Unusual Case Research Articles

An Unusual Case of Refractory Hypoxia: The Many Ways of Providing Oxygen

An Unusual Case of Refractory Hypoxia: The Many Ways of Providing Oxygen

Atypical presentation of a lymphangioma as a conjunctival horn.

Conjunctival lymphangiomas are rare hamartomas of lymphatic origin that are usually located in the bulbar conjunctiva. They commonly present either as focal or diffuse bulbar chemosis or as dilatation of lymphatic vessels that resembles an isolated cyst or a group of cysts. There can be bleeding inside the lymphangioma resulting in "chocolate cysts".1 We report the unusual case of a conjunctival lymphangioma on a 36 year-old male that presented as a large horn-like protruding structure. The lesion was surgically removed with simple excision associated with cryotherapy to the lesion's borders, as malignancy could not be ruled out preoperatively. Histopathological examination revealed a lymphangioma composed of an ill-defined proliferation of dilated lymphatic channels in the lamina propria, underlying conjunctival epithelium with squamous metaplasia, acanthosis and hyperkeratosis. One year postoperatively, the patient remains asymptomatic and without recurrence of the lesion.

Monogenic lupus with neuroregression in an infant due to rare compound heterozygous variants in C1QA gene: Case based review.

Monogenic lupus is a rare variant of systemic lupus erythematosus (SLE) that develops in patients with a single gene disorder. Early complement component deficiencies were the first forms of monogenic lupus to be described and C1Q gene mutations are one of the most common forms. C1QA complement deficiency has been reported to occur usually due to biallelic variants in C1QA gene and compound heterozygous variants in C1QA gene have rarely been reported. Majority of the monogenic lupus patients with C1Q deficiency present with mucocutaneous, renal, and musculoskeletal manifestations. Our patient is an unusual case of monogenic lupus with severe neurological manifestations along with cutaneous, haematological, and hepatic manifestations secondary to rare compound heterozygous variants in C1QA gene and anti-ribosomal P autoantibody positivity. She was treated with glucocorticoids, rituximab and fresh frozen plasma with partial neurological recovery. Thus, we present a unique case of monogenic lupus due to a rare compound heterozygous variant in C1QA gene with a brief review of literature.

Double trouble: an unusual case of Klebsiella pneumoniae invasive syndrome with liver abscess, gallbladder empyema and infective endocarditis

BackgroundKlebsiella pneumoniae invasive syndrome (KPIS) is characterized by primary pyogenic liver abscess associated with metastatic infections. Although rare, Klebsiella endocarditis carries a high mortality risk.Case presentationA 60-year-old lady with type II diabetes mellitus presented with fever, malaise, right hypochondriac pain and vomiting for two weeks. Ultrasound abdomen revealed a collection within liver, and distended gallbladder with echogenic debris within. 3 days after ultrasound guided pigtail drainage of gallbladder empyema, newly presence murmur detected. Pus, urine, and blood cultures obtained were positive for Klebsiella pneumonia. Echocardiogram exhibited oscillating mass attached to anterior mitral valve leaflet. After 6 weeks of intravenous ceftriaxone, follow-up echocardiogram and ultrasound showed complete resolution of mitral valve vegetation, hepatic and gallbladder collection.ConclusionConcomitant extrahepatic infective endocarditis (IE) should raise concerns in daily practice for patients with Klebsiella pneumoniae liver abscesses, despite the rarity of Klebsiella endocarditis. In the absence of diagnostic suspicion, antibiotic treatment regimens may be shortened, and adverse effects from IE infection may ensue.

Historical and archaeogenomic identification of high-status Englishmen at Jamestown, Virginia

The authors report on ancient DNA data from two human skeletons buried within the chancel of the 1608–1616 church at the North American colonial settlement of Jamestown, Virginia. Available archaeological, osteological and documentary evidence suggest that these individuals are Sir Ferdinando Wenman and Captain William West, kinsmen of the colony's first Governor, Thomas West, Third Baron De La Warr. Genomic analyses of the skeletons identify unexpected maternal relatedness as both carried the mitochondrial haplogroup H10e. In this unusual case, aDNA prompted further historical research that led to the discovery of illegitimacy in the West family, an aspect of identity omitted, likely intentionally, from genealogical records.

