Female, Frameshift Mutation / genetics, Hep G2 Cells, Humans, Introns, Male, Pedigree, RNA Splicing / genetics, Cell Cycle Proteins, NIPBL protein, human, Proteins

Cornelia de Lange syndrome (CdLS) is a rare genetically heterogeneous disorder with a high phenotypic variability including mental retardation, developmental delay, and limb malformations. The genetic causes in about 30% of patients with CdLS are still unknown. We report on the functional characterization of two intronic NIPBL mutations in two patients with CdLS that do not affect a conserved splice-donor or acceptor site. Interestingly, mRNA analyses showed aberrantly spliced transcripts missing exon 28 or 37, suggesting the loss of the branch site by the c.5329-15A>G transition and a disruption of the polypyrimidine by the c.6344del(-13)_(-8) deletion. While the loss of exon 28 retains the reading frame of the NIBPL transcript resulting in a shortened protein, the loss of exon 37 shifts the reading frame with the consequence of a premature stop of translation. Subsequent quantitative PCR analysis demonstrated a 30% decrease of the total NIPBL mRNA levels associated with the frameshift transcript. Consistent with our results, this patient shows a more severe phenotype compared to the patient with the aberrant transcript that retains its reading frame. Thus, intronic variants identified by sequencing analysis in CdLS diagnostics should carefully be examined before excluding them as nonrelevant to disease.
Rare Presentation of Moyamoya Disease with Sub acute Presentation in Iran
Authors: Payam Sasannejad, Fateme Rezaei, Reza Bidaki, Ehsan Zarepur
Journal: Iran J Child Neurol (2018)
Keywords: computed tomography angiography, magnetic resonance imaging, moyamoya disease, stroke
MeSH terms: Case Reports

Moyamoya disease is a chronic progressive vascular disease of brain characterized by bilateral stenosis or occlusion of the arteries around the circle of Willis with prominent arterial collateral circulation. We introduce here a patient with Moyamoya who was misdiagnosed. She was a 16-yr-old female from north east of Iran who complained left hemiparesis and was diagnosed Moyamoya disease by brain and cervical CT-Angiography. There was still great difficulty in the diagnosis of diffuse white matter lesions. The CT-Angiography showed bilateral internal carotid stenosis with "puff of smoke" collateralization arising from the circle of Willis, therefore Moyamoya disease was raised. The clinical diagnosis of Moyamoya is challenging and misdiagnosis is probable. Therefore, the physicians should know this disease and think about it in patients with Juvenile stroke. This shows that Moyamoya disease should be considered in differential diagnoses especially among young patients presenting with unexplained cerebrovascular syndromes.
Case Report: High-Level MET Amplification as a Resistance Mechanism of ROS1-Tyrosine Kinase Inhibitors in ROS1-Rearranged Non-Small Cell Lung Cancer
Authors: Jiangping Yang, Ping Zhou, Min Yu, Yan Zhang
Journal: Front Oncol (2021)
Keywords: met amplification, ros1, crizotinib, non-small cell lung cancer, resistance
MeSH terms: Case Reports

Background:
Although C-ros oncogene 1 (ROS1) targeted therapies have demonstrated remarkable efficacy in ROS1-rearranged non-small cell lung cancer (NSCLC), patients inevitably develop resistance to ROS1-tyrosine kinase inhibitors (TKIs). Commonly acquired resistance mechanisms include a second mutation of the ROS1 kinase domain and activation of bypass signaling pathways. However, MMNG HOS Transforming gene (MET) amplification has not been reported as a novel mechanism of ROS1-TKIs resistance.
Case presentation:
We report a case of a 62-year-old man diagnosed with ROS1-rearranged metastatic lung adenocarcinoma, who received first-line treatment with crizotinib for 19 months. During the course of disease, the primary lung tumor was under control while the brain metastasis progressed despite the treatment with lorlatinib. The biopsy and genetic tests of the metastatic brain tumor showed a high level of MET amplification (32 copies). However, fluorescence in situ hybridization of the primary cancer showed no MET amplification, suggesting that MET amplification may be associated with an acquired resistance to ROS1-TKIs.
Summary:
This case suggested that MET amplification could be explored as a potential mechanism for developing ROS1-TKIs resistance. Combination treatment with highly potent and selective MET-TKIs warrants further investigations.
Complete Resection without Any Ostomies by Laparoscopic Extended Surgery for Locally Advanced T4 Sigmoid Colon Cancer Invading the Urinary Bladder and Ureter
Authors: Atsushi Ogura, Tsukasa Aritake, Satoru Kawai, Shigeki Yamamoto, Kenji Takagi, Kiyotaka Kawai, Takashi Maeda, Ryutaro Kobayashi, Natsuki Nagano, Satoaki Kamiya
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

