OpenMed/multicare-articles huggingface dataset:
Refractory Lactic Acidosis in Small Cell Carcinoma of the Lung
Authors: Daniel J Oh, Ellen Dinerman, Andrew H Matthews, Abraham W Aron, Katherine M Berg
Journal: Case Rep Crit Care (2017)
MeSH terms: Case Reports

Background:
Elevated lactate levels in critically ill patients are most often thought to be indicative of relative tissue hypoxia or type A lactic acidosis. Shock, severe anemia, and thromboembolic events can all cause elevated lactate due to tissue hypoperfusion, as well as the mitochondrial dysfunction thought to occur in sepsis and other critically ill states. Malignancy can also lead to elevation in lactate, a phenomenon described as type B lactic acidosis, which is much less commonly encountered in the critically ill.
Case presentation:
We present the case of a 73-year-old Caucasian woman with type 2 diabetes and hypertension who presented with abdominal pain, nausea, vomiting, nonbloody diarrhea, and weight loss over five weeks and was found to have unexplained refractory lactic acidosis despite fluids and antibiotics. She was later diagnosed with small cell carcinoma of the lung.
Conclusions:
In this case report, we describe a critically ill patient whose elevated lactate was incorrectly attributed to her acute illness, when in truth it was an indicator of an underlying, as yet undiagnosed, malignancy. We believe this case is instructive to the critical care clinician as a reminder of the importance of considering malignancy on the differential diagnosis of a patient presenting with elevated lactate out of proportion to their critical illness.
Metastatic prostate adenocarcinoma presenting central diabetes insipidus
Authors: Hakkı Yılmaz, Mustafa Kaya, Mücteba Can, Mustafa Ozbek, Bahir Keyik
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

The pituitary gland and infundibulum can be involved in a variety of medical conditions, including infiltrative diseases, fungal infections, tuberculosis, and primary and metastatic tumors. Metastases to the pituitary gland are absolutely rare, and they are generally secondary to pulmonary carcinoma in men and breast carcinoma in women. Pituitary metastases more commonly affect the posterior lobe and the infundibulum than the anterior lobe. The posterior lobe involvement may explain why patients with pituitary metastases frequently present with diabetes insipidus. We are presenting a case report of a 78-year-old male patient who had metastatic prostate with sudden onset of polyuria and persistent thirst. He had no electrolyte imbalance except mild hypernatremia. The MRI scan of the brain yielded a suspicious area in pituitary gland. A pituitary stalk metastasis was found on magnetic resonance imaging (MRI) of pituitary. Water deprivation test was compatible with DI. A clinical response to nasal vasopressin was achieved and laboratory results revealed central diabetes insipidus. As a result, the intrasellar and suprasellar masses decreased in size, and urinary output accordingly decreased.
Atypical Trigeminal Neuralgia Secondary to Meningioma
Authors: Premeshwar Niwant, Mukta Motwani, Sushil Naik
Journal: Case Rep Dent (2015)

Trigeminal neuralgia is a disorder of the fifth cranial nerve that causes episodes of intense, stabbing, electric shock-like pain that lasts from few seconds to few minutes in the areas of the face where the branches of the nerve are distributed. More than one nerve branch can be affected by the disorder. We report an unusual case of trigeminal neuralgia affecting right side of face presenting atypical features of neuralgia and not responding to the usual course of treatment. The magnetic resonance imaging study of brain revealed a large extra-axial mass involving right cerebellopontine angle region causing moderate pressure effect on trigeminal nerve and brain stem. The aim of this case report is to show a tumor of cerebellopontine angle, presenting clinically as atypical trigeminal neuralgia.
Combining genetic association study designs: a GWAS case study
Authors: Janice L Estus, Family Investigation of Nephropathy and Diabetes Research Group, David W Fardo
Journal: Front Genet (2013)
Keywords: case-control study, combined study design, diabetic nephropathies, family-based association analysis, genome-wide association

