Unusual Association Research Articles

Recurrent Focal Myositis of the Thigh in a Patient With End-Stage Kidney Disease: An Unusual Association

Recurrent Focal Myositis of the Thigh in a Patient With End-Stage Kidney Disease: An Unusual Association

Bochdaleck hernia and pulmonary sequestration: case report of an unusual association

Bochdaleck hernia and pulmonary sequestration: case report of an unusual association

Transient binocular vision loss and pain insensitivity in Klippel–Feil syndrome: a case report

BackgroundKlippel–Feil syndrome is a rare congenital bone disorder characterized by an abnormal fusion of two or more cervical spine vertebrae. Individuals with Klippel–Feil syndrome exhibit diverse clinical manifestations, including skeletal irregularities, visual and hearing impairments, orofacial anomalies, and anomalies in various internal organs, such as the heart, kidneys, genitourinary system, and nervous system.Case presentationThis case report describes a 12-year-old Pashtun female patient who presented with acute bilateral visual loss. The patient had Klippel–Feil syndrome, with the typical clinical triad symptoms of Klippel–Feil syndrome, along with Sprengel’s deformity. She also exhibited generalized hypoalgesia, which had previously resulted in widespread burn-related injuries. Upon examination, bilateral optic disc swelling was observed, but intracranial pressure was found to be normal. Extensive investigations yielded normal results, except for hypocalcemia and low vitamin D levels, while parathyroid function remained within the normal range. Visual acuity improved following 2 months of calcium and vitamin D supplementation, suggesting that the visual loss and optic nerve swelling were attributed to hypocalcemia. Given the normal parathyroid function, it is possible that hypocalcemia resulted from low vitamin D levels, which can occur after severe burn scarring. Furthermore, the patient received a provisional diagnosis of congenital insensitivity to pain on the basis of the detailed medical history and the findings of severe and widespread loss of the ability to perceive painful stimuli, as well as impaired temperature sensation. However, due to limitations in genetic testing, confirmation of the congenital insensitivity to pain diagnosis could not be obtained.ConclusionThis case highlights a rare presentation of transient binocular vision loss and pain insensitivity in a patient with Klippel–Feil syndrome, emphasizing the importance of considering unusual associations in symptom interpretation.

Giant Intracranial Cavernous Malformations: A Review on Magnetic Resonance Imaging Characteristics

Abstract Background Intracranial cavernous malformations (CMs), commonly known as cavernomas or cavernous angiomas, are low-flow, well-circumscribed vascular lesions composed of sinusoidal spaces lined by a single layer of endothelium and separated by a collagenous matrix without elastin, smooth muscle, or other vascular wall elements. A diameter greater than 3 cm for a CM is unlikely. These lesions may have atypical appearances on magnetic resonance imaging (MRI). MRI with advanced techniques such as a susceptibility-weighted image or T2-gradient echo, a diffusion-weighted image and corresponding apparent diffusion coefficient map, and diffusion tensor tractography have revolutionized the diagnostic approach to these lesions. Materials and Method The present study reviews the etiopathogenesis, clinical manifestations, MRI strategy, and MRI appearances of the CMs, with a few examples of the giant CMs from our archive. Results Intracranial giant CMs may have unexpected locations, sizes, numbers, and varied imaging appearances due to repeated hemorrhages, unusual enhancement patterns, intense perifocal edema, and unusual associations, making the differential diagnosis difficult. Conclusion Familiarity with the MRI appearances of the giant intracranial CMs and the differential diagnosis improves diagnostic accuracy and patient management.

Double aortic arch and aortotracheal fistula as cause of fatal massive bleeding: a rare and dangerous association

To present a clinical case with an unusual association of DAA with ATF and to reinforce the importance of maintaining high diagnostic suspicion in patients with massive aerodigestive bleeding without an obvious source. A 32-week preterm newborn who required prolonged mechanical ventilation and presented intermittent episodes of massive oropharyngeal bleeding with hemodynamic compromise associated with lower airway obstruction without pulmonary hemorrhage. The patient underwent upper endoscopy and exploratory laparotomy without evidence of bleeding. Flexible nasopharyngolaryngoscopy and direct laryngoscopy also showed no abnormalities. A CT angiography showed complete DAA with indentation of the left dominant arch over the trachea, without severe stenosis or evidence of a fistula. AEF was suspected, so exploratory surgery was considered. However, the patient died before surgery due to a massive pulmonary hemorrhage. The autopsy revealed the presence of ATF. In patients with massive aerodigestive bleeding without an obvious source, the presence of DAA and possible AEF/ ATF should be considered. Imaging studies have a poor performance for this diagnosis, so surgery should be considered for diagnosis and treatment in these patients.

