OpenMed/multicare-articles huggingface dataset:
Weyers Acrofacial Dysostosis: A Case Report
Authors: Aditya M Jain, Amar Taksande, Sarika Gaikwad, Ritwik Nath, Chaitanya Kumar Javvaji
Journal: Cureus (2024)
Keywords: acrodental dysostosis, curry‑hall syndrome, microdontia, onychodystrophy, polydactyly
MeSH terms: Case Reports

Weyers acrofacial dysostosis (WAD) is a rare skeletal dysplasia, which is autosomal-dominant, and the clinical symptoms are presented as dental anomalies, polydactyly, nail dystrophy, and short physical stature. It is also termed "Curry‑Hall syndrome" and reported to be linked to genetic mutations mapped on chromosome 4p16, the region reported being commonly associated with a similar genetic syndrome, Ellis-van Creveld (EVC) syndrome. Most individuals with EVC have congenital heart abnormalities, most often atrial septal defects, unlike WAD. In this case, a 15‑year‑old girl presented with onychodystrophy and polydactyly observed in the hands and feet, microdontia, or agenesis of teeth, which were conical in shape, with a short stature. The patient had dystrophy of nails since birth, and physical growth in terms of height did not match the normal growth parameters with respect to age. The patient also had abnormal dentation with conical-shaped teeth, with the rest of the clinical presentations suggestive of WAD.
Case report: VEXAS syndrome: an atypical indolent presentation as sacroiliitis with molecular response to azacitidine
Authors: Roberto Pereira da Costa, Guilherme Sapinho, Matilde Bandeira, Joana Infante, Tiago Marques, Carla Mimoso Santos, João Forjaz de Lacerda, João Eurico Fonseca, José Carlos Romeu
Journal: Front Immunol (2024)
Keywords: vexas syndrome, autoinflammatory, azacitidine, case report, ruxolitinib
MeSH terms: Azacitidine / therapeutic use, Sacroiliitis / diagnosis, Sacroiliitis / drug therapy, Sacroiliitis / genetics, Ubiquitin-Activating Enzymes / genetics, Case Reports, Humans, Male, Middle Aged, Mutation, Myelodysplastic Syndromes / diagnosis, Myelodysplastic Syndromes / drug therapy, Myelodysplastic Syndromes / genetics, Treatment Outcome, Azacitidine, UBA1 protein, human, Ubiquitin-Activating Enzymes

VEXAS syndrome is a recently described autoinflammatory syndrome caused by the somatic acquisition of UBA1 mutations in myeloid precursors and is frequently associated with hematologic malignancies, chiefly myelodysplastic syndromes. Disease presentation can mimic several rheumatologic disorders, delaying the diagnosis. We describe a case of atypical presentation resembling late-onset axial spondylarthritis, later progressing to a systemic inflammatory syndrome with chondritis, cutaneous vasculitis, and transfusion-dependent anemia, requiring high doses of steroids. Ruxolitinib was used as the first steroid-sparing strategy without response. However, azacitidine showed activity in controlling both inflammation and the mutant clone. This case raises the question of whether azacitidine's anti-inflammatory effects are dependent on or independent of clonal control. We discuss the potential relevance of molecular remission in VEXAS syndrome and highlight the importance of a multidisciplinary team for the care of such complex patients.
Successful case of deferasirox slow desensitization in adults
Authors: Buket Basa Akdogan, Ilkay Koca Kalkan, Gozde Koycu Buhari, Ozlem Ozdedeoğlu, Hale Ates, Kurtulus Aksu, Ferda Oner Erkekol
Journal: Allergol Select (2024)
Keywords: deferasirox, desensitization, drug allergy, hypersensitivity reactions, iron chelators
MeSH terms: Case Reports

Introduction:
When deferasirox is used in iron chelation therapy, maculopapular rash occurs in 10% of patients, but there is no accepted and implemented protocol for the management of these drug reactions in adults.
Case report:
A 23-year-old woman diagnosed with thalassemia major is presented. She had taken 1,500 mg oral deferasirox for 1 week. Five hours after the last dose, a pruritic maculopapular rash developed on the body, face, and hands. The rash spread to the whole body within 3 days. The absolute necessity for the patient to take the drug was clarified by the hematology department. The patient's history was evaluated. A delayed-type hypersensitivity reaction due to deferasirox was considered.
Management:
The slow desensitization protocol described in the literature and applied on a case-by-case basis in pediatric patients was modified to shorten the duration by determining appropriate doses for the current preparation. The desensitization process was started with 1/100,000 of the total dose and the therapeutic dose was reached with a 2- to 2.5-fold increase in dose. No pre-medication was applied. During the procedure, at a low dose of 0.1 mg, local flushing and erythema was observed around the auricle on the face. The reaction did not progress.
Conclusion:
Slow desensitization protocol for oral deferasirox was successfully applied in an adult patient.
Acute Intratonsillar Abscess in an Adult: A Case Report and Literature Review
Authors: Alexandra F Corbin, Arunima Vijay, Jacob Fried, Michele M Carr
Journal: Cureus (2024)
Keywords: antibiotics therapy, ct (computed tomography) imaging, incision and drainage of abscess, intratonsillar abscess, needle aspiration, peritonsillar abscess
MeSH terms: Case Reports