Genome-wide association studies (GWAS) explore the relationship between genome variability and disease susceptibility with either population- or family-based data. Here, we have evaluated the utility of combining population- and family-based statistical association tests and have proposed a method for reducing the burden of multiple testing. Unrelated singleton and parent-offspring trio cases and controls from the Genetics of Kidneys in Diabetes (GoKinD) study were analyzed for genetic association with diabetic nephropathy (DN) in type 1 diabetics (T1D). The Cochran-Armitage test for trend and the family-based association test were employed using either unrelated cases and controls or trios, respectively. In addition to combining single nucleotide polymorphism (SNP) p-values across these tests via Fisher's method, we employed a novel screening approach to rank SNPs based on conditional power for more efficient testing. Using either the population-based or family-based subset alone predictably limited resolution to detect DN SNPs. For 384,197 SNPs passing quality control (QC), none achieved strict genome-wide significance (1.4 × 10(-7)) using 1171 singletons (577/594 cases/controls) or 1738 pooled singletons and offspring probands (841/897). Similarly, none of the 352,004 SNPs passing QC in 567 family trios (264/303 case/control proband trios) reached genome-wide significance. Testing the top 10 SNPs ranked using aggregated conditional power resulted in two SNPs reaching genome-wide significance, rs11645147 on chromosome 16 (p = 1.74 × 10(-4) < 0.05/10 = 0.005) and rs7866522 on chromosome 9 (p = 0.0033). Efficient usage of mixed designs incorporating both unrelated and family-based data may help to uncover associations otherwise difficult to detect in the presence of massive multiple testing corrections. Capitalizing on the strengths of both types while using screening approaches may be useful especially in light of large-scale, next-generation sequencing and rare variant studies.
Acute pancreatitis after kidney transplantation
Authors: Mithat Tabakovic, Nermin N Salkic, Jasmina Bosnjic, Ervin Alibegovic
Journal: Case Rep Transplant (2012)
MeSH terms: Case Reports

Acute pancreatitis is a rare but life-threatening complication in patients with transplanted kidney. The incidence of acute pancreatitis after kidney transplantation ranges from 2% to 7%, with mortality rate between 50 and 100%. We report a case of a female patient aged 46 years, developing an interstitial acute pancreatitis 8 years following a renal transplantation. The specific aethiological factor was not clearly established, although possibility of biliary pancreatitis with spontaneous stone elimination and/or medication-induced pancreatitis remains the strongest. Every patient after renal transplantation with an acute onset of abdominal pain should be promptly evaluated for presence of pancreatitis with a careful application of the most appropriate diagnostic procedure for each individual patient.
Case report: Long-read sequencing identified a novel 14.9-kb deletion of the α-globin gene locus in a family with α-thalassemia in China
Authors: Yan Yuan, Xia Zhou, Jing Deng, Qun Zhu, Zanping Peng, Liya Chen, Ya Zou, Aiping Mao, Wanli Meng, Minhui Ma, Hongliang Wu
Journal: Front Genet (2023)
Keywords: large deletion, long-read sequencing, rare variant, thalassemia, α-globin gene locus
MeSH terms: Case Reports

Background: Thalassemia is a hereditary blood disease resulting from globin chain synthesis impairment because of α- and/or β-globin gene variants. α-thalassemia is characterized by non-deletional and deletional variants in the HBA gene locus, of which rare deletional variants are difficult to detect by conventional polymerase chain reaction (PCR)-based methods. Case report: We report the case of a one-month-old boy, who and his mother had abnormal hematological parameters, while his father had normal hematology. Conventional PCR-reverse dot blot (RDB) was performed for all family members to analyze the 23 most common thalassemia variants in China, but did not identify any pathologic variants. Single-molecule real-time (SMRT) long-read sequencing (LRS) technology was then performed and identified an unreported 14.9-kb large deletion (hg38 chr16:168,803-183,737) of the α-globin gene locus, which disrupted both HBA1 and HBA2 genes in the proband and his mother. The exact breakpoints of the deletion were confirmed by gap-PCR and Sanger sequencing. Conclusion: We have detected a novel large deletion in α-globin gene locus in China, which not only enriches the variant spectrum of thalassemia, but also demonstrates the accuracy and efficiency of LRS in detecting rare and novel deletions.
Ultrasound, Echocardiography, MRI, and Genetic Analysis of a Fetus with Congenital Diaphragmatic Hernia and Partial 11q Trisomy
Authors: Yolanda Fernández-Perea, Lutgardo García-Díaz, Javier Sánchez, Guillermo Antiñolo, Salud Borrego
Journal: Case Rep Obstet Gynecol (2017)
MeSH terms: Case Reports