The feasibility and safety of laparoscopic surgery for locally advanced colorectal cancer remain controversial due to the high rate of incomplete resection and conversion to open surgery. Especially for T4 colorectal cancer, laparoscopic techniques are still demanding mainly because of the difficulty in distinguishing between inflammation and tumor involvement, which often lead surgeons to do overtreatment in surgery. We believe laparoscopic magnified and multidirectional approach might be useful for pathologically complete resection and minimizing an unnecessary extended surgery for these cases. A 49-year-old man was diagnosed with locally advanced T4 sigmoid colon cancer invading the urinary bladder and ureter. We performed laparoscopic anterior resection with en bloc resection of the urinary bladder and the left ureter. Total operative time was 462 min, and the estimated blood loss was 50 ml. This patient was discharged on the 28th day after surgery without any ostomies and urinary functional disorders. The magnified view by laparoscopic techniques from multiple directions would enable surgeons to set surgical landmarks for another approach, which is the key for safe and feasible laparoscopic surgery in patients with locally advanced T4 colorectal cancer.
Delayed post-traumatic Tension Hydropneumocephalus; a Case Report of Conservative Treatment
Authors: Talayeh Mirkarimi, Ehsan Modirian, Peyman Namdar, Mohammad Salek
Journal: Arch Acad Emerg Med (2021)
Keywords: case reports, conservative treatment, craniocerebral trauma, pneumocephalus
MeSH terms: Case Reports

Pneumocephalus refers to the presence of air in the cranial cavity. Trauma is the most common cause of acquired pneumocephalus. Tension pneumocephalus occurs when intracranial accumulation of air causes high pressure on the brain as compared to extracranial pressure. Tension pneumocephalus is usually acute, and causes neurological symptoms, and its delayed form rarely occurs. A 12-year-old girl presented with a headache, lethargy, mild fever, and nausea from two days before admission to emergency department of Shahid Rajaei Hospital, Qazvin, Iran. The patient had a history of head trauma in a driving accident six weeks before and had undergone brain computed tomography (CT) scan in another centre, which had revealed no sign of pneumocephalus. The patient had been treated for one week and had been discharged in good general condition. Considering her reduced consciousness, the patient underwent brain CT scan again in our centre. CT scan revealed tension hydropneumocephalus. The patient was transferred to the intensive care unit (ICU) for treatment. Considering the trend of her recovery, the patient was a candidate for conservative non-surgical therapy based on the in-charge neurosurgery specialist's decision. The patient reported no complications during the six-month follow-up. Delayed tension pneumocephalus is among neurosurgery emergencies usually treated with early surgical intervention and dura defect restoration, but this patient received non-surgical treatment without any serious problem during the six-month follow-up.
Sitosterolemia With Atherosclerosis in a Child: A Case Report
Authors: Hongjun Ba, Huimin Peng, Xiufang He, Liangping Cheng, Yuese Lin, Xuandi Li, Huishen Wang, Youzhen Qin
Journal: Front Pediatr (2021)
Keywords: atherosclerosis, genetic, hypercholesterolemia, mutation, sitosterolemia, xanthoma
MeSH terms: Case Reports

