OpenMed/multicare-articles huggingface dataset:
Blunt Thoracic Trauma-Induced Mitral Papillary Muscle Avulsion with Pericardial Rupture and Cardiac Herniation: Difficult and Delayed Diagnoses
Authors: Ross McCauley, Faisal Shariff, Michael Steinberg, Thomas B Bemenderfer, Patrick Davis, Mark Thompson, Christopher Lesh, Mark Walsh, Edward Evans
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

Blunt thoracic trauma (BTT) and the resultant isolated mitral papillary muscle avulsion, pericardial rupture, and cardiac herniation injuries are each rarely diagnosed clinical entities. We describe the first case of combined pericardial tear with cardiac herniation and ruptured mitral papillary muscles following BTT. Preoperative transesophageal echocardiography (TEE) diagnosed the delayed mitral papillary muscle rupture while all previous diagnostic modalities failed to delineate the pericardial rupture and cardiac herniation. Particular emphasis is placed on the clinical and radiologic aspects of the case that would heighten clinical suspicion in the emergency setting where blunt cardiac injury sequelae are suspected and frequently missed.
Pancreaticoduodenectomy for an Ampullary Region Carcinoma Occurred in Annular Pancreas Coexistent with Replaced Common Hepatic Artery
Authors: Ryuji Komine, Atsushi Shimizu, Kazuhiko Mori, Keisuke Minamimura, Toru Hirata, Takashi Kobayashi, Nobuo Toda, Masaya Mori
Journal: Case Rep Med (2018)
MeSH terms: Case Reports

Introduction:
Annular pancreas is a rare congenital abnormality characterized by a ring of pancreatic tissue surrounding the descending portion of the duodenum. Annular pancreas coexisting with replaced common hepatic artery which is also a rare anatomical variation has not been reported previously.
Case presentation:
A 53-year-old man visited our hospital complaining of epigastric pain. Based on radiological examinations, he was diagnosed as having pancreatitis, annular pancreas, and hepatomesenteric trunk. One month later, obstructive jaundice developed. Endoscopic examination revealed ampullary region carcinoma. We performed pancreaticoduodenectomy using the "artery-first" approach.
Discussion:
Both annular pancreas and common hepatic artery anomaly are rare. High-quality preoperative imaging and awareness of such rare conditions are necessary for operative safety. Although the embryological relationship between these anomalies is uncertain, the present case may suggest some relevance between the two.
Conclusion:
The "artery-first" approach may be a useful method for pancreaticoduodenectomy in patients who have an anatomical abnormality.
Splenic hematoma mimicking angiosarcoma: a case report
Authors: Seckin Akkucuk, Akin Aydogan, Hasan Gokce, Ramazan Davran, Murat Karcioglu
Journal: Case Rep Oncol Med (2012)

Introduction. Splenic hematomas usually occur after blunt abdominal trauma. Most of the subcapsular hematomas will be resolved and reabsorbed spontaneously. However in rare cases, some of them organize and form calcified splenic masses. Angiosarcoma is an uncommon primary tumor of the spleen. Splenic angiosarcoma behaves extremely aggressive and has poor prognosis. Case Presentation. We report a forty-nine-year-old white male with organized splenic hematoma due to traffic accident mimicking splenic angiosarcoma. Conclusion. Both angiosarcoma and splenic organized hematoma have nonspecific symptoms and clinical findings. Because of the risk of hemorrhage and rupture, fine-needle biopsy should not be preferred. In case of splenic masses, excision and spleen-conserving surgery or total splenectomy should be performed.
A Giant Vulvar Mass: A Case Study of Cellular Angiofibroma
Authors: Ümit Aydın, Hasan Terzi, Ünal Turkay, Ahmet Tuğrul Eruyar, Ahmet Kale
Journal: Case Rep Obstet Gynecol (2016)

Cellular angiofibroma is a mesenchymal tumor that affects both genders. Nucci et al. first described it in 1997. Cellular angiofibroma is generally a small and asymptomatic mass that primarily arises in the vulvar-vaginal region, although rare cases have been reported in the pelvic and extrapelvic regions. It affects women most often during the fifth decade of life. The treatment requires simple local excision due to low local recurrence and no chance of metastasization. The current study presents a case of angiofibroma in the vulvar region that measured approximately 20 cm.
V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I
Authors: Kwo Wei David Ho, Nivedita U Jerath
Journal: Case Rep Genet (2018)
MeSH terms: Case Reports