Congenital diaphragmatic hernia (CDH) is a serious birth defect with a significant mortality and morbidity. The current and constant progress in ultrasound techniques has led to the improvement of the prenatal diagnosis of this malformation. CDH is a developmental defect whose etiology is heterogeneous and takes place when the pleuroperitoneal folds and septum transversum fail to converge and fuse. Survival depends on the extent of pulmonary hypoplasia and the disease may be potentially worsened by the presence of added congenital defects. 40% of CDH cases are associated with at least one additional anomaly. The ultrasound diagnosis is established with essential signs: loss of uniform echogenicity of lungs and marked mediastinal shift. We report the case of a fetus with isolated CDH diagnosed at 21 weeks of gestation by ultrasound and confirmed by RMI, whose genetic analysis of amniotic fluid cells identified a de novo partial trisomy of the long arm of chromosome 11. Different genetic causes have been associated with CDH. Moreover, it is expectable that the use of new techniques for prenatal diagnosis will reveal novel CNVs associated with CDH and will help us to estimate the recurrence risk for this defect as well as for other associated anomalies.
Robot-Assisted Laparoscopic Renal Schwannoma Excision
Authors: Jeremy Kelley, Ryan Collins, Christopher Allam
Journal: J Endourol Case Rep (2016)
Keywords: kidney, robot-assisted laparoscopy, schwannoma
MeSH terms: Case Reports

Background: To report the first case of a renal schwannoma excised with robot-assisted laparoscopy. Case Presentation: A 43-year-old Caucasian female patient with vague abdominal symptoms was noted to have incidental right renal mass. Physical examination and laboratory tests were within normal limits. CT revealed a 4.6 cm heterogeneous enhancing right renal mass arising near the hilum. RENAL nephrometry score was 11a. She was treated by right robot-assisted laparoscopic nephrectomy. She recovered well without complications. Pathology analysis revealed a benign renal schwannoma. Conclusion: Renal schwannoma is a rare kidney tumor. We report the first known case of this tumor excised by robot-assisted laparoscopic nephrectomy.
Case Report: Anterior Spinal Cord Ischemia Following Embolization of Cerebellar Arteriovenous Malformation: An Illustrative Case and Review of Spinal Cord Vascular Anatomy
Authors: Yasaman Moazeni, Donald R Cantrell, Jeffrey R Clark, Ramez N Abdalla, Ayush Batra, Michael C Hurley, Sameer A Ansari, Eric J Russell, Ali Shaibani
Journal: Front Neurol (2021)
Keywords: arteriovenous malformation, embolization, spinal cord, spinal cord ischemia, stroke, vascular diseases
MeSH terms: Case Reports

Spinal cord ischemia (SCI) is a rare entity with high mortality and morbidity which can arise from causes such as atherosclerosis, aortic dissection or aneurysm, thromboembolic events or systemic hypotension, and is a potential complication of spinal surgery. Published literature contains very few reports of SCI as a complication of intracranial interventions, highlighting the uncommon nature of SCI in these circumstances. We report the occurrence of anterior SCI in a 69-year-old patient following successful embolization of a cerebellar arteriovenous malformation (AVM), marked by upper extremity weakness, lower extremity paraplegia, loss of bladder and bowel control, and hypercapnic respiratory failure requiring mechanical ventilation. Magnetic resonance imaging (MRI) demonstrated upper cervical diffusion restriction and T2/STIR hyperintensity. Unusually, SCI occurred in this case without intraprocedural catheter wedging or obvious flow limitation, prolonged procedure time, hypercoagulable state, or general hypotension. We review previous cases in the literature as well as spinal cord vascular anatomy, and discuss the possible etiologies of this complication. Spinal cord ischemia could be a very rare complication of neuroendovascular procedures even in the absence of warning signs and should be carefully evaluated in patients with suspected neurologic symptoms after such procedures.
Symptomatic Extra-Adrenal Myelolipoma in the Spleen
Authors: Jonathan A Nitz, Jeremy Huckleby, Elise H Hwang, Melissa G Medina, Samuel J Pera, Sonia T Orcutt
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