Intratonsillar abscess (ITA) is rarely reported. Here, we present an uncommon case of acute ITA in an adult, discuss the evaluation and treatment plan, and review the ITA literature. The abscess reported in the present study was diagnosed through a combination of clinical findings and computed tomography imaging, and treatment included drainage, intravenous (IV) clindamycin, and IV dexamethasone. The literature reports 72 ITA cases with specified treatments: 21 (29.2%) in adults, 19 (26.4%) in children, and 32 (44.4%) in patients of unspecified ages. Among them, 25 (34.7%) responded to antibiotics alone, 11 (15.3%) to needle aspiration and antibiotics, and 36 (50.0%) needed further intervention. Based on the presented case and literature review, we suggest the use of IV antibiotics with needle aspiration as the primary treatment for acute ITA. Incision and drainage (I&D) with antibiotics should be reserved for cases unresponsive to initial measures, and tonsillectomy is recommended for recurrent post-I&D cases.
Loss of a Guidewire During Central Venous Catheter Insertion Into the Right Internal Jugular Vein
Authors: Pedro Manuel Batarda Sena, Francisco Das Neves Coelho, Lourenço Castro Sousa
Journal: Cureus (2024)
Keywords: central venous access, iatrogenic complication, intensive care unit, retained guidewire, snare-assisted
MeSH terms: Case Reports

Central venous catheter (CVC) insertion is a widely practiced technique for various purposes, such as administering fluids and medications, performing hemodialysis, and monitoring central venous pressure. During CVC insertion, numerous complications can arise, including the loss of the guidewire. This case involves a 35-year-old female undergoing long-term hospitalization due to severe brain injury resulting from head trauma. She required long-term antibiotic therapy. Following the insertion of the CVC, the loss of the guidewire was noted, prompting immediate chest and abdominal X-rays, revealing its location in the inferior vena cava. The guidewire was surgically removed without any recorded complications. To mitigate such complications, it is crucial to enhance technical proficiency in insertion techniques, seek supervision during procedures, and meticulously attend to every detail of the process, adhering closely to approved protocols or guidelines.
Monostotic Scapular Caffey Disease: A Case Report With MRI Correlate
Authors: Madhu Oad, Jonathan Tu, Bilal Siddiqui, Dan Barlev, Salman Shah
Journal: Cureus (2024)
Keywords: caffey disease, infantile cortical hyperostosis, osteomyelitis, periostitis, scapular hyperostosis
MeSH terms: Case Reports

Caffey disease, also referred to as infantile cortical hyperostosis, is a self-limiting inflammatory disease of bone, typically diagnosed in infancy (ages less than five months). This disease is characterized by asymmetric, often polyostotic bony hyperostosis and expansion, with a predilection for the mandible (70-90%). We present a unique case of a two-month-old boy with monostotic scapular hyperostosis. The disease is primarily diagnosed on plain film and further evaluated with bone scintigraphy or skeletal survey to identify the extent of osseous involvement. Accompanying MR imaging is not usually obtained due to lack of specificity and diagnostic utility, and when pursued, can potentially confound the diagnosis. MR findings of this case are presented to re-iterate the benignity of this disease process and obviate the need for further invasive procedures.
Using Platelet-Rich Fibrin to Remove Graphite Tattoos May Yield Excellent Long-Term Result
Authors: Young Joon Cho, Yong Tak Jeong, Tae Hee Lee, Hyun Woo Cho
Journal: Case Rep Dent (2024)
MeSH terms: Case Reports

