OpenMed/multicare-articles huggingface dataset:
Scurvy: Forgotten diagnosis, but still exist
Authors: Faisal Miraj, Ali Abdullah
Journal: Int J Surg Case Rep (2020)
Keywords: clinical and radiological appearance, scurvy, vitamin c administration
MeSH terms: Case Reports

Introduction:
Scurvy is a rare condition in pediatric patients, resulted from a vitamin C deficiency. Musculoskeletal symptoms occur in 80% of patient. The rarity and the polymorphisms of the clinical signs and symptoms often make scurvy an unknown or forgotten diagnosis.
Methods:
A 3-years-old boy with limping gait, progressive pain and swelling on his left lower limb since 3 months prior was diagnosed as osteomyelitis based on MRI. When there was no improvement after 2 weeks of IV antibiotic administration, we did surgical debridement procedure. Intraoperative, we found extensive blood clot inside and in the entire periosteum instead of infection. One week after surgery, there was still no improvement clinically and radiographically. Histopathology result suggested a fibro-osseous tumor. After reviewing clinical sign including skin presentation and plain radiology, we suspected scurvy disease in this patient and started a vitamin C therapy course immediately.
Results:
Two weeks after we started vitamin C treatment, the patient's condition was significantly improved clinically and radiographically. Serial radiograph was taken after 2 and 12 months of surgery, and it showed significant improvement on the site where the previous pathological process appeared.
Discussions:
Because of the extremely rare occurrence of scurvy in modern society at present, it is difficult to differentiate it from other diseases such as infection. The diagnosis of scurvy is made by careful studies from history taking, physical examination, laboratory and especially radiological finding that show pathognomonic appearance. Examination of vitamin C level serum is a gold standard, but unfortunately not available in our country. Improvement after vitamin C administration also established that condition.
Conclusion:
Scurvy should have established by clinical and radiological findings that show pathognomonic signs around joint, even without supported by vitamin C serum.
Vancomycin resistant enterococcus bacteremia in a patient with Pneumocystis jiroveci pneumonia, granulocystic sarcoma and acute respiratory distress syndrome
Authors: Julide Celdir Emre, Aysegul Baysak, Adnan Tolga Oz, Gulfem Ece, Bilgin Arda, Feza Bacakoglu
Journal: Pan Afr Med J (2014)
Keywords: (vre), granulocystic sarcoma, pneumocystis jiroveci pneumoniae, vancomycin resistant enterococci
MeSH terms: Bacteremia / complications, Pneumocystis carinii / isolation & purification, Pneumonia, Pneumocystis / complications, Respiratory Distress Syndrome / complications, Sarcoma, Myeloid / complications, Vancomycin-Resistant Enterococci / isolation & purification, Case Reports, Bacteremia / microbiology, Enterococcus faecium, Gram-Positive Bacterial Infections / complications, Humans, Immunocompromised Host, Male, Pneumonia, Pneumocystis / microbiology, Respiratory Distress Syndrome / microbiology, Sarcoma, Myeloid / microbiology, Young Adult

In this case report we aimed to present a patient with granulocytic sarcomaa, neutropenic fever, ARDS and Pneumocystis jirovecii pneumoniae that was hospitalized in our intensive care unit. The patient recovered and then developed vancomycin resistant enterococci (VRE) bacteremia due to port catheter during follow up. The patient had risk factors for VRE bacteremia and he was administered linezolide without removing the catheter. He was discharged with recovery.
Bacteremia in a Newborn with Hypocalcemic Seizures and Vitamin D Deficiency
Authors: Rebecca L Moore, Matthew L Lorenz, Meghan E Fredette, Lisa Swartz Topor
Journal: Case Rep Endocrinol (2021)
MeSH terms: Case Reports