Hereditary sensory and autonomic neuropathy type I (HSAN I) is an autosomal dominant disease characterized by distal sensory loss, pain insensitivity, and autonomic disturbances. The major underlying causes of HSAN I are point mutations in the SPTLC1 gene. Patients with mutations in the SPTLC1 genes typically exhibit dense sensory loss and incidence of lancinating pain. Although most of these mutations produce sensory loss, it is unclear which mutations would lead to the painful phenotype. In this case series, we report that the V144D mutation in SPTLC1 gene may relate to both painful and painless peripheral neuropathies. The unique clinical phenotype of this mutation may guide clinical workup and treatment for patients with painful and painless neuropathies.
Carcinoma of the colon in an adult with intestinal malrotation
Authors: Michael Donaire, James Mariadason, Daniel Stephens, Sitaram Pillarisetty, Marc K Wallack
Journal: Case Rep Surg (2013)

Colon cancer is the third most common cancer in the USA. Intestinal malrotation diagnosed in adulthood was, until recently, a very rare phenomenon. While patients may present with intestinal obstruction or abdominal pain, the diagnosis is now often made as an incidental finding by computed tomography (CT). Surprisingly we found only seven case reports of carcinoma of the colon in patients with malrotation; CT failed to make the preoperative diagnosis in a majority. Laparoscopic colon surgery is rapidly becoming standard of care for colon cancer. We present a case of carcinoma of the colon in an adult that thwarted attempts at laparoscopic resection due to failure to recognize malrotation preoperatively. The literature is reviewed, and the implications of malrotation in patients with colon cancer are examined.
A Rare Location and Presentation of Pheochromocytoma
Authors: Kevin Kaulanjan, Pascal Blanchet, Laurent Brureau
Journal: J Endourol Case Rep (2018)
Keywords: bladder cancer, laparoscopic robot-assisted surgery, pheochromocytoma, rare tumor, transurethral bladder resection

Background: Pheochromocytomas typically are diagnosed in the adrenal gland and from the sympathetic nervous system. Bladder pheochromocytoma is a rare location for this tumor. Case Presentation: We describe a 67-year-old Afro Caribbean woman referred to our hospital for an asymptomatic bladder tumor. Preliminary transurethral resection revealed bladder pheochromocytoma. After a comprehensive endocrine evaluation, we performed a robot-assisted laparoscopic partial cystectomy with ureteral reimplantation. Conclusion: We present a rare case of bladder pheochromocytoma treated effectively with minimally invasive techniques. When confronted with a solid bladder mass, apart from the more common urothelial malignancies, a differential diagnosis of bladder pheochromocytoma should also be considered.
False Positive Tramadol Urine Testing in Patients Taking Fexofenadine: A Tale of Two Consecutive Cases
Authors: Suhair Mohammed Yousuf, Ahmad Maaen Alater, Majid Alabdulla, Mugtaba Osman
Journal: Case Rep Psychiatry (2023)
MeSH terms: Case Reports

Urine drug screen immunoassays have been widely used as point-of-care testing for detection of various drug classes in substance use disorders. However, these immunoassays frequently result in false positive results. We report two patients that used 180 mg daily dose of fexofenadine hydrochloride for treatment of skin allergy and, falsely, tested positive for use of tramadol during urine drug screening. We recommend caution when interpreting positive tramadol urine screening among patients on fexofenadine treatment.
Early and definitive diagnosis of toxic shock syndrome by detection of marked expansion of T-cell-receptor VBeta2-positive T cells
Authors: Yoshio Matsuda, Hidehito Kato, Ritsuko Yamada, Hiroya Okano, Hiroaki Ohta, Ken'ichi Imanishi, Ken Kikuchi, Kyouichi Totsuka, Takehiko Uchiyama
Journal: Emerg Infect Dis (2003)
MeSH terms: Bacterial Toxins, Enterotoxins / blood, Puerperal Infection / diagnosis, Shock, Septic / diagnosis, Superantigens, Case Reports, Adult, Female, Humans, Puerperal Infection / microbiology, Bacterial Toxins, Enterotoxins, Superantigens, enterotoxin F, Staphylococcal

We describe two cases of early toxic shock syndrome, caused by the superantigen produced from methicillin-resistant Staphylococcus aureus and diagnosed on the basis of an expansion of T-cell-receptor VBeta2-positive T cells. One case-patient showed atypical symptoms. Our results indicate that diagnostic systems incorporating laboratory techniques are essential for rapid, definitive diagnosis of toxic shock syndrome.
Cardiac Murmur in a Boy with Normal Paternal Prenatal Carrier Screening for Pompe Disease
Authors: Allison M Jay, Premchand Anne, David Stockton
Journal: Case Rep Pediatr (2019)
MeSH terms: Case Reports