X-Linked Levodopa-Responsive Parkinsonism-Epilepsy Syndrome: A Novel PGK1 Mutation and Literature Review.

Genetic underpinnings in Parkinson's disease (PD) and parkinsonian syndromes are challenging, and recent discoveries regarding their genetic pathways have led to potential gene-specific treatment trials. We report 3 X-linked levodopa (l-dopa)-responsive parkinsonism-epilepsy syndrome cases due to a hemizygous variant in the phosphoglycerate kinase 1 (PGK1) gene. The likely pathogenic variant NM_000291.4 (PGK1):c.950G > A;p.(Gly317Asp) was identified in a hemizygous state. Only 8 previous cases have linked this phenotype to PGK1, a gene more commonly associated with hemolytic anemia and myopathy. The unusual association of epilepsy, psychiatric symptoms, action tremor, limb dystonia, cognitive symptoms, and l-dopa-responsive parkinsonism must draw attention to PGK1 mutations, especially because this gene is absent from most commercial hereditary parkinsonism panels. This report aims to shed light on an overlooked gene that causes hereditary parkinsonian syndromes. Further research regarding genetic pathways in PD may provide a better understanding of its pathophysiology and open possibilities for new disease-modifying trials, such as SNCA, LRRK2, PRKN, PINK1, and DJ-1 genes.

Isolated dextrocardia and rheumatoid arthritis with mitral stenosis with pulmonary hypertension with atrial fibrillation: A rare association

This case presents a rare occurrence of rheumatoid arthritis (RA) in a 50-year-old woman with concurrent mitral valvular disease and dextrocardia. Diagnosed with seropositive RA 5 years earlier, the patient exhibited fever, cough, and progressive dyspnea. Clinical examination revealed irregular tachycardia, elevated jugular venous pressure, and signs of heart failure. Laboratory results confirmed seropositive RA, anemia, and elevated inflammatory markers. Electrocardiogram and echocardiogram indicated dextrocardia, atrial fibrillation, and moderate mitral stenosis. This case highlights the unusual association of RA with valvular heart disease and the added complexity of dextrocardia. Recognizing diverse cardiac manifestations in RA is crucial, contributing to the growing evidence linking autoimmune disorders to cardiovascular complications. Further research is essential to understand the intricate relationship between RA and unique cardiac abnormalities.

Synchronous ovarian and uterine tumours, case report of an unusual association

Synchronous ovarian and uterine tumours, case report of an unusual association

Sclerosing angiomatoid nodular transformation of spleen with calcifying fibrous pseudotumor: A rare case with unusual association

Sclerosing angiomatoid nodular transformation (SANT) of the spleen is a rare benign vascular lesion of the spleen that was first described in 2004. SANT is associated with other concurrent diseases, mostly malignancies. Calcifying fibrous pseudotumor (CFPT) is a tumor-like lesion usually arising from soft tissue or peritoneal sub-serosa. Both SANT and CFPT are considered to be variants of the inflammatory myofibroblastic tumor. We report the rare case of a 24-year-old female presenting with a left abdominal mass that was clinically diagnosed as an extraintestinal gastrointestinal stromal tumor (GIST). Histopathological examination revealed SANT of spleen and CFPT. We report this case due to its rarity of occurrence and unusual association of SANT with CFPT.

Once in a blue moon: coronavirus disease complicates pregnancy in a patient with unknown pulmonary hypertension and subsequent left ventricular dysfunction

During COVID-19 pandemic, several clinical manifestations have been described beyond respiratory compromise that characterizes the viral disease. Cardiovascular manifestations are one of the main complications. In this case, we report an unusual association between the novo diagnosis of pulmonary arterial hypertension in a pregnant patient with SARS Cov-2, with subsquent development of left ventricular dysfunction.