Infants with neonatal hypocalcemia often present with seizures, and neonatal hypocalcemia can be due to parathyroid (PTH) insufficiency or resistance. Causes of hypocalcemia with PTH elevation include increased phosphate load, vitamin D deficiency (VDD) or defects in metabolism, renal dysfunction, hypomagnesemia, genetic mutations resulting in end-organ resistance to PTH, or critical illness. Hypocalcemia has also been shown to be associated with Gram-negative bacteremia and sepsis in adults. We present the case of a full-term, formula-fed newborn presenting with late-onset hypocalcemic seizures and VDD in the setting of Klebsiella pneumoniae bacteremia. This case highlights that newborns presenting with hypocalcemic seizures should undergo a workup for sepsis.
Case Report on Deep Brain Stimulation Rescue After Suboptimal MR-Guided Focused Ultrasound Thalamotomy for Essential Tremor: A Tractography-Based Investigation
Authors: Sabir Saluja, Daniel A N Barbosa, Jonathon J Parker, Yuhao Huang, Michael R Jensen, Vyvian Ngo, Veronica E Santini, Kim Butts Pauly, Pejman Ghanouni, Jennifer A McNab, Casey H Halpern
Journal: Front Hum Neurosci (2020)
Keywords: mri, deep brain stimulation, essential tremor, focused ultrasound, thalamus, tractography

Essential tremor (ET) is the most prevalent movement disorder in adults, and can often be medically refractory, requiring surgical intervention. MRI-guided focused ultrasound (MRgFUS) is a less invasive procedure that uses ultrasonic waves to induce lesions in the ventralis intermedius nucleus (VIM) to treat refractory ET. As with all procedures for treating ET, optimal targeting during MRgFUS is essential for efficacy and durability. Various studies have reported cases of tremor recurrence following MRgFUS and long-term outcome data is limited to 3-4 years. We present a tractography-based investigation on a case of DBS rescue for medically refractory ET that was treated with MRgFUS that was interrupted due to the development of dysarthria during the procedure. After initial improvement, her hand tremor started to recur within 6 months after treatment, and bilateral DBS was performed targeting the VIM 24 months after MRgFUS. DBS induced long-term tremor control with monopolar stimulation. Diffusion MRI tractography was used to reconstruct the dentatorubrothalamic (DRTT) and corticothalmic (CTT) tracts being modulated by the procedures to understand the variability in efficacy between MRgFUS and DBS in treating ET in our patient. By comparing the MRgFUS lesion and DBS volume of activated tissue (VAT), we found that the MRgFUS lesion was located ventromedially to the VAT, and was less than 10% of the size of the VAT. While the lesion encompassed the same proportion of DRTT streamlines, it encompassed fewer CTT streamlines than the VAT. Our findings indicate the need for further investigation of targeting the CTT when using neuromodulatory procedures to treat refractory ET for more permanent tremor relief.
Primary hepatic carcinoid tumor: a case report and review of the literature
Authors: Chih-Wen Lin, Chung-Hsu Lai, Chia-Chang Hsu, Chao-Tien Hsu, Pei-Min Hsieh, Kuo-Chen Hung, Yaw-Sen Chen
Journal: Cases J (2009)

Background:
Primary hepatic carcinoid tumor (PHCT) is very rare and difficult to diagnose before biopsy or operation. We report a patient with a small PHCT and review cases in the literature.
Case presentation:
A 48-year-old Chinese female with underlying hepatitis B virus (HBV) infection was found to have a low echoic hepatic nodule by abdominal ultrasound. Tumor markers were negative. Dynamic liver computed tomography scans showed enhancement of the nodule in the arterial phase and early washout in the portal phase. Hepatocellular carcinoma (HCC) was considered based on the image findings and underlying HBV infection. However, the tumor biopsy revealed a malignant neoplasm that originating from neuroendocrine cells. Pre-operative and intra-operative investigations for the possible other origin of carcinoid tumor were negative, so PHCT was confirmed.
Conclusion:
A small and asymptomatic PHCT is extremely rare. PHCT should be one of the differential diagnoses in patients with small hepatic tumor, even in regions with high prevalence of HBV infection and HCC. Pre-operative biopsy is necessary to avoid misdiagnosis even when HCC is highly suspected clinically.
Pyogenic Liver Abscess, Bacteremia, and Meningitis with Hypermucoviscous Klebsiella pneumoniae: An Unusual Case Report in a Human T-Cell Lymphotropic Virus Positive Patient of Caribbean Origin in the United States
Authors: Gargi Patel, Neha Shah, Roopali Sharma
Journal: Case Rep Infect Dis (2013)