Internal Tides Reverse Tidal Currents Around Southern Taiwan

AbstractWe present a highly unusual case in southern Taiwan where internal tides (ITs) completely reverse the barotropic currents. A 3D baroclinic model is first validated and confirms the unexpected tidal current in that area. A series of sensitivity simulations are then used to progressively reveal the exact cause. Contrary to popular belief, a large canyon in that area is not responsible for the flow reversal. Results from using a relaxation technique in the model together with an energy flux analysis indicate that the energy of the large ITs emanated from the Luzon Strait is converted to the barotropic energy near the steep slope, which generates a local circulation and reverses the tidal flow there.

Tempyra biguttula (Hemiptera: Heteroptera: Rhyparochromidae), a new alien species in the fauna of Croatia

Tempyra biguttula Stål, 1874 (Hemiptera: Heteroptera: Lygaeoidea: Rhyparochromidae: Rhyparochrominae: Udeocorini) is a minute seed bug species native in the USA, Mexico and Caribbean. The first record of this alien species in Croatia is provided here based on a single specimen attracted to light in the Pelješac Peninsula (southern Dalmatia) in 2023. This finding is in accordance with the current spread of the species in the Mediterranean area from west to east. A review of the available data concerning the biology and distribution of the species is provided. The identification of T. biguttula within Euro-Mediterranean fauna is addressed and its distribution in that area is mapped. The unusual teratological case of the bilateral asymmetrical oligomery of the antennae of the examined specimen is described.

An unusual case of central abdominal pain: Jejunal diverticulitis

No abstract available

Case Report: Multidisciplinary management of severe blast-related craniofacial and ocular injuries at artisanal gold mining sites in Niger: An unusual case report and comprehensive literature review

Blast-related craniofacial and ocular injuries have traditionally been associated with battlefields. In civilian populations, these injuries were infrequent, primarily arising from accidental explosions or terrorism incidents. Explosions can inflict severe damage to the neurological, ocular, and auditory systems through blast waves, high-velocity foreign bodies, and thermal radiation. The pathophysiology of blast-related craniofacial injuries is specific and complex, with severe cases often involving both penetrating and blunt trauma, leading to high mortality and morbidity rates. These injuries necessitate multidisciplinary management and can be defined as intracranial polytrauma. Recently, Niger has seen a surge in blast injuries, predominantly due to the increase in clandestine artisanal gold mining. Managing these injuries in resource-limited settings poses significant challenge. Comprehensive national data on these injuries are sparse due to high pre-hospital mortality rates and their infrequent occurrence, resulting in limited experience among our local physicians in their management. We present a rare case involving an artisanal gold miner with a history of smoking and previous concussions from explosion exposures. The patient was transferred to our hospital following severe craniofacial and ocular injuries caused by an accidental dynamite explosion at a mining site. On admission, the patient presented altered consciousness, agitation, unstable vital signs, multiple craniofacial wounds, including a large frontal wound with brain substance extrusion, diffuse facial burns, left globe rupture, and rhinorrhagia. After resuscitation and stabilization, brain imaging revealed multiple complex craniofacial fractures with foreign bodies. The patient underwent multidisciplinary surgical management. However, the postoperative course was complicated by post-concussive syndrome, and infection of the surgical wounds, necessitating surgical revision. Following the second surgery, the postoperative course was uneventful, although the patient experienced reduced visual acuity. This case highlights the management challenges in Niger and underscores the urgent need for clinical studies and training for gold miners to enhance safety practices in their activities.

Rapid response to selpercatinib in RET fusion positive pancreatic neuroendocrine carcinoma confirmed by smartwatch

This case report describes the efficacy of selpercatinib, a selective RET inhibitor, in an unusual case of large-cell neuroendocrine pancreatic carcinoma (LCNEPAC) harboring a CCDC6::RET fusion. A 56-year-old male with a history of multiple lines of systemic therapies exhibited marked clinical amelioration shortly after initiating selpercatinib within the LOXO-RET-17001 study (ClinicalTrials.gov ID: NCT03157128, first posted: 2017-05-17). Data from the patient’s smartwatch suggested early efficacy before conventional methods, such as serum tumor markers and CT imaging confirmed the antitumor activity. This case not only underscores the efficacy of selpercatinib in treating RET fusion-positive rare tumors but also highlights the potential of wearable technology in cancer care. In conclusion, the standard readings from commercially available wearable devices can be useful for the monitoring of treatment response to targeted therapy and may serve as digital biomarkers in clinical trials. This approach marks a significant advancement in patient-centric healthcare, leveraging technology to enhance the effectiveness and precision of treatment evaluation.

