OpenMed/multicare-articles huggingface dataset:
Renal Epithelioid Angiomyolipoma in Children
Authors: Dhruv Mahajan, Vishesh Jain, Sandeep Agarwala, Manisha Jana, Prashant P Ramteke
Journal: J Kidney Cancer VHL (2021)
Keywords: angiomyolipoma, kidney tumor, pediatric cancer, renal epithelioid angiomyolipoma, tuberous sclerosis
MeSH terms: Case Reports

Renal angiomyolipoma is a rare cause of renal tumor in children. Most are associated with tuberous sclerosis, and the classic type is observed more commonly. Epithelioid angiomyolipoma is even rarer with only limited case reports and series published in literature, most of which are of adult patients. We describe a 12-year-old boy, a diagnosed patient of tuberous sclerosis, who presented with pain in the left flank. On evaluation, it was found to have a left renal mass with the clinical picture suggestive of renal cell carcinoma. Partial nephrectomy was performed and histopathology revealed epithelioid angiomyolipoma. The child was asymptomatic at follow-up after 3 months. Only a few such cases in children are found in literature, which are discussed alongside. Differential diagnosis of this rare tumor must be kept in mind in a renal tumor as surgery is generally curative in this possibly malignant tumor. Metastasis confers a poor prognosis. Chemotherapy is generally not effective, although various regimens have been tried. Tumor recurrence must be kept in mind and a follow-up after apparent complete remission is of paramount importance.
Rare cause of coronary artery ectasia in children: A case report of methylmalonic acidemia with hyperhomocysteinemia
Authors: Tu Juan, Chen Chao-Ying, Li Hua-Rong, Wan Ling
Journal: Front Pediatr (2022)
Keywords: case report, cobalamin c defect, coronary artery ectasia, homocystinemia, methylmalonic academia
MeSH terms: Case Reports

Background:
Methylmalonic acidemia (MMA) with hyperhomocysteinemia is caused by cobalamin deficiency, mainly due to disturbance of cobalamin C (cblC) metabolism. Its clinical manifestations involve many organs. However, cases of coronary artery ectasia have been rarely reported.
Case presentation:
Here, we report the case of a 4-year-old girl who was hospitalized mainly because of pallor, brown urine, and fatigue, followed by hypertension, renal insufficiency, hemolytic anemia, cardiac enlargement, cardiac insufficiency, and coronary artery ectasia. Thrombotic microangiopathy (TMA) was confirmed by renal pathological examination. Metabolic examination showed hyperhomocysteinemia and methylmalonic aciduria. Furthermore, genetic assessment confirmed MMACHC gene variant, which confirmed the final diagnosis of a cblC defect. Intramuscular injection of hydroxy-cobalamin, oral medications of betaine, levocarnitine, folic acid, and aspirin were administered. Three months later, the patient's condition was significantly improved. Anemia was corrected, and the renal function was normal. Heart size, cardiac function, and coronary artery structure completely returned to normal.
Conclusion:
The clinical manifestation of cblC deficiency is atypical. This critical condition may be associated with multiple organ involvement. A rare complication, coronary artery ectasia, can also occur. Early identification, careful evaluation, and appropriate treatment are crucially important for the improvement of this disease prognosis.
Preventing complicated transseptal puncture with intracardiac echocardiography: case report
Authors: Tchavdar Nikolov Shalganov, Dora Paprika, Sarolta Borbás, András Temesvári, Tamás Szili-Török
Journal: Cardiovasc Ultrasound (2005)
MeSH terms: Cardiac Catheterization / adverse effects, Catheter Ablation / adverse effects, Heart Septum / diagnostic imaging, Heart Septum / injuries, Ultrasonography, Interventional / methods, Wounds, Penetrating / diagnostic imaging, Wounds, Penetrating / prevention & control, Case Reports, Aged, Humans, Male, Wounds, Penetrating / etiology