Pyogenic liver abscess (PLA) is a potentially fatal disease. Klebsiella pneumoniae (K. pneumoniae) has replaced Escherichia coli (E. coli) as the predominant causative organism for pyogenic liver abscess. Over the years a unique form of community-acquired invasive K. pneumoniae infection of the liver has been well described in Southeast Asia. This has recently been linked to a virulent hypermucoviscous K. pneumoniae phenotype and to a specific genotype, rmpA positive. To our knowledge, we report the first case of PLA with bacteremia and meningitis in a Guyanese patient with the presence of rmpA-positive K. pneumoniae with laboratory evidence in North America.
The Efficacy of Combined Cisplatin and Nanoparticle Albumin-Bound Paclitaxel in a Stage IV Pancreatic Squamous Cell Carcinoma Patient With a Somatic BRCA2 Mutation: A Case Report
Authors: Xiaozhun Huang, Chunling Wang, Teng Ma, Zhangkan Huang, Houhong Zhou, Lin Xu, Renjie Zhang, Jianjun Zhao, Yefan Zhang, Zhen Huang, Lin Shao, Yang Wang, Fan Yang, Xu Che
Journal: Front Oncol (2021)
Keywords: brca2 mutation, cisplatin, nanoparticle albumin-bound paclitaxel, overall survival, pancreatic squamous cell carcinoma
MeSH terms: Case Reports

Pancreatic squamous cell carcinoma (SCC) is a rare primary pancreatic malignancy with a poor prognosis. The median overall survival (OS) for metastatic setting is only 4 months and the optimal management remains poorly defined. In the present study, we report a 52-year-old female patient with stage IV primary SCC of the pancreas harboring a deleteous BRCA2 somatic mutation. After 10 cycles of chemotherapy of cisplatin combined with nanoparticle albumin-bound paclitaxel, metastatic lesions in the liver and lymph nodes achieved radiographic complete responses and pancreatic lesion shrank from 5.7 to 1.5 cm in diameter. The patient subsequently underwent a posterior radical antegrade modular pancreatosplenectomy with R0 resection and residual liver lesions were also resected. After 3 months, a tumor relapsed in the liver. She was then treated with olaparib combined with pembrolizumab and achieved stable disease on the liver lesion. The patient eventually died from cerebral hemorrhage with a long OS of 21 months. Our case demonstrated a favorable clinical activity and survival advantage of the combined cisplatin and nanoparticle albumin-bound paclitaxel, which might serve as a therapeutic option for the patient with BRCA-mutant pancreatic SCC.
A 7-Year History of Necrobiotic Xanthogranuloma following Asymptomatic Multiple Myeloma: A Case Report
Authors: Siriluk Inthasotti, Rungsima Wanitphakdeedecha, Jane Manonukul
Journal: Dermatol Res Pract (2011)
MeSH terms: Case Reports

Necrobiotic xanthogranuloma (NXG) is a rare destructive xanthomatous granuloma with chronic, indolent, and progressive course. The morbidity and mortality are the results from wound complications and associated disorders. Because of its strong association with monoclonal gammopathy and multiple myeloma, early recognition of disease is mandatory to monitor and prevent systemic involvements of hematologic malignancies.
Vertebrobasilar circulation hemorrhages in childhood primary angiitis of the central nervous system
Authors: Ahmad Hassan, Kieren Allinson
Journal: Autops Case Rep (2022)
Keywords: autopsy, brain death, diagnosis, hemorrhagic stroke, mortality, vasculitis, central nervous system
MeSH terms: Case Reports