Introduction:
Pompe disease is an autosomal recessive lysosomal storage disorder with marked morbidity and mortality, if untreated. With the advent of enzyme replacement therapy, it is essential to identify the infantile-type as early as possible to mitigate the effects of the enzyme deficiency. Identification is possible prenatally with testing of both parents. More recently, many states have instituted newborn screening for this condition.
Case:
We report a patient with infantile-onset Pompe disease with a normal paternal carrier genetic test, born prior to newborn screening for Pompe disease in the state of Michigan. The infant's father was retested once the infant was diagnosed with Pompe disease postnatally and noted to have a mutation conducive to Pompe disease.
Conclusion:
Providers should have a strong clinical suspicion for disorders even if prenatal parental carrier screening is normal. A normal parental prenatal test does not exclude the possibility that the fetus may be diagnosed with a disorder postnatally, and pediatricians may be faced with limitations in accuracy of parents' recollection of parental testing results.
A rare case of schizophrenia coexistence with antiphospholipid syndrome, β-thalassemia, and monoclonal gammopathy of undetermined significance
Authors: Yingming Jin, Yiquan Cheng, Jifeng Mi, Jianfen Xu
Journal: Front Psychiatry (2023)
Keywords: mgus, antiphospholipid syndrome, chlorpromazine, lupus anticoagulant, schizophrenia, β-thalassemia
MeSH terms: Case Reports

A patient with schizophrenia who was treated with chlorpromazine developed lupus anticoagulant (LA) and antiphospholipid syndrome (APS). On protein electrophoresis, a monoclonal immunoglobulin A peak was seen in this patient, defining a condition of monoclonal gammopathy of undetermined significance. Additionally, β-thalassemia was diagnosed with the CD41-42 genotype. This condition is extremely rare, particularly in patients with schizophrenia and APS. We present a case of a patient with schizophrenia and secondary APS who had a positive LA, a significantly prolonged activated partial thromboplastin time, endogenous coagulation factor deficiency and inhibitor, no bleeding, and an unexpected finding of β-thalassemia and monoclonal IgA. Following that, a literature review on the disorders was presented.
Acute Influenza Encephalitis/Encephalopathy Associated with Influenza A in an Incompetent Adult
Authors: Angela Edet, Katherine Ku, Irene Guzman, Hanadi Abou Dargham
Journal: Case Rep Crit Care (2020)
MeSH terms: Case Reports

A 32-year-old male presented to the emergency department (ED) with a productive cough for 4 days and confusion for 2 days prior to presentation. He was febrile, tachycardic, and hypotensive. Initially, labs and influenza A/B PCR were performed. An elevated WBC of 17.3 and a lactate level of 3.1 were noted. He was given a bolus of normal saline and broad spectrum antibiotics, ceftriaxone and azithromycin. The patient was then subsequently found to be positive for influenza A via rapid antigen testing of the nares. On hospital day 2, the patient's mental status and respiratory distress worsened requiring intubation with mechanical ventilation. CT of the head without contrast revealed symmetric areas of hypoattenuation in the frontoparietal deep white matter. Lumbar puncture showed a slight elevation in WBCs and mild lymphocytic pleocytosis. Brain MRI without contrast revealed symmetric hyperintense T2 FLAIR signaling in the periventricular white matter and the splenium of the corpus callosum. He was found to have encephalitis secondary to influenza A and was started on a course of oseltamivir at higher doses of 150 mg BID for 2 weeks. On hospital day 10, after nine days of intubation, the patient received a tracheostomy due to failure to extubate and no improvement in mental status. He remained ventilator-dependent with little improvement in mental status; the patient was transferred to a long-term acute care hospital (LTACH) facility for further specialized care. He did not show any neurologic recovery or improvement in the three months after initial presentation of symptoms. In the fifth month after the initial symptoms, there was no recovery of preinsult neurologic function. The family had a palliative care meeting to discuss the plan and goals of care. It was decided by close family members that "compassionate extubation" would be done due to ongoing stress on the patient's body physically and neurologically. This case illustrates the importance of prompt identification and treatment of influenza in the prevention of rapidly progressive sequelae.
Chronic Pulmonary Histoplasmosis Identified in a Young Patient with Selective Immunoglobulin M Deficiency
Authors: Ania Preneta, Khaled M Nada, Asima Raja, Moiz Kasubhai
Journal: Case Rep Infect Dis (2018)
MeSH terms: Case Reports

