OpenMed/multicare-articles huggingface dataset:
Adrenal cortical carcinoma masquerading as pheochromocytoma: a case report
Authors: H Ni, A Htet
Journal: Ecancermedicalscience (2012)
Keywords: adrenal tumours, adrenocortical carcinoma, paroxysmal hypertension, pheochromocytoma, urinary vanillyl mandelic acid
MeSH terms: Case Reports

Adrenocortical carcinoma (ACC) is a malignant tumour arising from the adrenal cortex, while pheochromocytoma is a catecholamine secreting tumour of the adrenal medulla or extra adrenal sites. Both conditions are very rare, with incidence of approximately 1-2 cases per million adults annually. Most adrenocortical tumours are functioning. ACC can be associated with clinical Cushing syndrome and virilisation due to excessive production of cortisol and androgens, respectively. However, it is rare for ACC to present clinically as pheochromocytoma. We report a case of a 28-year-old lady who presented with paroxysmal hypertension and palpitations associated with raised urinary vanillyl mandelic acid. On examination, there was postural hypotension and ballotable mass in right lumbar region with no obvious features suggestive of Cushing syndrome or virilisation. A huge right suprarenal mass with areas of necrosis and calcification was noted on the abdomen CT. A right adrenalectomy was done. The histology was consistent with ACC. There are reported cases of ACC presenting with clinical features of pheochromocytoma but limited in number, accounting for barely a dozen cases in the literature. This pseudopheochromocytoma may be due to the presence of neuroendocrine features in ACC.
A Case Report: Pseudoangiomatous Stromal Hyperplasia Tumor Presenting as a Palpable Mass
Authors: Q D Vo, G Koch, J M Girard, L Zamora, Jean Bouquet de Jolinière, F Khomsi, A Feki, H M Hoogewoud
Journal: Front Surg (2016)
Keywords: mri, breast tumor, mammography, phyllode tumor, pseudoangiomatous stromal hyperplasia
MeSH terms: Case Reports

We report a case of woman with a palpable lump on her left breast. On mammography, a huge mass located between the inner and the outer inferior breast quadrants of the left breast was found. The ultrasound examination realized later revealed a heterogeneous mass with smooth and lobulated borders. An MRI was also performed, showing an oval mass with heterogeneous areas of enhancement. Finally, a core biopsy under sonographic guidance revealed a pseudoangiomatous stromal hyperplasia of the breast.
Intraocular inflammation in a case of bee sting injury
Authors: Ekta Rishi, Pukhraj Rishi
Journal: GMS Ophthalmol Cases (2018)
Keywords: bee sting, choroidal detachment, pupil, uveitis, vitritis
MeSH terms: Case Reports

A19-year-old man presented with decreased vision in the right eye following a bee sting injury, ten days back. Examination revealed conjunctival hyperemia at the site of the sting, anterior uveitis, vitritis, mild disc hyperemia, ocular hypotony, and striae at macula. Treatment was initiated elsewhere with topical antibiotics, steroid, and cycloplegic. Systemic steroids were added. Three weeks later, vitiritis resolved, intraocular pressure became normal and the vision improved from 20/60 to 20/20. However, a chorioretinal atrophy in the vicinity of the sting site was noted. Global electroretinogram (ERG) revealed reduced scotopic responses and depressed oscillatory potentials; even though the photopic response was normal. Multifocal ERG and microperimetry were normal. Two months later, after discontinuation of medication, a traumatic mydriasis with a sluggish pupillary reaction was noted. Sixteen months later, the fundus remained stable. This is a rare case report of a bee sting injury leading to anterior uveitis, vitritis, and cilio-choroidal detachment, mimicking endophthalmitis. Timely recognition of the cause of the intraocular inflammation and appropriate treatment led to optimal recovery.
Case Report: The effective treatment of patients in advanced no-small cell lung cancer patients with EGFR G719X/S768I/L861Q and acquired MET amplification: A case series and literature review
Authors: Yun Zhao, Cuiyun Su, Lina Shi, Wenqi Luo, Zhen Liu, Chuqiao Liang, Huilin Wang, Ruiling Ning, Qitao Yu, Wei Jiang
Journal: Front Oncol (2023)
Keywords: egfr g719x/s768i/l861q, met amplification, non-small cell lung cancer (nsclc), resistance, uncommon mutation
MeSH terms: Case Reports