Background:
Recently, intracardiac echocardiography emerged as a useful tool in the electrophysiology laboratories for guiding transseptal left heart catheterizations, for avoiding thromboembolic and mechanical complications and assessing the ablation lesions characteristics. Although the value of ICE is well known, it is not a universal tool for achieving uncomplicated access to the left atrium. We present a case in which ICE led to interruption of a transseptal procedure because several risk factors for mechanical complications were revealed.
Case presentation:
A case of a patient with paroxysmal atrial fibrillation and atrial flutter, and distorted intracardiac anatomy is presented. Intracardiac echocardiography showed a small oval fossa abouting to an enlarged aorta anteriorly. A very small distance from the interatrial septum to the left atrial free wall was seen. The latter two conditions were predisposing to a complicated transseptal puncture. According to fluoroscopy the transseptal needle had a correct position, but the intracardiac echo image showed that it was actually pointing towards the aortic root and most importantly, that it was virtually impossible to stabilize it in the fossa itself. Based on intracardiac echo findings a decision was made to limit the procedure only to ablation of the cavotricuspid isthmus and not to proceed further so as to avoid complications.
Conclusion:
This case report illustrates the usefulness of the intracardiac echocardiography in preventing serious or even fatal complications in transseptal procedures when the cardiac anatomy is unusual or distorted. It also helps to understand the possible mechanisms of mechanical complications in cases where fluoroscopic images are apparently normal.
Case Report: Membranous Nephropathy Secondary to Cobalamin C Disease
Authors: Qiang Wang, Qi Wang, Yanxia Gao, Chenquan Tang, Zhaoli Gao, Zhao Hu
Journal: Front Med (Lausanne) (2022)
Keywords: mmachc, cobalamin c disease, hydroxylcobalamin, methylmalonic academia, secondary membranous nephropathy
MeSH terms: Case Reports

Background:
Mutation of MMACHC causes inherited cobalamin C disease with methylmalonic academia (MMA) and homocysteinemia. Renal complications may also be present in patients with this deficiency. However, membranous nephropathy secondary to cobalamin C disease has not been reported to date.
Case presentation:
We encountered a 17-year-old female patient with a trans-compound mutation of MMACHC who presented with membranous nephropathy, MMA, homocysteinemia, and hyperuricemia. The mutations of c.80A>G (chr1:45966084) and c.482G>A (chr1:45974520) (predicting p.Gln27Arg and p.Arg161Gln missense changes at the amino acid level) had been inherited from her father and mother, respectively. Hydroxocobalamin, betaine, and L-carnitine were administered. The patient achieved complete remission of the membranous nephropathy and resolution of the MMA, homocysteinemia, and hyperuricemia.
Conclusion:
Membranous nephropathy secondary to cobalamin C disease is reversible with timely intervention.
Case Report: Dual Target Deep Brain Stimulation With Externalized Programming for Post-traumatic Complex Movement Disorder
Authors: Ron Gadot, Ben Shofty, Ricardo A Najera, Adrish Anand, Garrett Banks, Abdul Basit Khan, Melissa A LoPresti, Nora Vanegas Arroyave, Sameer A Sheth
Journal: Front Neurosci (2021)
Keywords: drtt = dentato-rubro-thalamic tract, deep brain stimulation, movement disorder, trauma, tremor
MeSH terms: Case Reports

Introduction: Movement disorders can be common, persistent, and debilitating sequelae of severe traumatic brain injury. Post-traumatic movement disorders are usually complex in nature, involving multiple phenomenological manifestations, and can be difficult to control with medical management alone. Deep brain stimulation (DBS) has been used to treat these challenging cases, but distorted brain anatomy secondary to trauma can complicate effective targeting. In such cases, use of diffusion tractography imaging and inpatient testing with externalized DBS leads can be beneficial in optimizing outcomes. Case Description: We present the case of a 42-year-old man with severe, disabling post-traumatic tremor who underwent bilateral, dual target DBS to the globus pallidus internus (GPi) and a combined ventral intermediate nucleus of the thalamus (Vim)/dentato-rubro-thalamic tracts (DRTT) target. DRTT fiber tracts were reconstructed preoperatively to assist in surgical targeting given the patient's distorted anatomy. Externalization and survey of the four leads extra-operatively with inpatient testing allowed for internalization of the leads that demonstrated benefit. Six months after surgery, the patient's tremor and dystonic burden had decreased by 67% in the performance sub-score of The Essential Tremor Rating Scale (TETRAS). Conclusion: A patient-tailored approach including target selection guided by individualized anatomy and tractography as well as extra-operative externalized lead interrogation was shown to be effective in optimizing clinical outcome in a patient with refractory post-traumatic tremor.
Cecocolic intussusception in adult caused by acute appendicitis
Authors: Jeonghyun Kang, Kang Young Lee, Seung-Kook Sohn
Journal: Case Rep Surg (2014)

