OpenMed/multicare-articles huggingface dataset:
Case Report: Differential diagnosis for tuberous sclerosis and neurofibromatosis type 1 diagnostic pitfall of aggressively enlarged right upper limb
Authors: Cheng-Jiang Wei, Li-Ling Peng, Man-Hon Chuang, Zhi-Chao Wang, Bin Wang
Journal: Front Oncol (2022)
Keywords: case report, differential diagnosis, follow-up recommendation, neurofibromatosis type 1 (nf1), treatment, tuberous sclerosis complex (tsc)
MeSH terms: Case Reports

Tuberous sclerosis complex (TSC) is an inherited disorder that typically presents with seizures, developmental delay, cutaneous lesions, and facial angiomas. Clinical diagnosis of TSC based on symptoms is sometimes challenging due to its clinical similarities with neurofibromatosis type 1 (NF1), another type of neurogenetic tumor syndrome. Differential diagnosis should be carefully performed on the basis of clinical presentations, imaging, laboratory, and genetic testing. Here, we presented a case of a patient with an aggressively enlarged right upper limb in the NF1 clinic, who was initially suspected of a giant plexiform neurofibroma. However, differential diagnosis revealed TSC as the final diagnosis. The treatments for NF1 and TSC vary significantly, and misdiagnoses can lead to serious threat to the patients' health. We also systematically reviewed all previous cases regarding differential diagnoses between NF1 and TSC. This case report can help clinicians make more accurate diagnoses and benefit the potential patient community.
Listeria monocytogenes Meningoencephalitis and Cerebral Abscess in a Heart Transplant Recipient
Authors: Paul C Adjei
Journal: Case Rep Infect Dis (2020)
MeSH terms: Case Reports

A 54-year-old male, five months postorthotopic heart transplantation, presented with intermittent fevers, headaches, and "soupy" stools. Prior to presentation, he had low-level cytomegalovirus (CMV) viremia for two straight weeks. Given his immunosuppression, diarrhea, and low-level CMV viremia, he was presumed to have cytomegalovirus and/or C. difficile colitis and treated empirically for both on hospital day one. However, he developed neck pain/stiffness, diaphoresis, and worsening fevers on hospital day three. Blood cultures eventually grew Listeria monocytogenes; MRI of the brain with gadolinium showed left brain meningoencephalitis with early cerebral abscess formation. Lumbar puncture revealed elevated opening pressure, CSF neutrophilic pleocytosis, and elevated CSF protein and lactate but negative gram stain and cultures. First-line agent for Listeria meningoencephalitis is ampicillin. However, he reported amoxicillin allergy. Desensitization to ampicillin failed because ampicillin was too unstable per the allergist. He was therefore treated with penicillin monotherapy for eight weeks with complete resolution of his brain lesions and without any residual neurologic deficits.
Pheochromocytoma as the first manifestation of MEN2A with RET mutation S891A: report of a case
Authors: Yatsuka Hibi, Tamae Ohye, Kimio Ogawa, Yoshimi Shimizu, Masahiro Shibata, Chikara Kagawa, Yutaka Mizuno, Shinya Uchino, Shinji Kosugi, Hiroki Kurahashi, Katsumi Iwase
Journal: Surg Today (2014)
MeSH terms: Adrenal Gland Neoplasms / genetics, Multiple Endocrine Neoplasia Type 2a / genetics, Mutation, Pheochromocytoma / genetics, Proto-Oncogene Proteins c-ret / genetics, Thyroid Neoplasms / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adrenal Gland Neoplasms / diagnosis, Adrenal Gland Neoplasms / pathology, Adrenal Gland Neoplasms / surgery, Adrenalectomy, Calcitonin, Diagnostic Imaging, Female, Humans, Middle Aged, Multiple Endocrine Neoplasia, Multiple Endocrine Neoplasia Type 2a / diagnosis, Multiple Endocrine Neoplasia Type 2a / pathology, Multiple Endocrine Neoplasia Type 2a / surgery, Pedigree, Pheochromocytoma / diagnosis, Pheochromocytoma / pathology, Pheochromocytoma / surgery, Protein Structure, Tertiary / genetics, Protein-Tyrosine Kinases / chemistry, Protein-Tyrosine Kinases / genetics, Thyroid Function Tests / methods, Thyroid Neoplasms / diagnosis, Thyroid Neoplasms / pathology, Thyroid Neoplasms / surgery, Thyroidectomy, Calcitonin, Protein-Tyrosine Kinases, Proto-Oncogene Proteins c-ret, RET protein, human