Childhood primary angiitis of the CNS (cPACNS) is a poorly understood, rare, and diagnostically challenging neurologic disease. We describe an unusual and autopsy-confirmed case of cPACNS presenting as vertebrobasilar circulation hemorrhagic strokes in a 4-year-old girl. The presentation and clinical features were inconsistent with primary CNS vasculitis and skewed the diagnosis. Autopsy and histopathological analyses revealed a progressive lymphocytic vasculitis affecting the medium to large vessels of vertebrobasilar circulation and sparing the anterior circulation. It is imperative to raise the index of suspicion for cPACNS in any case of unusual or unexplained neurological presentation, especially in the absence of cerebrovascular risk factors and/or coagulation disorders.
Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review
Authors: Jie Hu, Zhishuo Ou, Elena Infante, Sally J Kochmar, Suneeta Madan-Khetarpal, Lori Hoffner, Shafagh Parsazad, Urvashi Surti
Journal: Mol Cytogenet (2017)
Keywords: 12q1313 microdeletion/microduplication, array cgh, hoxc, sp1, spt7
MeSH terms: Case Reports

Background:
Duplications or deletions in the 12q13.13 region are rare. Only scattered cases with duplications and/or deletions in this region have been reported in the literature or in online databases. Owing to the limited number of patients with genomic alteration within this region and lack of systematic analysis of these patients, the common clinical manifestation of these patients has remained elusive.
Case presentation:
Here we report an 802 kb duplication in the 12q13.13q13.13 region in a 14 year-old male who presented with dysmorphic features, developmental delay (DD), mild intellectual disability (ID) and mild deformity of digits. Comparing the phenotype of our patient with those of reported patients, we find that patients with the 12q13.13 duplication or the deletion share similar phenotypes, including dysmorphic facies, abnormal nails, intellectual disability, and deformity of digits or limbs. However, patients with the deletion appear to have more severe deformity of digits or limbs.
Conclusions:
Deletion and duplication of the 12q13.13 region may represent novel contiguous gene alteration syndromes. All seven reported 12q13.13 deletions and three of four duplications are de novo and vary in size. Therefore, these genomic alterations are not due to non-allelic homologous recombination.
A Rare Case of Isolated Ureteral Diaphragmatic Herniation: Case Report and Review of Literature
Authors: Nassib Abou Heidar, Hussein Elsemesmani, Ahmad Elamine, Mustafa Natout
Journal: Case Rep Urol (2019)
MeSH terms: Case Reports

Diaphragmatic ureteral hernias are rare causes of ipsilateral renal obstruction. Management strategies varies from conservative to ureteral stenting to operative herniorraphy and reduction. We present a case of a 71-year-old man who was found to have an incidental right ureteral diaphragmatic herniation causing an asymptomatic kidney obstruction. He was managed conservatively with no evidence of increased hydronephrosis on serial imaging and no deterioration of biochemical renal function. We review all similar cases published in the literature and discuss the optimal treatment strategies.
Successful clinical management of mesenteric ischemia caused by superior mesenteric artery obstruction and celiac artery stenosis: a case report
Authors: Majed Mazen Fakeeh, Leena Hatem Moshref
Journal: Pan Afr Med J (2023)
Keywords: mesenteric ischemia, case report, laparotomy, stents
MeSH terms: Mesenteric Ischemia / etiology, Mesenteric Ischemia / therapy, Mesenteric Vascular Occlusion / etiology, Mesenteric Vascular Occlusion / surgery, Case Reports, Aged, Celiac Artery / diagnostic imaging, Constriction, Pathologic, Humans, Ischemia / etiology, Male, Mesenteric Artery, Superior / diagnostic imaging, Mesenteric Artery, Superior / surgery, Stents / adverse effects, Treatment Outcome