Chronic histoplasmosis is typically diagnosed in patients who are immunocompromised or severely debilitated and who either live in or who have travelled to endemic areas. We report the case of a young, otherwise immunocompetent male patient who presented to a New York hospital with lobar consolidation and was found to have chronic pulmonary histoplasmosis. He described no history of travel to an endemic area. Immunological workup later revealed selective immunoglobulin M (IgM) deficiency. The literature has suggested a link between IgM deficiency and fungal infections. Recent research has also proposed a link between autoimmunity and IgM deficiency. Our clinical vignette describes the case of a patient with selective IgM deficiency who was diagnosed with pulmonary histoplasmosis without any clinical evidence of autoimmune disease.
CT imaging of a rare case of persistent fifth aortic arch in newborn
Authors: Nicolò Schicchi, Giacomo Agliata, Andrea Giovagnoni
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Congenital persistence of the fifth aortic arch is an unusual, often misdiagnosed and underestimated pathological finding. It is usually associated with other cardiac or vascular anomalies, which makes every case quite unique in its clinical presentation and treatment. Our subject was a newborn (1-month-old male) who was referred to our hospital from a peripheral centre owing to difficulty in obtaining a clear diagnosis with traditional means (echocardiography). He presented with Type II left-sided malformation (atresia or interruption of the superior arch with patent inferior arch) and also showed an associated atrial septal defect with left-to-right-shunt. The investigation was carried out with a contrast-enhanced CT scan owing to the serious clinical condition (haemodynamic instability) of the subject that made an MRI examination too hazardous. The study succeeded in plainly depicting the malformation, providing a clear diagnosis and also giving the surgeons (especially with the assistance of three-dimensional volume rendering reconstruction) an accurate anatomical model, which played a crucial role in planning the operation. The ability of a multislice CT scan to rapidly perform a full, panoramic and minimally invasive study of the cardiovascular system is clearly demonstrated in this study. The only downside of this procedure is the use of ionizing radiation on a newborn, although it is justified in this case by the emergent need for a quick diagnosis. Furthermore, a CT scan is characterized by a higher spatial resolution compared with an MRI and for vascular anomalies, a CT scan is often preferred. An MRI is mainly used in case of functional imaging. Exactly for this reason, we planned the procedure in order to maintain the equivalent radiation dose as low as possible [equivalent dose (H) ≤ 1 mSV].
Baastrup's Disease: An Often Missed Etiology for Back Pain
Authors: Lucas R Philipp, Griffin R Baum, Jonathan A Grossberg, Faiz U Ahmad
Journal: Cureus (2016)
Keywords: baastrup's disease, back pain
MeSH terms: Case Reports

Baastrup's disease is a relatively common disorder of the vertebral column, characterized by low back pain arising from the close approximation of adjacent posterior spinous processes and resultant degenerative changes, most commonly at L4-L5. Though fairly common, Baastrup's disease is overwhelmingly underdiagnosed and often missed due to a lack of knowledge and/or improper diagnostic techniques, leading to frequent mistreatment. We present a case of a 56-year-old man who presented with chronic, ongoing low back pain of several years duration. His pain was relieved by flexion of the spine, and aggravated by extension. Imaging studies revealed "kissing" posterior spinous processes, consistent with a diagnosis of Baastrup's Disease. He was treated with subcutaneous steroid injections and showed considerable clinical improvement.
Patient-specific numerical investigation of the correction of cervical kyphotic deformity based on a retrospective clinical case
Authors: Tianchi Wu, Hongyu Chen, Yu Sun, Tian Xia, Feifei Zhou, William W Lu
Journal: Front Bioeng Biotechnol (2022)
Keywords: kyphosis correction, numerical investigation, patient-specific, principal strain, range of motion