Intussusception in adult is rare. The etiology is different from that of childhood. The most common cause of intussusception in adult is known as malignancy. When dealing with adult intussusception, surgical resection is usually warranted for correct diagnosis and proper treatment. This is a case report of cecocolic intussusception caused by an acute appendicitis in adult. The causes of cecocolic intussusception were reported as appendiceal adenocarcinoma, appendiceal mucocele, appendiceal adenoma, or idiopathic. Although this patient underwent laparoscopic right hemicolectomy under suspicion of malignancy at cecum base, final pathologic diagnosis revealed only acute appendicitis. Thus, the present case emphasizes the importance of prior thorough examinations including colonoscopy when we encounter this rare kind of intussusception in adult.
Simultaneous Papillary Carcinoma in Thyroglossal Duct Cyst and Thyroid
Authors: Gustavo Cancela E Penna, Henrique Gomes Mendes, Adele O Kraft, Cynthia Koeppel Berenstein, Bernardo Fonseca, Wagner José Martorina, Andreise Laurian N R de Souza, Gustavo Meyer de Moraes, Kamilla Maria Araújo Brandão Rajão, Bárbara Érika Caldeira Araújo Sousa
Journal: Case Rep Endocrinol (2017)
MeSH terms: Case Reports

Thyroglossal duct cyst (TDC) is a cystic expansion of a remnant of the thyroglossal duct tract. Carcinomas in the TDC are extremely rare and are usually an incidental finding after the Sistrunk procedure. In this report, an unusual case of a 36-year-old woman with concurrent papillary thyroid carcinoma arising in the TDC and on the thyroid gland is presented, followed by a discussion of the controversies surrounding the possible origins of a papillary carcinoma in the TDC, as well as the current management options.
Ureteral Rupture Caused by Accidental Intubation of the Ureter with a Foley-Catheter during Ureterorenoscopy
Authors: F Löcherbach, P Grimsehl, A Sauer, S Wyler, M Kwiatkowski
Journal: Case Rep Urol (2018)
MeSH terms: Case Reports

We would like to present the case of a 64-year-old woman who underwent ureterorenoscopy and suffered an iatrogenic ureteral lesion due to an accidental intubation of the left ureter with a Foley-Catheter during the procedure. A Double-J-Stent was implanted into the damaged ureter, and 6 weeks later it fully recovered. To our knowledge there are few similar cases described in the literature with none of those having happened during ureterorenoscopy so far.
Case Report: Use of endobronchial Watanabe spigot and coagulation factor XIII supplementation in the treatment of persistent pneumothorax due to pneumocystis pneumonia with human immunodeficiency virus infection
Authors: Katsumasa Koyama, Daisuke Minami, Hayato Isobe, Ryo Shirai, Niro Okimoto, Koichi Tomoda
Journal: Front Med (Lausanne) (2022)
Keywords: blood coagulation factor xiii, endobronchial watanabe spigot, human immunodeficiency virus, pneumocystis jiroveceii pneumonia, pneumothorax
MeSH terms: Case Reports

Pneumocystis jiroveceii pneumonia is one of the most common opportunistic infections associated with human immunodeficiency virus. Endobronchial Watanabe spigot has been recommended for refractory pneumothorax, even with persistant air leak despite continuous negative pressure control via thoracic drainage. Moreover, coagulation factor XIII is considered effective in wound healing.
Postoperative ecchymoma of eyelid after botulinum toxin injection for hemifacial spasm: a case report
Authors: Xinyu Hu, Kexin Guo, Jingwen Li, Xinyi Wang, Hanshu Liu, Qinwei Yu, Guiying Kuang, Gang Li, Jinsha Huang, Hongge Li, Zhicheng Lin, Nian Xiong
Journal: Front Neurol (2023)
Keywords: botulinum toxin injection, case report, eyelid, hemifacial spasm, postoperative ecchymoma
MeSH terms: Case Reports

Hemifacial spasm (HFS) is a rare movement disorder characterized by involuntary muscle contractions on one side of the face. Compared to the high therapeutic effect, adverse effects of botulinum toxin treatment for HFS occurred rarely. However, managing HFS patients who are also taking antithrombotic drugs poses a challenge. Here, we present a case of postoperative ecchymoma of the eyelid following a botulinum toxin injection in a patient receiving daily vinpocetine and aspirin antiplatelet therapy. This case highlights the importance of considering the potential risks and formulating a treatment plan that maximizes benefit while minimizing complications in HFS patients undergoing botulinum toxin injections and taking antithrombotic medications. To the best of our knowledge, this is the first reported case of postoperative ecchymoma of the eyelid following a botulinum toxin injection. Further research and additional case reports are needed to better understand the management strategies for this patient population.
Dual right coronary artery: an unconventional presentation from Pakistan
Authors: Jahanzeb Malik, Nismat Javed
Journal: Pan Afr Med J (2020)
Keywords: coronary artery, rca, dual, intervention
MeSH terms: Coronary Vessel Anomalies / diagnosis, Case Reports, Coronary Angiography, Coronary Vessel Anomalies / pathology, Humans, Male, Middle Aged, Pakistan