Prothrombin deficiency with recurrent subretinal hemorrhage.

Ocular hemorrhage has been recorded in congenital factor deficiencies like hemophilia A, but it has never been documented in prothrombin deficiency. Here, we describe an unusual case of sudden vision loss in the right eye caused by subretinal hemorrhage following a coughing episode in a 67-year-old woman. Notably, the patient underwent left eye enucleation 12 years previously under similar circumstances due to subretinal hemorrhage. During the interview, it was discovered that the patient had a history of prothrombin deficiency, which was subsequently confirmed through laboratory testing. Aside from recurrent ocular bleeding and 1 instance of bleeding following dental extraction in childhood, there is no other history of bleeding. Subsequent molecular studies revealed a homozygous missense mutation at G1499A (Arg500Gln), a variant previously identified as R457Q. Although the likelihood of prothrombin deficiency initiating subretinal hemorrhage is low, it is likely to worsen retinal hemorrhage and contribute to difficulty in controlling bleeding. A comprehensive coagulation workup is essential in patients with ocular hemorrhage. Determining factor II activity should be included in individuals exhibiting variably prolonged prothrombin time and activated partial thromboplastin time with correction in mixing studies. Additional investigations, such as genetic sequencing and family studies, are advised for those with isolated low prothrombin levels.

"Kiss of death" an Unusual case Encountered in ENT Emergency.

"Kiss of death" an Unusual case Encountered in ENT Emergency.

Revisiting Special Tray Designs for Complete Denture Impression in An Unusual Case of Posterior Palatal Seal Presentation

Revisiting Special Tray Designs for Complete Denture Impression in An Unusual Case of Posterior Palatal Seal Presentation

Histopathological and medico-legal aspects in a case of death related to an undiagnosed cerebral large B-cell lymphoma.

We report an unusual and undetected case of primary central nervous system lymphoma presenting as multiple lesions in the periventricular occipital lobe in an immunocompetent host, which had manifested as a stroke. The neoplastic diagnosis was made only after death following a thorough autopsy and histopathological examinations which enabled the diagnosis of a rare cancer (primary cerebral lymphoma) which remained undetected and undiagnosed during life.

Japanese spotted fever complicated with pleural effusion in Zhejiang province, China: a case report and literature review.

Japanese spotted fever (JSF) mainly occurs in Japan; however, it has been increasingly reported in China. JSF is typically characterized by fever, rash, and eschar, in addition to non-specific symptoms. Yet, reports on the pulmonary indicators in JSF are limited. Herein, we report an unusual case of JSF associated with pleural effusion and pneumonia, in which the pathogen was identified via blood next-generation sequencing (NGS). We report a case of a 33-year-old woman who presented with fever for five days, rash for two days, and myalgia, fatigue, and edema for one day. She had recently been on vacation when an unknown insect bit her. The doctors at the local primary hospital considered a bacterial infection and administered dexamethasone, ceftriaxone, indomethacin, and anti-allergy agents, but the symptoms persisted. A rash without pruritus or pain developed gradually over the entire body and face. We considered rickettsial infection and administered doxycycline and levofloxacin. Metagenomic NGS from blood confirmed the presence of Rickettsia japonica (R. japonica). Abdominal computed tomography revealed bilateral pleural effusion with two atelectasis; patchy shadows with blurred edges, and uniform enhancement in both lower lungs. After several days of treatment, the symptoms and laboratory results improved. A literature review of the epidemiology of R. japonica and JSF in China, characteristics of JSF, and related pulmonary changes, and technology to diagnose JSF is provided. JSF has a variety of symptoms and is becoming increasingly popular in China. Clinical doctors need to identify it carefully.

Trigeminal nerve hemangioblastoma in the setting of undiagnosed von Hippel-Lindau disease: illustrative case.