We report a rare case with pheochromocytoma as the first manifestation of multiple endocrine neoplasia type 2A with RET mutation S891A. Bilateral pheochromocytomas were identified in a 54-year-old woman. Screening for RET revealed a rare S891A mutation located in the intracellular tyrosine kinase domain. This mutation was previously recognized as one of the mutations only in cases manifesting solely medullary thyroid carcinomas (MTCs). Since calcitonin stimulation test indicated positive result, total thyroidectomy was performed 1 year after the bilateral adrenalectomy, and C-cell hyperplasia was diagnosed by histopathological examination. Our report suggests that cases with S891A mutation, akin to those with other RET mutations, require screening for pheochromocytoma. In addition, it is indicated that calcitonin stimulation test should be performed even in the unaffected elder cases with S891A mutation although the mutation is classified as lowest risk group on MTC in guidelines.
Emergent Median Sternotomy for Mediastinal Hematoma: A Rare Complication following Internal Jugular Vein Catheterization for Chemoport Insertion-A Case Report and Review of Relevant Literature
Authors: Saptarshi Biswas, Marwa Sidani, Sunil Abrol
Journal: Case Rep Anesthesiol (2014)

Mediastinal hematoma is a rare complication following insertion of a central venous catheter with only few cases reported in the English literature. We report a case of a 71-year-old female who was admitted for elective chemoport placement. USG guided right internal jugular access was attempted using the Seldinger technique. Resistance was met while threading the guidewire. USG showed a chronic clot burden in the RIJ. A microvascular access was established under fluoroscopic guidance. Rest of the procedure was completed without any further issues. Following extubation, the patient complained of right-sided chest pain radiating to the back. Chest X-ray revealed a contained white out in the right upper lung field. She became hemodynamically unstable. Repeated X-ray showed progression of the hematoma. Median Sternotomy showed posterior mediastinal hematoma tracking into right pleural cavity. Active bleeding from the puncture site at RIJ-SCL junction was repaired. Patient had an uneventful recovery. Injury to the central venous system is the result of either penetrating trauma or iatrogenic causes as in our case. A possible explanation of our complication may be attributed to the forced manipulation of the dilator or guidewire against resistance. Clavicle and sternum offer bony protection to the underlying vital venous structures and injuries often need sternotomy with or without neck extension. Division of the clavicle and disarticulation of the sternoclavicular joint may be required for optimum exposure. Meticulous surgical technique, knowledge of the possible complications, and close monitoring in the postprocedural period are of utmost importance. Chest X-ray showed to be routinely done to detect any complication early.
Necrotizing fasciitis in a young patient with acute myeloid leukemia - a diagnostic challenge
Authors: Mareen Brumann, Viktoria Bogner, Andreas Völkl, Karl Sotlar, Ekkehard Euler, Wolf Mutschler
Journal: Patient Saf Surg (2014)
Keywords: acute myeloid leukemia, diagnostic difficulties, granulocytopenia, necrotizing fasciitis, soft tissue infection
MeSH terms: Case Reports

Background:
Necrotizing fasciitis is characterized by a fulminant destruction of the soft tissue with an alarmingly high mortality rate. One of the main reasons for the continued high mortality is due to the challenge to punctual recognize and diagnose this disease, as specific cutaneous signs can vary or even be missing early in its evolution - especially in case of simultaneous first manifestation of an acute leukemia.
Case presentation:
An untypical case of necrotizing fasciitis disease in a young patient with the first diagnosis of acute myeloid leukemia is presented. After her induction chemotherapy the only presenting clinical sign was fever in the presence of severe neutropenia without an evident infectious focus. After a few days a painless confluent, erythematous, pustular skin rash with a central necrosis on lateral thigh appeared. Escherichia coli was isolated from blood cultures. Surgical debridement was performed and showed subcutaneous tissue, fascia and underlying muscle around the site of initial cutaneous manifestation with typical necrosis on exploration. But, initially taken skin biopsy did not show any typical histopathological findings like bacteria or inflammatory cells confirming necrotizing fasciitis. Nevertheless, the intraoperative findings were impressive and highly indicative for a necrotizing soft tissue infection, so that the patient was treated according to clinical guidelines with extensive recurrent surgical debridement, broad-spectrum antibiotics and intensive care therapy. After recovering from NF, she successfully underwent further chemotherapy and stem cell transplantation.
Conclusion:
The presented case highlights the risk of potential misinterpretation, delayed diagnosis and treatment of necrotizing fasciitis in patients presenting with an untypical clinical and histopathological manifestation of necrotizing fasciitis as a result of severe neutropenia following chemotherapy for acute myeloid leukemia.
Extraosseous benign notochordal cell tumor originating in the lung: a case report
Authors: Yusuke Takahashi, Toru Motoi, Masahiko Harada, Yumiko Fukuda, Tsunekazu Hishima, Hirotoshi Horio
Journal: Medicine (Baltimore) (2015)
MeSH terms: Lung / pathology, Lung Neoplasms / pathology, Neoplasms, Germ Cell and Embryonal / pathology, Case Reports, Female, Humans, Lung Neoplasms / diagnostic imaging, Middle Aged, Neoplasms, Germ Cell and Embryonal / diagnostic imaging, Radiography