There is a significant variation in the mapping of epicardial coronary arteries. This variation may present as different anomalies. These anomalies are usually asymptomatic and can be present at birth. Some might become symptomatic during adulthood and subsequently, result in sudden death. The anomalies, in turn, present a challenge to clinicians during therapeutic intervention. Therefore, there is a growing need to have knowledge about the various forms of the coronary artery anomalies. In our case report, we present the case of a patient who had one such anomaly and provide a hint at one strategy that was used to tackle the challenge.
Combined occurrence of diabetes mellitus and retinitis pigmentosa
Authors: Afaf Al-Adsani, Fadl Abdel Gader
Journal: Ann Saudi Med (2010)
MeSH terms: Alstrom Syndrome / diagnosis, Bardet-Biedl Syndrome / diagnosis, Diabetes Mellitus, Type 1 / complications, Retinitis Pigmentosa / complications, Case Reports, Adult, Ataxia, Humans, Insulin Resistance, Male

The combined occurrence of diabetes mellitus (DM) and retinitis pigmentosa (RP) is rare. It has been reported in the form of four different syndromes that are inherited in an autosomal recessive fashion. We describe two cases of DM and RP occurring together. The first case was a 35-year-old male who presented with insulin-treated diabetes, obesity, hypertension, polydactyly, normal cognitive functions, an ataxic gait, blindness secondary to RP, dyslipidemia, impaired renal function, and multiple renal cysts. He was diagnosed clinically as having Bardet-Biedl syndrome. The second case was a 34-year-old male who presented with insulin-resistant diabetes, hypertension, blindness secondary to RP, deafness, normal cognitive functions, primary infertility, renal, and liver impairment. He was diagnosed clinically as having Alström syndrome. Because of overlapping clinical manifestations and the cost and time involved in genetic studies, clinical criteria can be used for diagnosis and as a guide for genetic mapping in these patients.
Work-related COPD after years of occupational exposure
Authors: YounMo Cho, JongIn Lee, Min Choi, WonSeon Choi, Jun-Pyo Myong, Hyoung-Ryoul Kim, Jung-Wan Koo
Journal: Ann Occup Environ Med (2015)
Keywords: copd, fuel oils, occupational exposure, silica
MeSH terms: Case Reports

Background:
Cigarette smoking is known as the most important risk factor of chronic obstructive pulmonary disease (COPD). However, occupational exposure to other substances can result in COPD.
Case report:
A 76-year-old man with occupational exposures to mixtures of silica dust, gas, and fumes for 10 years and with a 25 pack-year smoking history was diagnosed with COPD. His computed tomogram scan revealed some hyperinflation with emphysematous change in both upper lobes. In the pulmonary function tests, his post-bronchodilator forced vital capacity (FVC), forced expiratory volume in one second (FEV1), and FEV1/FVC% were 2.20 L (67% of the predicted value), 1.12 L (52% of the predicted value), and 51%, respectively, indicating moderate COPD. This case of COPD was confirmed as a work-related disease by the Occupational Lung Disease Research Institute in Korea Workers' Compensation & Welfare Service.
Conclusion:
Exposure to various substances such as silica dust, gas, and fumes from furnace and boiler installation was likely the cause of COPD in this patient. Thus, occupational exposure should be considered an important risk factor of COPD.
Acute Nonatherosclerotic Coronary Thromboembolism Presenting with an Inferior STEMI in a Patient on Oral Contraception
Authors: Nabil Braiteh, Raheel Chaudhry, Ibraheem Rehman, Jowana Breiteh, Alon Yarkoni
Journal: Case Rep Cardiol (2021)
MeSH terms: Case Reports