Acute mesenteric ischemia (AMI) is a rare, yet deadly thromboembolic accident that requires urgent surgery and or revascularization. We report the case of a 67-year-old male patient, who presented with severe abdominal pain and reduced oral intake, causing dehydration and impaired kidney function. The imaging evaluation including arterial Doppler and computed tomography (CT) scan showed AMI caused by superior mesenteric artery (SMA) obstruction and celiac artery stenosis, besides multiple atherosclerotic segments. Given the absence of guidelines in such an uncommon combination, a multidisciplinary management was initiated involving general medicine, general surgery, vascular surgery, and radiology. The agreed plan consisted of anticoagulation, exploratory laparotomy with necrosis resection and anastomosis, followed by percutaneous thrombectomy and angioplasty with stenting. The patient was discharged on day 7 postop with a highly satisfactory outcome and follow up. This case highlights the value of an early multidisciplinary approach in tailoring the management to the specific case of AMI.
New-Onset Crohn's Disease following Initiation of Secukinumab: A Case Report and Review of the Role of IL-17 in the Pathogenesis of Crohn's Disease
Authors: Anas Khouri, Cesar Moreno, Benjamin Niland
Journal: Case Rep Gastrointest Med (2023)
MeSH terms: Case Reports

Patients with autoimmune conditions show a high expression of proinflammatory cytokines including interleukin (IL)-17. While IL-17 inhibitors have demonstrated efficacy in managing autoimmune disorders, rare instances of de novo or exacerbated inflammatory bowel disease (IBD) have been reported. The factors that affect the onset and severity remain unclear. Here, we present a case of a 38-year-old female who developed manifestations of Crohn's disease within 1 month of initiating secukinumab treatment for psoriatic arthritis, in addition to a review of the role of IL-17 in the pathophysiology of Crohn's disease.
Candida auris Sternal Osteomyelitis in a Man from Kenya Visiting Australia, 2015
Authors: Christopher H Heath, John R Dyer, Stanley Pang, Geoffrey W Coombs, Dianne J Gardam
Journal: Emerg Infect Dis (2019)
Keywords: australia, candida auris, erg11, kenya, maldi-tof ms, south africa clade iii, antimicrobial resistance, bone, cardiorespiratory failure, multidrug resistant, sternal osteomyelitis, whole-genome sequencing, yeast
MeSH terms: Antifungal Agents / administration & dosage, Candida / isolation & purification, Candidiasis / diagnostic imaging, Osteomyelitis / diagnostic imaging, Triazoles / administration & dosage, Case Reports, Aged, Australia, Bone and Bones / diagnostic imaging, Bone and Bones / microbiology, Candidiasis / drug therapy, Candidiasis / microbiology, Chronic Disease, Fatal Outcome, Humans, Kenya, Male, Osteomyelitis / drug therapy, Osteomyelitis / microbiology, Tomography, X-Ray Computed, Travel, Whole Genome Sequencing, Antifungal Agents, Triazoles, posaconazole

In Australia in 2015, Candida auris sternal osteomyelitis was diagnosed in a 65-year-old man with a history of intensive care treatment in Kenya in 2012 and without a history of cardiac surgery. The isolate was South Africa clade III. Clinicians should note that C. auris can cause low-grade disease years after colonization.
Paediatric Erdheim-Chester Disease in the Lateral Ventricle: A Case Report and Review of the Literature
Authors: Yimei Ma, Xia Guo, Zhi Wan, Hanmin Liu, Ju Gao
Journal: Front Oncol (2022)
Keywords: brafv600e, cd1a, cd68, erdheim chester disease, lateral ventricle