Extrapulmonary Sarcoidosis with Concurrent Smouldering Multiple Myeloma Transforming into Plasma cell myeloma: Case Report of an Unusual Association

Extrapulmonary Sarcoidosis with Concurrent Smouldering Multiple Myeloma Transforming into Plasma cell myeloma: Case Report of an Unusual Association

An Unusual Case of Unilateral Iridocorneal Endothelial Syndrome with Keratoconus and Secondary Angle Closure Glaucoma: A Case Report

We report an unusual association of unilateral keratoconus–Iridocorneal endothelial syndrome with secondary angle closure glaucoma in a 22-year-old female. The patient was advised glaucoma drainage device as she was a breastfeeding mother with limited options for antiglaucoma medications. This case highlights the ophthalmologists need to look for multiple entities linked to keratoconus.

Incidental Postmortem Diagnosis of Anterior Communicating Artery Aneurysm After Successful Treatment of Double Aneurysms of the Superior Cerebellar and Paraclinoid Internal Carotid Arteries

Intracranial aneurysm diagnosis uses several tools, of which digital subtraction angiography is still the gold standard. Computed tomography angiography is widely used for its specificity and sensibility. The 3D slicer software is an interesting diagnosis tool that provides high-quality 3D modeling. It facilitates diagnosis and improves aneurysm assessment. However, it is still not approved for clinical tasks. We present a case of a woman treated for a ruptured paraclinoid and superior cerebellar artery aneurysms, and who succumbed to a post-procedural rebleeding. During a research routine, we realized a computed tomography angiography-based 3D slicer modeling that detected an incidental anterior communicating artery aneurysm. This case illustrates an unusual association of two rare intracranial aneurysm locations and the usefulness of the 3D slicer modeling tool in the diagnosis of intracranial aneurysms. Through this report, we recommend using this tool worldwide for clinical tasks.

Thymoma Involved by Small Lymphocytic Lymphoma (SLL): A Rare and Challenging Diagnosis

Abstract Introduction/Objective Thymoma is a malignant neoplasm arising from the epithelial cells of the thymus. It usually affects patients between the fourth and sixth decades of life. There is a strong association of thymoma with myasthenia gravis and other paraneoplastic syndromes Thymic epithelial tumors are the most common tumors of the anterior mediastinum; however, lymphomas frequently present as mediastinal masses. Concurrent thymoma and lymphoma affecting the thymus is very rare. Methods/Case Report A 79-year-old woman with a history of chronic lymphocytic leukemia (CLL)/small lymphocytic lymphoma (SLL) presented with night sweats and weight loss. Chest CT revealed small pulmonary nodules, a 3.3 x cm anterior mediastinal mass and enlarged hilar lymph nodes. Fine needle aspiration (FNA) of the mass revealed a mixture of lymphocytes and epithelial cells. Flow cytometry showed a monoclonal B-cell population, and double CD4/CD8-positive T-cells consistent with thymocytes. Core biopsy showed scattered neoplastic epithelial cells interspersed among densely packed small lymphocytes. Scattered and small clusters of epithelial cells were highlighted by the CK AE1/3 immunostain. CD3 and PAX5 showed the thymocytes and infiltrating B-cells, respectively. Based on cytomorphologic, flow cytometric, histopathologic, and immunohistochemical findings, the diagnosis of thymoma, type B2 involved by SLL was rendered. Results (if a Case Study enter NA) N/A Conclusion A multimodality diagnostic work-up integrating cytomorphology, flow cytometry and immunohistochemistry allowed recognizing this unusual association.

Aberrant Activity of the Calcium Sensor STIM1 Underlies Congenital Platelet Disorders and Myeloproliferative Neoplasms