Introduction: Sitosterolemia is a rare condition in children and is often misdiagnosed as familial hypercholesterolemia. Serious complications can result if not treated promptly and effectively. When pediatric patients are diagnosed with sitosterolemia, vascular, and cardiac studies are important to evaluate for the presence of atherosclerosis. Few cases of severe atherosclerotic heart disease in children with sitosterolemia have been reported, making this case worthy of presentation. Case Presentation: Here, we report a case of sitosterolemia in an 8-year-old child. The patient presented with severe hypercholesterolemia and xanthoma. He was diagnosed two and a half years prior with familial hypercholesterolemia because his father had elevated cholesterol levels. After conventional treatment, the patient was dissatisfied with lipid level control and visited our hospital for further management. Genetic tests of the patient and parents found mutations in intron 7 (NM 022436.2, c.904+1G>A) and intron 9 (NM 022436.2, C. 1324+1de1G) of ABCG5. The 7 intron mutation was from his mother, and the 9 intron mutation was from his father. The patient was diagnosed with sitosterolemia. Results: The child was treated with ezetimibe, a low plant sterol diet, and clopidogrel anticoagulant therapy. After 3 months of treatment, the blood lipid level was significantly lower. Conclusion: Genetic testing should be completed as soon as possible to avoid misdiagnosis in children with abnormally elevated hypercholesterolemia who have a family history of elevated cholesterol. In addition, clinicians should rule out great arterial lesions and be vigilant in evaluating patients for systemic arterial disease and atherosclerosis.
Synovial Osteochondromatosis at the Carpometacarpal Joint of the Thumb
Authors: Satoru Yonekura, Hiroyoshi Hagiwara, Takahiro Nishimura, Hiroshi Amagai, Mayu Yamamura, Osamu Miyamoto, Sueo Nakama
Journal: Case Rep Orthop (2017)
MeSH terms: Case Reports

Synovial osteochondromatosis (SOC) is a benign tumor characterized by synovial connective tissue metaplasia. SOC commonly affects major joints including the knee followed by the hip, elbow, and wrist. SOC cases in the hand are not reported as often as SOC of major joints. Particularly SOC of the carpometacarpal joint of the thumb is rare. We report on a 57-year-old female with primary SOC of the carpometacarpal joint of her left thumb. Surgical excision was performed and the patient had no symptoms with full range of motion of her left thumb. At 3 years of follow-up, there was no recurrence.
Life-Threatening Laryngeal Edema and Hyponatremia during Hysteroscopy
Authors: Barbara Wegmüller, Kerstin Hug, Charlotte Meier Buenzli, Bernd Yuen, Marco Maggiorini, Alain Rudiger
Journal: Crit Care Res Pract (2011)
MeSH terms: Case Reports

We report on a 43-year-old patient undergoing a hysteroscopic myomectomy. After 80 minutes of operation, the patient developed laryngeal edema, requiring emergency tracheostomy. Hyponatremia (serum sodium 78 mmoL/L) indicated an irrigation fluid absorption. The patient developed shock, acute respiratory distress syndrome, acute renal failure, and diffuse intravascular coagulopathy. Resuscitation including continuous venovenous hemodiafiltration was required. Finally, the patient made a full clinical recovery. Hysteroscopy usually has low risks. However, absorption of the irrigation fluid can result in life-threatening fluid overload and electrolyte disturbances. Accurate fluid balancing and limiting the operation time may prevent these complications.
Proximal Row Carpectomy for Coexisting Kienböck's Disease and Giant Intraosseous Ganglion of the Scaphoid: A Case Report and Review of the Literature
Authors: Miguel Morón, Florian Oellig, Tomás Sánchez
Journal: Case Rep Orthop (2014)

The etiologies of Keinböck's disease and intraosseous ganglion remain unknown. Both entities are rare and the coexistence of these two pathologies in the same patient and hand is even less frequent. We report the case of a 40-year-old man with a longstanding history of martial arts practice (karate) who developed an avascular necrosis of the lunate concomitant with a giant intraosseous ganglion of the scaphoid bone successfully managed by proximal row carpectomy. We review the literature of these two diseases.
Infiltrative cutaneous hemangiolipoma in a goat
Authors: Jessica R Collier, Stacey R Byers, Paula A Schaffer, Deanna R Worley, E J Ehrhart, Colleen G Duncan, Alicia N Grossman, Timothy Holt, Robert J Callan
Journal: Vet Med Int (2013)