Benign notochordal cell tumors (BNCTs) are tumors originating in the axial skeleton, where chordomas occur. Although very rare, some cases of extraosseous chordoma, such as in the soft tissue and lungs, have been reported. We report a case of a primary tumor showing the notochordal characteristics of BNCTs within the axial skeleton.An asymptomatic 57-year-old woman presented with an abnormal shadow on her chest radiograph; chest computed tomography revealed a well-defined round nodule. The resected sample tissue contained a jelly-like small nodule. Histologically, it was identified as a BNCT, based on minimal nuclear atypia, extremely low mitotic activity within the tumor cells lying in a sheet-like arrangement, and focal immunopositivity for brachyury.This is the third case report of BNCT originating in the lungs; BNCTs are considered asymptomatic tumors that are identified by using highly developed chest imaging technology; however, our findings also suggest that these notochordal tumors may potentially originate from extraosseous sites that lack ideal precursor cells. Our case suggests that notochordal tumors can arise from organs that are unrelated to known notochordal development.
Alteration of liver enzymes is a feature of the MYH9-related disease syndrome
Authors: Alessandro Pecci, Ginevra Biino, Tiziana Fierro, Valeria Bozzi, Annamaria Mezzasoma, Patrizia Noris, Ugo Ramenghi, Giuseppe Loffredo, Fabrizio Fabris, Stefania Momi, Umberto Magrini, Mario Pirastu, Anna Savoia, Carlo Balduini, Paolo Gresele, Italian Registry for MYH9-releated diseases
Journal: PLoS One (2012)
MeSH terms: Abnormalities, Multiple / enzymology, Liver / enzymology, Molecular Motor Proteins / metabolism, Myosin Heavy Chains / metabolism, Research Support, Non-U.S. Gov't, Abnormalities, Multiple / genetics, Abnormalities, Multiple / physiopathology, Adolescent, Adult, Aged, Aged, 80 and over, Biopsy, Case-Control Studies, Child, Child, Preschool, Demography, Female, Follow-Up Studies, Humans, Immunohistochemistry, Infant, Liver / pathology, Liver Function Tests, Male, Middle Aged, Molecular Motor Proteins / genetics, Mutation / genetics, Myosin Heavy Chains / genetics, Odds Ratio, Syndrome, Young Adult, MYH9 protein, human, Molecular Motor Proteins, Myosin Heavy Chains

Background:
MYH9-related disease (MYH9-RD) is a rare autosomal dominant genetic syndrome characterized by congenital thrombocytopenia associated with the risk of developing progressive nephropathy, sensorineural deafness, and presenile cataract. During the collection of a large case-series of patients with MYH9-RD we noticed several cases with unexplained elevation of liver enzymes. Our aim was to evaluate if the alteration of liver tests is a feature of the MYH9-RD and to define its clinical significance.
Methods and findings:
Data concerning liver tests, prospectively recorded in the Italian Registry for MYH9-RD, were collected and compared with those of three control populations: patients with autoimmune thrombocytopenia, patients with inherited thrombocytopenias other than MYH9-RD, and the participants to a large epidemiologic survey in an Italian geographic isolate. Thirty-eight of 75 evaluable MYH9-RD patients (50.7%) showed an elevation of ALT and/or AST, and 17 of 63 (27.0%) an increase of GGT. The increases ranged from 1.9 ± 0.7 to 2.7 ± 1.6 fold the upper normal limit. The prevalence of liver test alterations was significantly higher in MYH9-RD patients than in each of the control populations, with odds ratios ranging from 8.2 (95% CIs 2.2-44.8) to 24.7 (14.8-40.8). Clinical follow-up and more detailed liver studies of a subset of patients, including ultrasound liver scan, liver elastography and liver biopsy in one case, did not show any significant structural damage or evolution towards liver insufficiency.
Conclusions:
Elevation of liver enzymes is a frequent and previously unrecognized feature of the MYH9-RD syndrome; however, this defect does not appear to have poor prognostic value.
Congenital Absence of Left Circumflex Artery: A Case Report and Review of the Literature
Authors: Setri Fugar, Lydia Issac, Alexis Kofi Okoh, Christelle Chedrawy, Nadia El Hangouche, Neha Yadav
Journal: Case Rep Cardiol (2017)
MeSH terms: Case Reports