A 42-year-old male patient presented with intermittent abdominal pain and gastrointestinal discomfort present for 4 years. Work-up included ultrasound and computed tomography, which identified a fat-containing splenic mass 5.6 cm in size. Due to recurrent symptoms, the patient sought medical care again. Subsequent images showed an increase in size to 7.6 cm, which was concerning for neoplasm. This was removed via open splenectomy, which was challenging due to intra-abdominal adhesions despite never having had any abdominal surgery. The patient's recovery was uncomplicated. Pathologic assessment indicated that the mass was a myelolipoma. Extra-adrenal myelolipomas are rare and typically found within the retroperitoneum but are extremely rare within the spleen. This case report adds the 6th such case to the literature and demonstrates the need for it to remain in the differential diagnosis of patients with fatty splenic masses, as well as that splenectomy is an appropriate treatment.
A complex surgery of spinal tuberculosis with a psoas abscess accompanied by fibula autografting: an alternative treatment of Pott's disease
Authors: Marah Mansour, Nour Tanta, Ghina Ismail, Tamim Alsuliman, Issam Salman
Journal: J Surg Case Rep (2023)
Keywords: mycobacterium tuberculosis, pott’s disease, fibula autografting, posterior-only approach, psoas abscess, spinal tb, tuberculosis, tuberculous spondylitis
MeSH terms: Case Reports

The most common manifestation of skeletal tuberculosis is tuberculosis spondylitis. Symptoms may progress insidiously from back pain to cause many severe complications. Early diagnosis and management of spinal tuberculosis have special importance in prevention. We report a case of a 24-year-old female who was diagnosed with tuberculous spondylitis, complicated with psoas abscess and grade 1/5 of lower limb weakness. The patient was treated with anti-tuberculous drugs and underwent surgical debridement, interbody fusion and internal fixation accompanied by fibular autografting using a posterior-only approach and supplemental posterior spinal stabilisation on an infected background. Within 14 years of follow-up, full bone graft spinal fusion has been achieved with no major complications. According to its clinical efficacy and feasibility, this procedure is suggested to be an alternative treatment for Pott's disease.
Atypical Posterior Reversible Encephalopathy Syndrome in a Postpartum Woman With Moyamoya Disease: A Case Report and Literature Review
Authors: Ning Zou, Guixiang Guo, Fangchao Wan, Xin Li
Journal: Front Neurol (2021)
Keywords: cerebrovascular occlusive disease, differential diagnosis, neurocognitive, postpartum woman, reversible posterior leukoencephalopathy syndrome
MeSH terms: Case Reports

Background: Moyamoya disease is a rare cerebrovascular occlusive disease, which is characterized by stenosis and gradual occlusion of the internal carotid arteries, causing the progression of characteristic collateral vessels. To date, most studies investigating moyamoya disease have focused on medical implications, and the potential implications for neurocognitive and/or neuropsychiatric functioning were inconclusive. Case Presentation: we present a case of a 26-year-old Chinese postpartum woman who presented to the emergency department with a 19-h history of cognitive decline, vomiting, and convulsions. Blood pressure, heart rate, and respiration rate were 200/120 mmHg, 115 beats/minute, and 30 breaths/minute, respectively, on arrival. The Glasgow Coma Scale, modified RANKIN scale (mRS), and National Institute of Health stroke scale (NIHSS) scores were 3, 5, and 18, respectively. Moyamoya disease was diagnosed using cerebral angiography and digital subtraction angiography. The cognitive functions of orientation, use of language, ability to calculate, and memory significantly improved after 11 days of treatment (Glasgow Coma Scale: 15; mRS: 0; NIHSS: 0). Conclusions:This patient was diagnosed with reversible posterior leukoencephalopathy syndrome related to moyamoya disease. This case highlights that atypical posterior reversible encephalopathy syndrome can occur in patients with moyamoya disease, and should be considered for the differential diagnosis of cerebral infarcts and hemorrhage in a postpartum female.
A Rare T2-T3 Synovial Facet Cyst Causing Progressive Myelopathy
Authors: Mohamed F Albana, Sean Z Griffiths, Kris E Radcliff
Journal: Case Rep Orthop (2021)
MeSH terms: Case Reports

Intraspinal extradural synovial cysts are a rare occurrence at the spinal cord level and thus a rare cause of myelopathy. Synovial cysts usually present in the more mobile lumbar and cervical parts of the spine; however, they may also arise in the thoracic spine. We present a case of a 59-year-old male with a left upper thoracic synovial cyst at T2-3 causing disabling, progressive myelopathy, and an incomplete spinal cord injury syndrome with inability to ambulate. An urgent decompressive laminectomy with bilateral facetectomies, cyst excision, and posterior fusion was performed. Subsequently, the patient recovered full function. Synovial cysts should be considered in the differential diagnosis of progressive thoracic myelopathy. This is only the sixth reported case of a synovial cyst of this kind occurring between the levels of T1 and T7. Urgent surgical decompression is the recommended treatment.
Clival Chondrosarcoma Associated With an Intra-Axial Cystic Medullary Lesion Responsive to Steroids
Authors: Johannes Walter, Sandra Kapitza, Niklaus Krayenbühl, Alexander A Tarnutzer
Journal: Front Neurol (2018)
Keywords: brainstem, chondrosarcoma, clivus, dexamethasone, inflammation, medulla oblongata, surgery
MeSH terms: Case Reports