An approximately 4-year-old castrated male, Saanen cross goat presented to the Colorado State University Veterinary Teaching Hospital for evaluation and removal of a 22 cm × 22 cm, dark red, thickened, and crusted cutaneous lesion along the left ventrolateral thorax. An initial incisional biopsy performed approximately 8 weeks earlier was suspicious for cutaneous hemangiosarcoma. Surgical excision was deemed to be the most appropriate treatment option for this goat. A complete physical exam, complete blood count, and chemistry profile were performed and results were within normal limits. Thoracic radiographs and abdominal ultrasound were performed to rule out metastatic disease and comorbid conditions; no metastatic lesions or other abnormalities were observed. En bloc surgical excision of the affected skin was performed and the entire tissue was submitted for histopathology. A final diagnosis of cutaneous hemangiolipoma was reached upon extensive sectioning and histologic examination of the larger tissue specimen. The goat recovered well from surgery and has had no further complications up to 9 months postoperatively. To our knowledge, this is the first case report of a hemangiolipoma in a goat and surgical excision for such lesions appears to be a viable treatment method.
Pravastatin-Induced Eczematous Eruption Mimicking Psoriasis
Authors: Michael P Salna, Hannah M Singer, Ali N Dana
Journal: Case Rep Dermatol Med (2017)
MeSH terms: Case Reports

Background:
Statins, an example of the most commonly prescribed medications to the elderly, are not without side effects. Dermatologic events are often overlooked as arising from medications, particularly those which are taken chronically. Moreover, elderly patients are prone to pharmacologic interactions due to multiple medications. In this report, we describe a case of a statin-induced eczematous dermatitis with a psoriasis-like clinical presentation and review the skin manifestations that may arise from statin therapy.
Case presentation:
An 82-year-old man with gout and hypercholesterolemia presented to dermatology clinic with new onset of pruritic, scaly erythematous plaques bilaterally on the extensor surfaces of his arms. He had never had similar lesions before. Despite various topical and systemic treatments over several months, the rash continued to evolve. The patient was then advised to discontinue his long-term statin, which led to gradual resolution of his symptoms. He was subsequently diagnosed with statin-induced eczematous dermatitis.
Conclusions:
This case report describes an adverse cutaneous reaction to statins that is rarely reported in the literature. Medications, including longstanding therapies, should be suspected in cases of refractory dermatologic lesions.
Giant Pheochromocytoma Diagnosis Confounded by Amphetamine Use
Authors: Shreya Amin, Matthew Gilbert, Kaitlyn Barrett
Journal: Case Rep Endocrinol (2023)
MeSH terms: Case Reports

Objective:
Diagnosis of giant pheochromocytoma is difficult; patients often lack the classic triad and presence of gross biochemical positivity. At times, presence of sympathetic stimulant drugs can further complicate the clinical picture. Here, we present a case of giant "functional" pheochromocytoma with a history of amphetamine use. Case Description. 37-year-old female presented with a 1-day history of abdominal pain. CT abdomen identified a 12.5 cm heterogeneously enhancing left adrenal mass. Plasma/urine catecholamine and metanephrine levels were markedly elevated with evidence of elevated serum/urine cortisol. However, the patient's subsequent urine toxicology was found to be positive for amphetamines, which she later admitted to using, 1 week prior to admission. Repeat biochemical workup after 1 week drug washout period showed improvement in both catecholamine and cortisol levels. Given the high degree of suspicion for PCC, an open laparoscopic adrenalectomy was performed with histology confirming SDHB gene mutation positive giant pheochromocytoma. Discussion. Diagnosis of PCC in a patient with a history of amphetamine abuse remains an enigma, to which addition of it being a giant PCC that are rare and typically silent further confounds the clinical picture as seen in this case.
Conclusion:
PCC could be termed a "chameleon" tumor given its varied clinical presentations and lack of standardized biochemical and radiological data (giant, pheochromocytoma, and amphetamine).