Graphite tattoos are rarely reported because they are mainly caused by an accidental injury or habits during childhood that cause a pencil to penetrate the oral mucosa. Unlike other pigmentations, it stains layers that are deeper than the subepithelial and mucosal layers, and in most cases, it takes the form of a grayish black macule. This case report describes depigmentation with the denudation technique that was followed by a novel approach of using platelet-rich fibrin to cover exposed bone. A 41-year-old male patient presented with an aesthetic complaint from a grayish black staining on the labial gingiva near the maxillary central and lateral incisors. The lesion was diagnosed as a graphite tattoo due to the patient's history of sticking his gum with pencils when he was young. The entire pigmented gingiva was surgically removed and covered with two layers of PRF membrane to protect the exposed bone surface and provide an extracellular matrix for migration of gingival fibroblasts. Healing patterns were observed at 1, 2, 4, and 8 weeks, and satisfactory clinical and aesthetic results were obtained. Creeping attachment was observed at 8 years postop, and there was no recurrence for a long-term period of 13 years.
Variable clinical presentation of split hand/foot malformation syndrome in a family with microduplication of 10q24.32: a case report
Authors: Daria Akimova, Tatiana Markova, Maria Ampleeva, Mikhail Skoblov
Journal: Front Genet (2024)
Keywords: ectrodactyly, mosaicism, pathogenic duplications, split hand/foot malformation, whole genome sequencing
MeSH terms: Case Reports

SHFM (Split Hand/Foot Malformation) is a heterogeneous group of disorders characterized by the presence of clefts in the hands and feet, along with syndactyly of the digits. In this article, we describe a family in which two members exhibit characteristic developmental abnormalities associated with SHFM, presenting with variable clinical features. Using whole-genome sequencing, we identified a microduplication of a chromosomal segment on locus 10q24.32, specifically spanning positions 102934495 to 103496555, encompassing genes BTRC, POLL, FBXW4 and LBX1 in the proband. Genomic duplications, including these genes, were previously described in patients diagnosed with the third type of SHFM. We validated the presence of this structural rearrangement in 7 family members, including the proband and the proband's father. Remarkably, further investigation demonstrated that the detected duplication exhibits a mosaic state in the phenotypically normal paternal grandmother of the proband, thereby providing a plausible explanation for the absence of a pathological phenotype in her.
Primary endobronchial multifocal Ewing's sarcoma: a rare case report
Authors: Dan Liu, Xiaoge Liu, Xin Li, Yisha Liu, Junlun Yu
Journal: Front Oncol (2024)
Keywords: ewsr1-fli1 fusion gene, ewing’s sarcoma, case report, endobronchus, thoracic tumor
MeSH terms: Case Reports

Extraskeletal Ewing's sarcoma (ES) has been reported to originate from various sites. Primary endobronchial ES is an extremely rare bronchial tumor, especially multifocal lesions. This report describes a rare presentation of primary bronchial ES in a 31-year-old female who was referred to the emergency department of our hospital due to suspicion of a foreign body in the bronchus. Computed tomography and bronchoscopy revealed multiple polypoid nodules in the middle bronchus of her right lung, thus excluding the initial diagnosis. Infection-related laboratory tests and serum tumor markers were normal. The bronchial sleeve resection was performed to remove the tumor completely and the patient's clinical symptoms obviously improved. Subsequent imaging, histopathological, immunohistochemical and genetic analyses made a conclusive diagnosis of primary endobronchial ES. To our knowledge, this is the eighth case of primary bronchial ES reported in medical literature.
A Case of Phenibut Withdrawal Management and Detoxification Using Baclofen in the Outpatient Setting
Authors: Emma DiFiore, Julie Pittman
Journal: Case Rep Psychiatry (2024)
MeSH terms: Case Reports

Phenibut, a GABAB receptor agonist, has surged in popularity due to its nootropic and anxiolytic effects. Despite not being FDA approved, it is accessible online due to its marketing as a dietary supplement, leading to unregulated distribution. Increasing reports have highlighted the risks of addiction and severe withdrawal symptoms associated with phenibut use. This case report explores the management of phenibut withdrawal in an outpatient setting using a baclofen taper. The slow taper was complicated by various withdrawal symptoms, and the patient was ultimately stabilized on lorazepam, baclofen, gabapentin, and clonidine after 5-months time. This case is unique, as it also highlights challenges in tapering off baclofen following phenibut detoxification. The study underscores the need for further research on the pharmacological management of phenibut withdrawal, emphasizing the importance of raising awareness about phenibut's dangers and associated clinical presentations.
Minimally invasive transvaginal single-port laparoscopic vesicovaginal fistula repair: a case report and the point of this technique
Authors: Jianbiao Huang, Yu Cheng, Bin Wang, Haichao Chao, Xiangda Xu, Tao Zeng
Journal: Front Surg (2024)
Keywords: case report, repair, single-port laparoscopy, transvaginal, vesicovaginal fistula