Introduction: Here we present a 75-year-old patient who was admitted with acute-onset right-sided hemiparesis, dysphagia, dysarthria and nystagmus. Repeated MRI scans showed two lesions with contact to one another: one solid stationary extra-axial lesion at the caudal part of the clivus and a rapidly growing intra-axial cystic lesion at the level of the medulla oblongata. Biopsy of the solid lesion demonstrated a low-grade chondrosarcoma, while no tissue sample of the cystic lesion could be retrieved. After initiation of dexamethasone therapy the cystic lesion markedly regressed. Background: A literature search on published cases with the same combination of a stationary solid extra-axial mass at the caudal part of the clivus and a growing intra-axial cystic mass in the medulla oblongata was negative, indicating that the case described here is both unique and novel. Discussion: Considering the rapid progression of symptoms and growth on MR-imaging in combination with the marked response to steroids, an inflammatory response linked to the chondrosarcoma is most likely. At the same time other possible explanations as a second neoplasm, an abscess or an ischemic lesion seem unlikely. Concluding remarks: This case underlines an unusual complication of a rare brainstem tumor and outlines both the differential diagnosis and potential treatment options. For such cystic lesions in combination with chondrosarcoma, a treatment course with steroids should be considered along with surgical exploration necessary to obtain the diagnosis and for potential reduction of mass-effect on the medulla oblongata.
Pasteurella canis Isolation following Penetrating Eye Injury: A Case Report
Authors: Noor-Khairul Rashid, Zarifah Zam, Siti-Suraya Mdnoor, Ishak Siti-Raihan, Yaakub Azhany
Journal: Case Rep Ophthalmol Med (2012)
MeSH terms: Case Reports

A 3-year-old boy presented with history of trauma to the left eye after he accidentally injured his eye with a broom stick made up from coconut skewers. There was history of cats as their pets but not dogs. Ocular examination revealed left superonasal conjunctival laceration and scleral perforation with prolapsed vitreous. Fundus examination showed minimal vitreous haemorrhage and flat retina. Conjunctiva swab at the wound site was sent for gram staining, culture, and sensitivity. He underwent scleral suturing, vitreous tap, and intravitreal injection of Ceftazidime and Amikacin. Vitreous tap was sent for gram stained, culture and sensitivity. Postoperatively, he was started empirically on IV Ciprofloxacin 160 mg BD, Guttae Ciprofloxacin, and Guttae Ceftazidime. Conjunctiva swab grew Pasteurella canis which was sensitive to all Beta lactams, Ciprofloxacin, Chloramphenicol, and Aminoglycoside. Post-operative was uneventful, absent signs of endophthalmitis or orbital cellulitis.
Posterior Reversible Encephalopathy Syndrome (PRES) in a Patient with Opioid Use Disorder
Authors: Terence Tumenta, Samuel Adeyemo, Oluwatoyin Oladeji, Oluwole Jegede, Bordes Laurent, Tolu Olupona
Journal: Case Rep Psychiatry (2021)
MeSH terms: Case Reports

Posterior Reversible Encephalopathy Syndrome (PRES) is a characteristic clinical radiographic syndrome with diffuse structural alteration of cerebral white matter secondary to myelin damage with diverse and multifactorial etiologies. It can present with acutely altered mentation, somnolence or occasionally stupor, vision impairment, seizures, and sudden or chronic headaches that are not focal. The pathophysiology remains unclear, but mechanisms involving endothelial injury and dysregulation of cerebral autoregulation have been purported. We report the case of a 36-year-old male with a history of heroin use disorder, who was admitted to our hospital for opioid withdrawal. CT head without contrast and MRI with and without gadolinium showed significant white matter disease in both cerebral hemispheres and cerebellum. He was diagnosed with Posterior Reversible Encephalopathy Syndrome secondary to heroin use and managed on the medical floor in collaboration with the neurology team. His clinical symptoms improved and he was discharged after six weeks. To our knowledge, this case did not present with the risk factors for PRES reported in the literature. For patients with heroin use disorder who present with an altered mental status, PRES should be highly suspected. The diagnosis and management require collaboration between psychiatry and neurology.