Preclinical cases suggest that EGFR tyrosine kinase inhibitors (TKIs) plus MET TKIs are a potential therapy for non-classical EGFR mutant lung cancers with MET amplification acquired resistance. Herein, we report for the first time the effectiveness of novel combination treatment regimens for patients with EGFR G719X/S768I/L861Q. Until the last follow-up assessment, two patients demonstrated improved survival after they switched to afatinib combined with savolitinib (PFS: 10 months) and furmonertinib combined with crizotinib (PFS: 6 months), respectively, that did not observed increased incidence and severity of adverse events. According to the findings of this study and literature review, various responses were observed from the combined therapy in NSCLC patients who harbored uncommon EGFR mutations and MET amplification. Furthermore, Next generation sequencing (NGS) leads to the discovery of uncommon of EGFR and reveals the co-mutations in NSCLC.
Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome
Authors: Pengjiang Kang, Weihua Zhang, Jinquan Wen, Jiming Zhang, Fei Li, Wuxia Sun
Journal: Front Pediatr (2021)
Keywords: slc19a2, case report, diabetes, megaloblastic anemia syndrome, thiamine
MeSH terms: Case Reports

Background: Thiamine-responsive megaloblastic anemia syndrome (TRMA) is a rare autosomal recessive hereditary disease due to mutations in SLC19A2. Some cases show familial inheritance. Case report: A female patient (from a gravida 1, para 1 mother) of 3.5 years of age was admitted to the Pediatric Hematology Department of Xianyang Caihong Hospital in June 2019. The patient had severe anemia, acupoint-size bleeding spots, and a few ecchymoses all over her body, as well as astigmatism and hyperopia. Hearing was normal. The patient had diabetes. Bone marrow biopsy suggested a myelodysplastic syndrome. The patient had a c.515G>A (p.G172D) homozygous mutation of SLC19A2 (NM_006996), indicating TRMA. Genetic testing revealed that the two alleles were inherited from her mother alone due to maternal uniparental isodisomy (UPD). The patient was treated with thiamine and a subcutaneous injection of insulin. The patient recovered well and was discharged. She continued thiamine and insulin at the same dose and was followed once a month. The last follow-up on September 15, 2020, showed no anemia or bleeding. She had a sound hearing and normal blood routine and fasting glucose levels. Hyperopia and astigmatism did not improve. Conclusion: The patient had TRMA induced by the c.515G>A (p.G172D) homozygous mutation of SLC19A2 inherited through maternal UPD. The genetic diagnosis of TRMA is of significance for guiding clinical treatment. Early treatment with exogenous thiamine can improve some of the clinical features of TRMA.
Recurrent thrombotic thrombocytopenic purpura-like syndrome as a paraneoplastic phenomenon in malignant peritoneal mesothelioma: a case report and review of the literature
Authors: Francisco Socola, Arturo Loaiza-Bonilla, Ernesto Bustinza-Linares, Ricardo Correa, Joseph D Rosenblatt
Journal: Case Rep Oncol Med (2012)

We report the case of an African American male with no significant past medical history presenting with recurrent, rapidly relapsing episodes of thrombotic thrombocytopenic purpura (TTP) despite aggressive treatment with several lines of treatment. Incidentally, these episodes were associated with severe abdominal pain which eventually developed into acute abdomen and prompted exploratory laparotomy, revealing diffuse carcinomatosis with a tumor located on the left pelvis that was encasing the distal sigmoid colon. Pathology made a final diagnosis of peritoneal mesothelioma. TTP-like syndrome (TTP-LS) has been described as a paraneoplastic phenomenon in several malignancies but never before in the setting of malignant mesothelioma. Paraneoplastic TTP-like syndrome has historically been associated with a dismal prognosis and particular clinical and laboratory abnormalities described in this paper. It is of utmost importance to make a prompt determination whether TTP is idiopathic or secondary to an underlying condition because of significant differences in their prognosis, treatment, and response. This paper also reviews the current literature regarding this challenging condition.
Roseomonas gilardii in patient with leukemia and acute appendicitis: case report and review
Authors: Francesk Mulita, Nikoleta Oikonomou, Athanasios Provatidis, Agelos Alexopoulos, Ioannis Maroulis
Journal: Pan Afr Med J (2020)
Keywords: appendicitis, roseomonas gilardii, acute lymphoblastic leukemia
MeSH terms: Appendicitis / complications, Gram-Negative Bacterial Infections / diagnosis, Leukemia / complications, Methylobacteriaceae / isolation & purification, Case Reports, Review, Acute Disease, Adolescent, Appendectomy, Appendicitis / diagnosis, Appendicitis / microbiology, Appendicitis / surgery, Diagnosis, Differential, Female, Gram-Negative Bacterial Infections / complications, Gram-Negative Bacterial Infections / surgery, Humans, Leukemia / diagnosis, Leukemia / microbiology, Leukemia / surgery, Roseomonas gilardii