The optimal surgical method of vesicovaginal fistula (VVF) remains uncertain. Minimally invasive surgical approaches have become highly popular in line with technological advancements, namely, laparoscopic, robotic, and transvaginal techniques. However, these techniques still require invasiveness. This is the first case report that described a novel "zero-incision" technique for natural orifice transvaginal single-port laparoscopy used to repair a recurrent and high-position VVF. The patient underwent transvaginal single-port laparoscopic repair of a VVF. Methylene blue was used to locate the VVF, and a needle electrode was used to thoroughly remove the scar tissue of the VVF. In addition, this technique for transvaginal single-port laparoscopy provides more working space to expose and repair fistulas conveniently and adequately. One year after surgery, the patient remained asymptomatic and had no fistula recurrence. Minimally invasive transvaginal single-port laparoscopy provides a clear surgical field, is safe and feasible. This novel technique has promising as an additional personalized treatment option for VVF repair.
Imaging and MR Spectroscopy in Papillary Craniopharyngioma
Authors: Ashima Mahajan, Bheru Dan Charan, Sushant Agarwal, Vinay Goel, Leve Joseph Devarajan Sebastian, Vaishali Suri, Ashish Suri, Ajay Garg
Journal: Acta Med Litu (2024)
Keywords: craniopharyngioma, spectroscopy, suprasellar
MeSH terms: Case Reports

Sellar-suprasellar masses exhibit a diverse range of differential diagnoses and it is feasible to establish a preliminary diagnosis before surgery by evaluating conventional CT scans and contrast-enhanced MRI results. Nevertheless, certain cases may present with inconclusive findings, making it challenging to anticipate the underlying tissue composition accurately through imaging alone. Researchers have explored the application of Proton MR spectroscopy in analyzing suprasellar tumors, and their investigations have revealed that it can complement traditional MRI by enhancing the accuracy of preoperative diagnoses. In this context, we report three biopsy-proven cases of suprasellar papillary craniopharyngioma where the MRS spectra derived from the solid component exhibited noticeable lipid peaks alongside reduced levels of choline and NAA. These findings played a pivotal role in facilitating the correct preoperative identification of papillary craniopharyngioma.
Iatrogenic Pituitary Shutdown: A Rare Adverse Event of Programmed Cell Death-Ligand 1 Inhibitor
Authors: Mohammed Al-Hiari, Anthony Workman, Ebubechukwu Ezeh, Samson Teka
Journal: JCEM Case Rep (2024)
Keywords: pd-l1 inhibitor, atezolizumab, hypophysitis, hypopituitarism, immune checkpoint inhibitor
MeSH terms: Case Reports

Immune checkpoint inhibitors (ICIs) are one of the novel treatment strategies for malignancies, and their wide use has led to the emergence of immune-related adverse events (irAEs). Most of them have been reported in patients taking cytotoxic T lymphocyte-associated protein 4 inhibitors and are rarely reported among those taking programmed cell death-ligand protein 1 inhibitors. Here is a 74-year-old man who underwent treatment with atezolizumab for 33 weeks for hepatocellular carcinoma before presenting with chronic symptoms and laboratory results consistent with central adrenal insufficiency. Brain imaging did not show a possible culprit. He was incidentally found to have low thyrotropin (TSH) and low thyroxine prior to his presentation and began replacement with no further workup prior. We advocate keeping a low threshold for the diagnosis of adrenal insufficiency among patients taking ICIs and monitoring their pituitary hormones on a regular basis. Also, it is crucial to rule out pituitary hormonal deficiency among patients with central hypothyroidism prior to initiating replacement.
Case report: Recurrence of inflammatory cardiomyopathy detected by magnetocardiography
Authors: Phillip Suwalski, Ainoosh Golpour, Nicolas Musigk, Finn Wilke, Ulf Landmesser, Bettina Heidecker
Journal: Front Cardiovasc Med (2023)
Keywords: case report, diagnostic method, inflammatory cardiomyopathy, magnetocardiography, therapy monitoring
MeSH terms: Case Reports