Congenital absence of the left circumflex artery is a rare coronary anomaly with few reported cases in the literature. These patients are usually diagnosed incidentally when they undergo coronary angiography or coronary CT to rule out underlying coronary artery disease. In this article, we report a case of a 46-year-old man who was incidentally found to have a congenitally absent left circumflex artery with a superdominant right coronary artery after a workup was initiated for frequent premature ventricular contractions and regional wall motion on echocardiogram. A review of the clinical presentation, symptoms, and diagnostic modalities used to diagnose this entity is presented.
A Post-Surgical Stereovision Surprise in an Adult With an Exotropia Since Infancy Previously Managed, at Two Years With Surgery
Authors: Revelle A Littlewood, Martin Rhodes, John Burke
Journal: Br Ir Orthopt J (2021)
Keywords: cosmetic, functional, fusion, infant onset exotropia, strabismus surgery
MeSH terms: Case Reports

Aim:
To describe an unexpected sensory outcome in an adult male who is seeking ocular re-alignment for a psychosocially symptomatic large non-specific exotropia with suppression. The primary diagnosis was infant onset exodeviation of unclear diagnosis, was managed with bilateral strabismus surgery at two years of age, little memory of follow-up.
Result:
Measurable binocular single vision (BSV) was demonstrable following surgery at 17 years of age, albeit slowly between two weeks and six months postoperatively and subsequently enhanced. His newly acquired sub-optimal BSV led to symptomatic occupation-associated asthenopia. Following two subsequent operations over a 15-year period, he has stable, symptom-free ocular realignment within three prism diopters of orthophoria and performing tasks that require extended periods of near-vision activity.
Conclusion:
Delayed high levels of stereovision were unexpectedly achieved in an adult with infant onset exotropia with pre-operative sensory suppression that was surgically aligned to near orthophoria. The re-establishment of BSV in such a clinical scenario has to attain a level that is robust enough to meet an individual's social and occupational needs.
A Licorice-Flavored Edema: A Case Report of Glycyrrhizic Acid Toxicity From Chronic Licorice Root Consumption
Authors: Jean-Samuel Blanpain
Journal: Cureus (2023)
Keywords: glycyrrhizin, licorice, lower limb edema, palpebral edema, pseudohyperaldosteronism
MeSH terms: Case Reports

This article presents a case study of a 49-year-old patient who was admitted to the emergency department with hypertension, edema, and intense fatigue caused by excessive consumption for three weeks of licorice herbal teas purchased on the internet. The patient was only taking antiaging hormonal treatment. The examination revealed bilateral edema of the face and lower limbs, and blood tests showed discrete hypokalemia (3.1 mmol/L) and low aldosterone levels. The patient revealed that she had been consuming large amounts of licorice herbal teas to compensate for the lack of sweetness in her low-sugar diet. This case study highlights that although licorice is widely used for its sweet taste and has medicinal properties, it can also have a mineralocorticoid-like activity that can lead to apparent mineralocorticoid excess (AME) when consumed in excess. The main component of licorice responsible for these symptoms is glycyrrhizic acid, which increases the availability of cortisol by decreasing its catabolism and has a mineralocorticoid effect through the inhibition of the enzyme 11-β-hydroxysteroid dehydrogenase (11-β-HSD) type 2. The case also discusses the clinical effects of licorice consumption, such as sodium retention and potassium excretion, leading to potential cardiovascular complications, as well as a differential diagnosis of similar clinical presentations mainly based on laboratory findings including aldosterone level and plasma renin activity (PRA). The potential dangers of consuming excessive amounts of licorice are well established, and we advocate stricter regulations and increased awareness and education for both the general public and the medical profession about these negative side effects and suggest that physicians should consider licorice consumption in their approach to patients' lifestyles and diets.
Is Behavioural Therapy a New Treatment Option for Task-Specific Dystonia in Athletes? A Case Series
Authors: Marleen Ieke Tibben, Erik van Wensen, Beorn Nijenhuis, Johannes Zwerver
Journal: Tremor Other Hyperkinet Mov (N Y) (2023)
Keywords: task-specific dystonia, athletes, behavioural therapy, golf, runner’s dystonia, sports, yips
MeSH terms: Dystonic Disorders / diagnosis, Dystonic Disorders / therapy, Movement Disorders, Case Reports, Athletes, Behavior Therapy, Humans, Dystonia, Focal, Task-Specific