Little research has been reported on evaluating the safety of the fixation construct in cervical kyphosis correction. In this study, we proposed a principal-strain criterion to evaluate the safety of the fixation construct and validated the modeling method against a retrospective case of anterior cervical discectomy fusion (ACDF). From C2 to T2 vertebra bodies, fixation instruments were reconstructed and positioned as per postoperative computed tomography (CT) scans. Head weight (HW) and various moments estimated from isometric strength data were imposed onto the C2. The postoperative stability of non-surgical segments, deformations surrounding the screw trajectories, and contact slipping on zygapophysial joints were analyzed. The model was validated against the reality that the patient had a good fusion and deformity correction. The ACDF restricted the range of motions (ROMs) of cervical segments and lent stability to vertebra fusion, no failure was found in the finite element (FE) model of cervical vertebrae. The deformation surrounding the screw trajectories were concentrated to the lateral sides of trajectories, recommending that the shape of the anterior cervical plate conforming to the curvature of the vertebra and screws fully inserted into vertebrae reduced the deformation concentration around the screw trajectories.
Concurrent stenoocclusive disease of intracranial and extracranial arteries in a patient with polycythemia vera
Authors: Le H Hua, Robert L Dodd, Neil E Schwartz
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

Moyamoya disease is a stenoocclusive disease involving the intracranial carotid and proximal middle cerebral arteries. There are rarely any additional extracranial stenoses occurring concurrently with moyamoya. The pathophysiology of moyamoya remains obscure, but hematologic disorders, notably sickle-cell anemia, have been associated in some cases. We describe the novel case of polycythemia vera associated with severe steno-occlusive disease of both intracranial and extracranial large arteries. A 47-year-old woman with polycythemia vera had multiple transient ischemic attacks, and noninvasive vessel imaging revealed steno-occlusive disease of bilateral supraclinoid internal carotid arteries with moyamoya-type collaterals, proximal left subclavian artery, right vertebral artery origin, bilateral renal arteries, superior mesenteric artery, and right common iliac artery. Laboratory workup for systemic vasculitis was negative. She required bilateral direct external carotid to internal carotid bypass procedures and percutaneous balloon angioplasty of her right VA origin stenosis. This case suggests that hematologic disorders can lead to vessel stenoses and occlusion. The pathophysiology may be due to a prothrombotic state leading to repeated endothelial injury, resultant intimal hyperplasia, and progressive steno-occlusion.
Primary Thyroid NUT Carcinoma With High PD-L1 Expression and Novel Massive IGKV Gene Fusions: A Case Report With Treatment Implications and Literature Review
Authors: Juan Zhou, Miao Duan, Qiong Jiao, Chunyan Chen, Aiyan Xing, Peng Su, Juan Tang, Hui Zhang, Zhiyan Liu
Journal: Front Oncol (2022)
Keywords: brd4-nut fusion, igkv gene fusions, nut carcinoma, pd-l1, cytopathology, thyroid
MeSH terms: Case Reports

Background:
Nuclear protein in testis (NUT) carcinoma (NC) is a rare and aggressive undifferentiated carcinoma that typically arises from midline supradiaphragmatic structures. It is uniquely driven by a NUT gene rearrangement on chromosome 15q14. Few thyroid NCs have been reported and there are no established treatment guidelines for NUT carcinoma.
Method:
Ultrasound-guided fine needle aspiration smear was performed for the preoperative diagnosis of thyroid lesions. Cytopathology, histology, and immunochemical staining all indicated NC. Fluorescence in situ hybridization (FISH), qRT-PCR, and next-generation sequencing (NGS) were used to analyze the genetic characteristics of NC.
Results:
We describe a rare case of thyrogenic NC in a 38-year-old male with cytological, histological, immunohistochemical, and genetic features. Cytological smears and histopathological specimens showed typical features of NC. Immunohistochemistry confirmed strong immunoreactivity with NUT, EMA, P63, TTF-1, and c-myc. CK19 was positive exclusively in sudden keratosis. No immunoreactivity was found for neuroendocrine markers. FISH was applied to isolate the NUT gene on chromosome 15q14. The NGS results revealed a BRD4-NUT gene fusion, which was further confirmed by RT-qPCR. Structural variation (SV) of NUTM1 occurred in the exon region, and the mutation site was 15q14. Moreover, BRD4 single-nucleotide variation (SNV) occurs in the 3' UTR at mutation site 19p13.12. The PD-L1 combined predictive score was over 30%. The patient received chemotherapy, followed by programmed cell death 1 (PD-1) inhibition with camrelizumab, and died 10 months after surgery.
Conclusion:
Thyroid NC is an extremely rare and fatal malignant tumor. It is necessary to consider NC when squamous differentiation is observed cytologically or histologically. NGS is an effective tool for obtaining the final diagnosis and obtaining a better understanding of tumor pathogenesis. A large number of IGKV gene fusions in addition to the BRD4-NUT fusion may play a role in the pathogenesis and immunotherapy response of NC. Immunotherapy for NC remains to be explored due to the rarity of this aggressive malignancy.