Appendicitis is one of the most common abdominal conditions requiring emergency surgery. However, acute appendicitis in patients with leukemia is a rare condition. We report herein the case of an 18-year-old female with acute lymphoblastic leukemia (ALL), who was hospitalized in hematology department because of abdominal pain and fever. Ultrasound (US) of the abdomen revealed appendicitis and the patients underwent open appendectomy. The patient recovered without complications and was discharged in a good condition. The day of the operation blood and peritoneal fluid cultures were taken and Roseomonas gilardii was detected and healed empirically. The correct diagnosis of appendicitis in patients with leukemia and their management is challenging for physicians. Very rare microorganisms can be detected in these patients.
Improvement of granulomatous skin conditions with tofacitinib in three patients: A case report
Authors: Meghan L McPhie, William C Swales, Melinda J Gooderham
Journal: SAGE Open Med Case Rep (2021)
Keywords: granuloma annulare, janus kinase inhibitors, case report, necrobiosis lipoidica, tofacitinib
MeSH terms: Case Reports

Granulomatous skin conditions are poorly understood inflammatory skin diseases consisting predominantly of macrophages. Granuloma annulare (GA) is the most common granulomatous skin disease and the generalized variant is particularly difficult to treat due to the prolonged course and lack of efficacious treatment options. Necrobiosis lipoidica (NL) is another granulomatous disorder of uncertain etiology. There is a growing body of evidence for the use of Janus kinase (JAK) inhibitors in the management of inflammatory skin diseases. In our report, we describe three patients with recalcitrant granulomatous disease including NL and generalized GA who responded favourably to treatment with the JAK inhibitor tofacitinib. JAK inhibitors may be a beneficial therapeutic option for patients with granulomatous skin diseases that are unresponsive to conventional therapies. Further research is required to determine the long-term efficacy and safety of JAK inhibitors in treating granulomatous skin conditions.
Rectal atresia-operative management with endoscopy and transanal approach: a case report
Authors: Pernilla Stenström, Christina Clementson Kockum, Einar Arnbjörnsson
Journal: Minim Invasive Surg (2011)
MeSH terms: Case Reports

The aim of this study is to present the technique and outcome of the management of a newborn child with rectal atresia. A girl born with rectal atresia was diagnosed during physical examination and confirmed with X-ray. The anatomic appearance of the external anus, and lower pelvis was normal. The rectal ending was located 2 cm cranial from the anus and the distance between the rectal endings was 2 cm. A colostomy was established. At the age of five months the child was operated on with a rectal anastomosis using the endoscopic and transanal approach. Closure of the colostomy was performed at the age of ten months. The rectal anastomosis was treated with rectal dilatation weekly in order to avoid stricture. The patient was faecally continent at followup one and three months postoperatively. In conclusion, the endoscopic and transanal approach is an alternative to other surgical techniques in the management of rectal atresia.
A case of SLE with COVID-19 and multiple infections
Authors: Ruoqi Ning, Silu Meng, Fangxu Tang, Chong Yu, Dong Xu, Xiaofang Luo, Haiying Sun
Journal: Open Med (Wars) (2020)
Keywords: covid-19, sars-cov-2, sle, hydroxychloroquine, multiple infections
MeSH terms: Case Reports