Von Hippel-Lindau disease (VHL) is an autosomal dominant tumor predisposition syndrome caused by mutations in the VHL gene. Patients with VHL are predisposed to developing numerous neoplasms, including central nervous system hemangioblastomas that typically arise within the cerebellum, brainstem, or spinal cord. The authors present the unusual case of a 69-year-old patient with a hemangioblastoma of the trigeminal nerve as his initial presentation of VHL. A 69-year-old male presented with progressive right-sided V3 paresthesias, gait disturbance, and diplopia. Magnetic resonance imaging demonstrated an enhancing 0.5-cm nodule within the right trigeminal nerve and an associated peritumoral cyst exerting mass effect on the cerebral peduncle. Neural axis imaging demonstrated pia-based enhancing lesions concerning for multiple spinal hemangioblastomas. The patient underwent an uncomplicated retrosigmoid craniotomy for trigeminal nerve hemangioblastoma resection. The patient had postoperative improvement in his gait, diplopia, and facial paresthesias. Genetic testing revealed that the patient was heterozygous for a pathological mutation in the VHL gene. Hemangioblastomas in adults over 50 years of age should prompt a workup for VHL. Recognizing that cranial nerves are a possible site of hemangioblastoma occurrence is important for neurosurgeons and radiologists alike. Resection of cranial nerve hemangioblastomas is technically challenging but can lead to symptom improvement for patients. https://thejns.org/doi/10.3171/CASE24149.

Efficient Self-Sorting Behaviours of Metallacages with Subtle Structural Differences.

Investigating the self-sorting behaviour of assemblies with subtle structural differences is a captivating yet challenging endeavour. Herein, we elucidate the unusual self-sorting behaviour of metallacages with subtle structural differences in batch reactors and microdroplets. Narcissistic self-sorting of metallacages has been observed for two ligands with identical sizes, shapes, and symmetries, with only minor differences in the substituted groups. In particular, the self-sorting process in microdroplets occurs within 1 min at room temperature, in stark contrast to batch reactors, which require equilibration for 30 min. To reveal the mechanism of self-sorting and the role of microdroplets, we conducted a series of experiments and theoretical calculations, including competitive self-assembly, cage-to-cage transformation, control experiments involving model metallacages with larger cavities, noncovalent interaction analysis, and root mean square deviation (RMSD) analysis. This research demonstrates an unusual case of self-sorting of very similar assemblies and provides a new strategy for facilitating the self-sorting efficiency of supramolecular systems.

An Unusual Case of Mpox Presenting with an Eschar-Like Lesion Over the Neck.

An Unusual Case of Mpox Presenting with an Eschar-Like Lesion Over the Neck.

An Unusual Case of Cutaneous Sarcoidosis Following Treatment with Ocrelizumab: Case Report and Literature Review.

An Unusual Case of Cutaneous Sarcoidosis Following Treatment with Ocrelizumab: Case Report and Literature Review.

Fatigue fracture of the second rib in a professional athlete

A fatigue fracture, also known as stress fracture or overuse fracture, is caused by the summation of micro-injuries resulting from a chronic state of bone overload. It affects 1.4 %- 4.4 % of professional athletes. The most common site of fatigue fractures are the lower limbs. This is related to the heavy load caused by body weight and performing dynamic activities like jumping, running. Typical fractures are fractures of the fifth metatarsal bone, fibula and tibia, and less common fractures of the femur. Fractures involving the bones of the upper limbs and thorax are less commonly reported in the literature. It affect athletes in strength sports and athletes who perform dynamic and repetitive movements with their upper limbs, most often boxers, weightlifters, wrestlers, judokas, swimmers, golfers, rowers. Fractures in the thorax most often involve the first rib. Fractures of ribs II through XII are extremely rarely described. We present an unusual case of a second rib fracture in a professional athlete. A 26-year-old athlete training in racewalking reported increasing pain in the left scapula area 7 days before competing in the European Championships. Immediately after the competition, the pain changed location to the anterior thorax area, making movement of the upper limb and breathing much more difficult. A chest tomography was performed and it revealed a fatigue fracture of the second rib on the left side. The case report presents an atypical fracture in a female racewalking athlete and presents the uncharacteristic symptoms accompanying this fracture. Incorrect initial diagnosis and application of physiotherapy procedures without performing basic diagnostic tests, delay the diagnosis and initiation of proper treatment, and thus the athlete's recovery.