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis caused by the expression of CD68-positive and CD1a-negative foam tissue cells, which is polar in pediatric patients. The study reports a case of an 8-year-old Chinese boy who presented with polydipsia and polyuria for 4 years, followed by central nervous system symptoms. Magnetic resonance imaging (MRI) showed a large lesion in the lateral ventricle. The histiocytes stained positively for CD68, CD163 and negatively for CD1a, glial fibrillary acidic protein (GFAP) and langerin, and were partially positive for S100 by immunohistochemical assay. More importantly, BRAFV 600E staining was positive in tissue, and the BRAF V600E mutations was also detected by real-time quantitative PCR (RT-qPCR) in the intracranial lesion tissue. According to our review of the literature, this is a rare case of ECD in the ventricle, with a younger age.
CNS intravascular lymphoma: a case report
Authors: Amer Awad, Bachir Estephan, Olaf Stüve
Journal: Case Rep Neurol Med (2011)
MeSH terms: Case Reports

Intravascular lymphoma is a rare but well-described entity. The clinical manifestations are heterogeneous. We report a case of a 59-year-old woman who presented initially with syncope followed by subacute cognitive decline that progressed to minimally conscious state. Shortly after the transfer to our tertiary center the patient died. Brain autopsy disclosed the diagnosis of B-cell intravascular lymphoma. We speculate that syncope could be the first manifestation of central nervous system intravascular lymphoma and should be considered in the differential diagnosis of unexplained syncope. In addition, we stress the importance of early brain biopsy in unexplained white matter disease.
Assessing the causes of under-five mortality and proportion associated with pneumococcal diseases in Cameroon. A case-finding retrospective observational study: 2006-2012
Authors: John Njuma Libwea, Sandrine Rachel Bebey Kingue, Nadesh Taku Ashukem, Marie Kobela, Angeline Boula, Koulla-Shiro Sinata, Paul Koki Ndombo
Journal: PLoS One (2019)
MeSH terms: Child Mortality, Pneumococcal Infections / mortality, Observational Study, Randomized Controlled Trial, Cameroon / epidemiology, Cause of Death, Child, Preschool, Female, Humans, Infant, Malaria / mortality, Malaria / prevention & control, Male, Pneumococcal Infections / prevention & control

Background:
Vital registration data outlining causes of deaths (CoD) are important for a sustainable health system, targeted interventions and other relevant policies. There is data paucity on vital registration systems in developing countries. We assessed the leading causes and proportions of under-five deaths, and particularly those related to pneumococcal infections in Yaoundé, Cameroon, using hospital registration data.
Methods:
A retrospective case-finding observational study design was used to access and identify data on 817 death cases in children under-five years of age recorded in health facilities in Yaoundé, within the period January 1, 2006 and December 31, 2012. Patients' files were randomly selected and needed information including demographic data, date of admission, clinical and laboratory diagnosis, principal and/or underlying causes of death were abstracted into structured case report forms. The International Classification of Diseases and Clinical Modifications 10th revision (ICD-10-CM) codes (ICD10Data.com 2017 edition) were used to classify the different CoD, retrospectively. Ascertainment of CoD was based on medical report and estimates were done using the Kaplan-Meier procedure and descriptive statistics.
Results:
Of the 817 death records assessed, malaria was the leading CoD and was responsible for 17.5% of cases. Meningitis was the second largest CoD with 11.0%; followed by sepsis (10.0%), Streptococcus pneumoniae infections (8.3%), malnutrition (8.3%), gastro-enteritis / diarrhoea (6.2%), anaemia (6.1%) and HIV (3.5%), respectively.
Conclusion:
The main CoD in this population are either treatable or vaccine-preventable; a trend consistent with previous reports across developing countries. Besides, the health effects from non-communicable infections should not be neglected. Therefore, scaling-up measures to reduce causes of under-five deaths will demand sustainable efforts to enhance both treatment and disease prevention strategies, to avoid a decline in the progress towards reducing under-five deaths by 2/3 from the 1990 baseline.