The coronavirus disease 2019 (COVID-19) has become a global pandemic, which is induced by infection of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Patients with systemic lupus erythematosus (SLE) are susceptible to infections due to the chronic use of immunosuppressive drugs and the autoimmune disorders. Now we report a case of SLE infected with SARS-CoV-2, influenza A virus and Mycoplasma pneumoniae concurrently. The patient used hydroxychloroquine and prednisone chronically to control the SLE. After infection of SARS-CoV-2, she was given higher dose of prednisone than before and the same dosage of hydroxychloroquine. Besides, some empirical treatments such as antiviral, antibiotic and immunity regulating therapies were also given. The patient finally recovered from COVID-19. This case indicated that hydroxychloroquine may not be able to fully protect SLE patient form SARS-CoV-2. Intravenous immunoglobulin therapies and increased dose of corticosteroids might be adoptable for patient with both COVID-19 and SLE. Physicians should consider SARS-CoV-2 virus test when SLE patient presented with suspected infection or SLE flare under the epidemic of COVID-19.
Case report: A multiple sclerosis patient with imaging features of glymphatic failure benefitted from CSF flow shunting
Authors: Antonio Scollato, Francesco Lolli, Giancarlo Lastrucci, Anna Repice, Giuseppe De Santis, Claudio Nicoletti, Berardino Porfirio, Pasquale Gallina
Journal: Front Neurosci (2022)
Keywords: csf dynamic disturbances, csf shunting, glymphatic system, multiple sclerosis, perivascular space
MeSH terms: Case Reports

The derangement of CSF circulation impacts the functions of the glymphatic-lymphatic system (G-Ls), which regulates solute trafficking and immune surveillance in the CNS. The G-Ls failure leads to the dysregulation of clearance of waste molecules in the brain and to an altered CNS immune response. The imaging features of dilated perivascular spaces imply the impairment of the G-Ls. We report on the case of a patient with primary progressive multiple sclerosis and dilatation of perivascular spaces, who transiently improved after CSF shunt diversions. The underlying mechanisms remain to be determined and at this stage, it is not possible to link CSF diversion to an effect on MS pathology. However, this observation provides the rationale to incentivize research in the largely unknown area of CSF dynamic disturbances on G-Ls failure and ultimately in neurodegeneration.
(18)F-FDG-PET Scanning Confirmed Infected Intracardiac Device-Leads with Abiotrophia defectiva
Authors: Sonja van Roeden, Hans Hartog, Vivian Bongers, Steven Thijsen, Sanjay Sankatsing
Journal: Case Rep Cardiol (2016)

Abiotrophia species are relatively slow growing pathogens, which may be present as commensal flora. However, invasive infections are frequently reported, like endocarditis, septic arthritis, osteomyelitis, and many other types of infection. In this case report we describe a 65-year-old male patient with an intracardiac device- (ICD-) lead infection caused by Abiotrophia defectiva. Diagnosis was confirmed by (18)F-FDG-PET scanning. This is remarkable, since Abiotrophia defectiva is a slow growing pathogen causing low-grade infections. This case demonstrates that although infection of ICD-leads cannot be excluded in case of (18)F-FDG-PET-negative findings, positive findings are highly suggestive for infection.
Percutaneous method of management of simple bone cyst
Authors: O P Lakhwani
Journal: Case Rep Orthop (2013)

Introduction. Simple bone cyst or unicameral bone cysts are benign osteolytic lesions seen in metadiaphysis of long bones in growing children. Various treatment modalities with variable outcomes have been described in the literature. The case report illustrates the surgical technique of minimally invasive method of treatment. Case Study. A 14-year-old boy was diagnosed as active simple bone cyst proximal humerus with pathological fracture. The patient was treated by minimally invasive percutaneous curettage with titanium elastic nail (TENS) and allogenic bone grafting mixed with bone marrow under image intensifier guidance. Results. Pathological fracture was healed and allograft filled in the cavity was well taken up. The patient achieved full range of motion with successful outcome. Conclusion. Minimally invasive percutaneous method using elastic intramedullary nail gives benefit of curettage cyst decompression and stabilization of fracture. Allogenic bone graft fills the cavity and healing of lesion by osteointegration. This method may be considered with advantage of minimally invasive technique in treatment of benign cystic lesions of bone, and the level of evidence was therapeutic level V.
Intravenous Lipid Emulsion Therapy for Acute Synthetic Cannabinoid Intoxication: Clinical Experience in Four Cases
Authors: Gökhan Aksel, Özlem Güneysel, Tanju Taşyürek, Ergül Kozan, Şebnem Eren Çevik
Journal: Case Rep Emerg Med (2015)