Background:
Task-specific dystonia is a movement disorder of the central nervous system characterized by focal involuntary spasms and muscle contractions, which can negatively affect performance of a specific task. It can affect a wide range of fine motor skills, also in athletes. Current management of task-specific dystonia includes mainly prescribing drugs, exercise therapy or botulinum injections to the affected muscles. Psychological interventions for athletes suffering from task-specific dystonia have not been described extensively so far.
Methods:
We present a case-series of 4 different advanced skill-level athletes with suspected task-specific dystonia, which had a major impact on their performance. They all received treatment consisting of a combination of standardized behavioural therapy and relaxation techniques in the form of hypnosis in a total of 8 sessions in a 16-week time period.
Results:
After treatment, all athletes returned to their original high level of sport performance without further symptoms of their suspected task-specific dystonia.
Discussion:
Behavioural therapy in combination with a relaxation technique seems to be a safe and promising treatment for athletes with suspected task-specific dystonia. Further studies in a larger, preferably randomized controlled trial, are warranted to evaluate if this treatment strategy is effective in athletes with suspected task-specific dystonia.
Subacute Osteomyelitis of the Pediatric Talus: A First Report of Brodie's Abscess from Morganella morganii
Authors: Mitchell C Harris, Daniel C DeRosa, Priscilla A West
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

Brodie's abscess is a subacute form of osteomyelitis which generally occurs in the metaphysis of the femur and tibia in the pediatric population. Pathogens are most commonly Gram-positive bacteria, notably Staphylococcus and Streptococcus. In this article, we describe a young pediatric patient presenting with subacute ankle pain with a subsequent diagnosis of Brodie's abscess of the talus secondary to Morganella morganii. We review the presentation, diagnosis, and treatment of this unique patient. To our knowledge, this is the first report of Morganella morganii as a cause of Brodie's abscess.
Case Report: 3D-Printed Prosthesis for Limb Salvage and Joint Preservation After Tibial Sarcoma Resection
Authors: Zehao Guo, Ran Zhang, Yukang Que, Bo Hu, Shenglin Xu, Yong Hu
Journal: Front Surg (2022)
Keywords: 3d-printed prosthesis, chondrosarcoma, joint-preserving surgery, limb salvage, tibia
MeSH terms: Case Reports

Introduction:
Reconstruction of massive tibial defects in ankle joint-preserving surgery remains challenging though biological and prosthetic methods have been attempted. We surgically treated a patient with only 18-mm distal tibia remaining and reconstructed with a unique three-dimensional printed prosthesis.
Case presentation intervention and outcomes:
A 36-year-old male presented to our clinic with complaints of gradually swelling left calf and palpable painless mass for five months. Imageological exam indicated a lesion spanning the entire length of the tibia and surrounding the vascular plexus. Diagnosis of chondrosarcoma was confirmed by biopsy. Amputation was initially recommended but rejected, thus a novel one-step limb-salvage procedure was performed. After en-bloc tumor resection and blood supply rebuilding, a customized, three-dimensional printed prosthesis with porous interface was fixed that connected the tumor knee prosthesis and distal ultra-small bone segment. During a 16-month follow-up, no soft tissue or prosthesis-related complications occurred. The patient was alive with no sign of recurrence or metastasis. Walking ability and full tibiotalar range of motion were preserved.
Conclusions:
Custom-made, three-dimensional printed prosthesis manifested excellent mechanical stability during the follow-up in this joint-preserving surgery. Further investigation of the durability and rate of long-term complications is needed to introduce to routine clinical practice.