Background:
Direct coronary embolism in the setting of oral contraceptive pill (OCP) use is a rare adverse effect. It is known for OCP to increase the risk of thrombosis; however, leading to an inferior ST elevated myocardial infarction (STEMI) due to an acute occlusive embolism is a rare entity. Coronary embolism occurs in about 3% of patients with acute coronary syndrome. Case Report. We present a case of a young 41-year-old female with a past medical history significant for dysfunctional uterine bleeding on oral contraceptive pills, who presented to the hospital with chest pain. Her workup was significant for troponin elevation and an electrocardiogram showing inferior ST elevations. The patient was taken emergently to the cardiac catheterization lab. A coronary angiogram revealed a coronary thrombus involving the distal left main and proximal left anterior descending (LAD) with no evidence of atherosclerotic disease. The patient subsequently received anticoagulation therapy leading to complete resolution of symptoms and ST elevations.
Conclusion:
Coronary embolism is rare and often not considered in the differential of acute coronary syndrome. It is of utmost importance for clinicians to keep a wide differential of nonatherosclerotic causes of STEMI especially when the patient is young, without significant cardiac risk factors.
Cesarean scar pregnancy: A case report with surgical management after initially effective conservative treatment
Authors: Ioannis Tsakiridis, Ioannis Chatzikalogiannis, Apostolos Mamopoulos, Themistoklis Dagklis, Georgios Tsakmakidis, Apostolos Athanasiadis, Ioannis Kalogiannidis
Journal: Int J Surg Case Rep (2019)
Keywords: cesarean scar pregnancy, conservative, ectopic, management, surgical

Introduction:
The incidence of cesarean scar pregnancies (CSPs) is increasing, possibly due to higher rates of cesarean sections. We report a case of a CSP with severe bleeding following initial conservative management, that was eventually treated surgically.
Presentation of the case:
A 33-year old woman with history of one cesarean section presented with abdominal pain and amenorrhea and was diagnosed with CSP. Conservative management with methotrexate was chosen and the treatment was regarded as successful after the expected reduction in serum hCG levels. Four days after the hospital discharge, the patient was readmitted with hemodynamic instability and an emergency laparotomy was performed to remove the remaining trophoblastic tissue.
Discussion:
A CSP may present as a threatened miscarriage, or remain asymptomatic through the first trimester. Medical treatment may be successful, however a close follow-up is needed even after a reduction in serum hCG levels.
Conclusion:
We report a case of CSP that, following an initial apparently "successful" treatment with methotrexate, required surgical management due to heavy bleeding.
Anaphylactic shock following the bite of a wild Kayan slow loris (Nycticebus kayan): implications for slow loris conservation
Authors: George Madani, K Anne-Isola Nekaris
Journal: J Venom Anim Toxins Incl Trop Dis (2014)
Keywords: adrenaline, anaphylaxis, animal bite, hematuria, hypersensitivity, malaysia, mammal venom, necrosis, paresthesia, systemic reaction
MeSH terms: Case Reports

Background:
Asian slow lorises (Nycticebus spp.) are one of few known venomous mammals, yet until now only one published case report has documented the impact of their venomous bite on humans. We describe the reaction of a patient to the bite of a subadult Nycticebus kayan, which occurred in the Mulu District of Sarawak in 2012.
Findings:
Within minutes of the bite, the patient experienced paraesthesia in the right side of the jaw, ear and right foot. By 40 minutes, swelling of the face was pronounced. The patient was admitted to Mulu National Park Health Clinic/Klinik Kesihatan Taman Mulu Tarikh, at which time he was experiencing: swollen mouth, chest pain, mild abdominal pain, nausea, numbness of the lips and mouth, shortness of breath, weakness, agitation and the sensation of pressure in the ears due to swelling. The blood pressure was 110/76, the heart ratio was 116 and oxygen saturation was 96%. The patient was treated intramuscularly with adrenaline (0.5 mL), followed by intravenous injection of hydrocortisone (400 mg) and then intravenous fluid therapy of normal saline (500 mg). By 8 h10 the next day, the patient's condition had significantly improved with no nausea, and with blood pressure and pulse rate stable.
Conclusions:
A handful of anecdotes further support the real danger that slow loris bites pose to humans. As the illegal pet trade is a major factor in the decline of these threatened species, we hope that by reporting on the danger of handling these animals it may help to reduce their desirability as a pet.
Systemic granulomatous reaction secondary to treatment of bladder cancer with bacillus calmette-guerin
Authors: Caterina Giovanna Valentini, Valentina Bozzoli, Anna Rita Larici, Luigi Maria Larocca, Giovanni Delogu, Giuseppe Leone, Livio Pagano
Journal: Mediterr J Hematol Infect Dis (2012)
MeSH terms: Case Reports

Intravesical instillation of Bacillus Calmette-Guérin is the elective treatment for transitional cell and in situ bladder carcinoma. Severe complications occur very seldom, but must be known and promptly recognized. We describe the case of a 48-year-old man, treated with chemo-immunotherapy ten years before for a follicular lymphoma, who developed a systemic granulomatous reaction after his twelfth intravescical BCG instillation for bladder cancer.