There is no specific antidote for intoxication with synthetic cannabinoids. In this case series, we considered the efficiency of intravenous lipid emulsion therapy in four cases, who presented to emergency department with synthetic cannabinoid (bonzai) intoxication. The first patient had a GCS of 3 and a left bundle branch block on electrocardiography. The electrocardiography revealed sinus rhythm with normal QRS width after the treatment. The second patient had bradycardia, hypotension, and a GCS of 14. After intravenous lipid emulsion therapy, the bradycardia resolved, and the patient's GCS improved to 15. The third patient presented with a GCS of 8, and had hypotension and bradycardia. After the treatment, not only did the bradycardia resolve, but also the GCS improved to 15. The fourth patient, whose electrocardiography revealed accelerated junctional rhythm, had a GCS of 13. The patient's rhythm was sinus after the treatment. Cardiovascular recovery was seen in all four cases, and neurological recovery was also seen in three of them. Based on the fact that intravenous lipid emulsion is beneficial in patients intoxicated with lipophilic drugs, unstable patients presenting to the emergency department with acute synthetic cannabinoid intoxication may be candidates for intravenous lipid emulsion treatment.
Embolic Stroke due to a Common Carotid Artery Thrombus in a Young Patient with Severe Iron-Deficiency Anemia without Thrombocytosis
Authors: David Roshal
Journal: Case Rep Neurol Med (2016)

This case report describes a 41-year-old previously healthy male who presented with stuttering transient ischemic symptoms and radiographic evidence of a left common carotid artery thrombus as well as acute and subacute ischemic infarcts in the left middle cerebral artery territory. An exhaustive stroke work-up did not provide a plausible etiology for his symptoms. His complete blood count and iron studies, however, revealed evidence of severe iron-deficiency anemia without reactive thrombocytosis. His stool guaiac test was positive. He was discharged home on oral antithrombotic agents and aggressive iron replacement therapy with a plan for repeat vascular imaging in 3 months and a colonoscopy. This case report suggests that severe iron-deficiency anemia with or without reactive thrombocytosis should be viewed as a possible hematologic condition associated with thrombotic tendencies and a risk factor for ischemic stroke, especially in young adults. Aggressive iron supplementation and short-term antithrombotic therapy with follow-up vascular imaging are a reasonable treatment for these patients.
Regional overdistension during prone positioning in a patient with acute respiratory failure who was ventilated with a low tidal volume: a case report
Authors: Toru Kotani, Masanori Hanaoka, Shinya Hirahara, Hisashi Yamanaka, Eckhard Teschner, Atsuko Shono
Journal: J Intensive Care (2018)
Keywords: alveolar overdistension, mechanical ventilation, prone positioning, ventilator-induced lung injury
MeSH terms: Case Reports

Background:
Prone positioning may provide a uniform distribution of transpulmonary pressure and contribute to prevent ventilator-induced lung injury. However, despite moderate positive end-expiratory pressure and low tidal volumes, there is still a risk of regional overdistension.
Case presentation:
A man with refractory hypoxemia was mechanically ventilated with prone positioning. Although prone positioning with a plateau pressure of 18 cmH2O and a positive end-expiratory pressure of 8 cmH2O promptly improved oxygenation, regional ventilation monitoring using electrical impedance tomography initially detected decreased distribution in the dorsal region but increased in the ventral, suggesting overdistension.
Conclusions:
Our experience indicates monitoring regional ventilation distribution is useful for decreasing the risk of overdistension during prone positioning.
Lipoyltransferase 1 Gene Defect Resulting in Fatal Lactic Acidosis in Two Siblings
Authors: Véronique Taché, Liga Bivina, Sophie White, Jeffrey Gregg, Joshua Deignan, Simeon A Boyadjievd, Francis R Poulain
Journal: Case Rep Obstet Gynecol (2016)

A term male neonate developed severe intractable lactic acidosis on day of life 1 and died the same day at our institution. The family previously lost another term, female newborn on day of life 1 from suspected sepsis at an outside hospital. After performing an autopsy on the neonate who died at our institution, extensive and lengthy neonatal and parental genetic testing, as well as biochemical analyses, and whole exome sequencing analysis identified compound heterozygous mutations in the lipoyltransferase 1 (LIPT1) gene responsible for the lipoylation of the 2-keto dehydrogenase complexes in the proband. These mutations were also identified in the deceased sibling. The clinical manifestations of these two siblings are consistent with those recently described in two unrelated families with lactic acidosis due to LIPT1 mutations, an underrecognized and underreported cause of neonatal death. Conclusions. Our observations contribute to the delineation of a new autosomal recessive metabolic disorder, leading to neonatal death. Our case report also highlights the importance of an interdisciplinary team in solving challenging cases.