Background:
The diagnosis of inflammatory cardiomyopathies remains challenging. Life-threatening conditions such as acute coronary syndrome (ACS) always have to be considered as differential diagnoses due to similarities in presentation. Diagnostic methods for inflammatory cardiomyopathy include endomyocardial biopsy (EMB), cardiac magnetic resonance imaging (CMR), and positron emission tomography-computed tomography (PET-CT). We report a case in whom magnetocardiography (MCG) led to an initial diagnosis of inflammatory cardiomyopathy and in whom MCG was used for subsequent monitoring of treatment response under immunosuppression.
Case presentation:
A 53-year-old man presented with two recurrent episodes of inflammatory cardiomyopathy within a 2-year period. The patient initially presented with reduced exercise capacity. Echocardiography revealed a moderately reduced left ventricular ejection fraction (LVEF 40%). Coronary angiography ruled out obstructive coronary artery disease (CAD) and an EMB was performed. The EMB revealed inflammatory cardiomyopathy without viral pathogens or replication. Moreover, we performed MCG, which confirmed a pathological Tbeg-Tmax vector of 0.108. We recently established a cutoff value of Tbeg-Tmax of 0.051 or greater for the diagnosis of inflammatory cardiomyopathy. Immunosuppressive therapy with prednisolone was initiated, resulting in clinical improvement and an LVEF increase from 40% to 45% within 1 month. Furthermore, the MCG vector improved to 0.036, which is considered normal based on our previous findings. The patient remained clinically stable for 23 months. During a routine follow-up, MCG revealed an abnormal Tbeg-Tmax vector of 0.069. The patient underwent additional testing including routine laboratory values, echocardiography (LVEF 35%), and PET-CT. PET-CT revealed increased metabolism in the myocardium-primarily in the lateral wall. Therapy with prednisolone and azathioprine was initiated and MCG was used to monitor the effect of immunosuppressive therapy.
Conclusion:
In addition to diagnostic screening, MCG has the potential to become a valuable method for surveillance monitoring of patients who have completed treatment for inflammatory cardiomyopathy. Furthermore, it could be used for treatment monitoring. While changes in the magnetic vector of the heart are not specific to inflammatory cardiomyopathy, as they may also occur in other types of cardiomyopathies, MCG offers a tool of broad and efficient diagnostic screening for cardiac pathologies without side effects.
Diagnostic measures in patients with severe insect sting reactions and elevated baseline serum tryptase levels
Authors: Silvan Lange, Eva Oppel, Marius Winkler, Franziska Ruëff
Journal: Allergol Select (2024)
Keywords: anaphylaxis, hereditary α-hypertryptasemia, insect venom allergy, mastocytosis, serum tryptase, venom immunotherapy
MeSH terms: Case Reports

Mastocytosis or an elevated basal serum tryptase (bST) level are known risk factors for patients with insect venom allergy. We report on 3 patients with a history of severe anaphylactic insect sting reactions who underwent a detailed workup for insect venom allergy before starting venom immunotherapy. In addition to insect venom sensitization, an elevated concentration of bST (15.5, 20.8, and 23.2 µg/L) was found in all cases. There was no evidence of mastocytosis in the skin (MIS). Further testing revealed hereditary α-hypertryptasemia (HαT) in 2 patients and a D816V mutation by liquid biopsy in 1 patient, which is a minor diagnostic criterion for indolent systemic mastocytosis. Even without iliac crest puncture, causes of elevated bST can be narrowed down with minimally invasive diagnostic measures. As this has practical implications, patients with elevated bST should always undergo further work-up to determine the cause of this abnormal finding.
The spiked helmet sign in a patient with erysipelas: an alarming electrocardiogram sign (a case report)
Authors: Salihou Fall, Sameh Ben Farhat, Ahmed Chelly, Hella Kaddour, Saeb Ben Saad, Ahmed Mohamed El Hedi, Mehdi Slim, Houssem Thabet, Sami Ouannes, Rym Gribaa, Aymen Elhraiech, Neffati Elyes
Journal: Pan Afr Med J (2023)
Keywords: electrocardiogram, stemi mimic, case report, prognosis, spiked helmet sign
MeSH terms: Erysipelas, ST Elevation Myocardial Infarction / diagnosis, Sepsis / diagnosis, Case Reports, Electrocardiography, Female, Head Protective Devices, Humans, Middle Aged

Early diagnosis of the spiked helmet sign is challenging. This ST-elevation myocardial infarction mimic was first described in 2011 by Littmann and colleagues and was linked to severe non-coronary pathologies, with a high risk of mortality. We present a case of a 60-year-old female patient who developed severe erysipelas with sepsis associated with severe hypokalemia. She had a spiked helmet sign on her routine electrocardiogram at hospital admission. We performed a coronary angiogram that showed no culprit artery. She developed afterward an ischemic stroke. Through intensive management of the patient's sepsis and electrolyte disturbance, she had a favorable outcome.
Drop finger caused by lung cancer metastasis
Authors: Toshiyuki Sumi, Jun Sakakibara-Konishi, Keito Suzuki, Hirofumi Chiba
Journal: Respirol Case Rep (2024)
Keywords: met exon 14 skipping mutation, drop finger, lung cancer, malignant tumour metastasis, tumour‐induced nerve compression
MeSH terms: Case Reports

Skeletal muscle metastasis of lung cancer is rare. However, clinicians should be aware that tumour-induced nerve compression symptoms may develop.