MB and VA equal contributors AB and STO co-corresponding authors This study was initiated following evaluation of a 32 year-old woman who presented with a history of thrombocytopenia identified in childhood who subsequently developed features of myelofibrosis (MF). A bone marrow biopsy demonstrated hypercellularity in conjunction with megakaryocyte hyperplasia and marked reticulin fibrosis. Molecular testing for JAK2, CALR, and MPL mutations was negative. Given the unusual association between congenital thrombocytopenia and MF in this patient, exome sequencing was performed, revealing a heterozygous R304W mutation in the coiled coil (CC) domain of STIM1. Activating mutations in the CC and EF hand domains of STIM1 have been associated with Stormorken syndrome, a rare congenital platelet disorder associated with abnormal store operated calcium entry (SOCE). We subsequently identified a second patient with MF associated with a STIM1 activating mutation. This individual was found to have severe thrombocytopenia at birth, and exome sequencing revealed a heterozygous S88G mutation in the EF hand of STIM1. A bone marrow biopsy obtained at 6 months of age revealed atypical megakaryocytes and grade 1-2 MF. A repeat biopsy at age 2 showed persistence of stable MF. The unusual finding of MF in these two patients suggested the possibility of altered calcium signaling as a shared mechanism driving congenital platelet disorders such as Stormorken syndrome and myeloproliferative neoplasms (MPNs) including MF. In support of this notion, we identified elevated STIM1 expression in MF vs normal megakaryocyte progenitors, as well as in platelets from patients with essential thrombocythemia (ET) vs healthy controls. Additionally, we found that STIM1 expression was significantly elevated in CD34+ hematopoietic stem/progenitor cells (HSPCs) from both ET and MF patients vs healthy controls. Notably, STIM1 expression was increased in both JAK2 and CALR-mutant MF patients. Collectively, these findings provide evidence of aberrant STIM1 expression in MPN patient cells. To determine the functional role of STIM1 in MPN disease development, colony assays and patient-derived xenograft (PDX) experiments were performed with MF patient CD34+ cells subjected to CRISPR ablation of STIM1. Strikingly discordant results were observed with JAK2 vs CALR-mutant patient samples. Abrogation of STIM1 in CALR-mutant CD34+ cells led to decreased colony formation, and NSGS mice engrafted in parallel with STIM1-targeted cells exhibited decreased human CD45+ cell engraftment in conjunction with prolonged survival. These findings suggest an important role for STIM1 in CALR-mutant MPN disease phenotypes. In contrast, targeting of STIM1 in JAK2-mutant CD34+ cells led to increased colony formation and exacerbated disease phenotypes in vivo as manifested by enhanced human CD45+ cell engraftment, worsened splenomegaly, and early lethality. Similar results were obtained in experiments utilizing pharmacologic inhibitors of SOCE activity. Taken together, these findings indicate that the consequences of aberrant STIM1 activity may be context-dependent relating to specific MPN driver mutations. To expand these observations, we identified a separate cohort of 9 family members in Italy with Stormorken syndrome and confirmed STIM1 EF hand mutations. In ex vivo megakaryocytic differentiation assays, cells from affected individuals exhibited a defect in proplatelet formation. These observations were corroborated by initial analyses of a newly generated Stim1 R304W conditional knock-in mouse which recapitulated the characteristic thrombocytopenia found in patients with Stormorken syndrome. In summary, this study represents the first demonstration of MF development in patients with Stormorken syndrome, thereby uncovering a previously unrecognized hallmark of altered calcium signaling via aberrant STIM1 activation underlying Stormorken syndrome and MPNs. Our findings suggest distinct mechanisms relating to the interaction between JAK2 vs CALR mutation and altered STIM1 activity. Further studies of these relationships may have important ramifications for potential therapeutic approaches targeting these pathways.

Renal Transplant Artery Stenosis and Kinking: An Unusual Association

Renal artery stenosis of the kidney allograft associated with kinking is not a frequent finding. As a correctable cause of graft dysfunction, it is important to diagnose it as soon as possible to avoid further graft damage and improve graft and patient survival. As pulsed wave Doppler ultrasound mapping of the graft’s renal arteries is essential to diagnose possible alterations, point of care ultrasound (POCUS) is a highly useful tool for early diagnosis. We present a case in which nephrologists performed this examination promptly allowing a timely diagnosis and treatment plan.

Geochemical and sedimentary features of the unusual association between hybrid carbonates and beachrocks in the Southeastern Brazilian Coast

Rocks formed in beach environments during the Holocene constitute strong evidences of relative sea level variations (RSL) and supply important data for paleoenvironmental reconstruction. At the southeastern Brazilian coast, an unusual association of lithofacies composed of hybrid carbonates and beachrocks was identified on the Parati beach in the Espírito Santo state. In this study, radiocarbon dating and sedimentary and geochemical characterization of five lithofacies were conducted, with the aim of reconstructing the paleoenvironmental conditions of deposition and cementation of this facies association. The lithofacies were classified as quartzarenites, bioclastic quartzarenites, hybrid carbonate and hybrid boundstones, with ages ranging from 2600 to 700 cal yr BP. Sedimentary and geochemical changes observed in these five lithofacies of the shallow shelf off southeastern Brazil reinforce evidence relative sea level variations during the Holocene.

Observing the neighborhood multidimensionality and overweight in children of different developmental stages-the emergence of an unusual association.

The present study examines whether the association of the neighborhood environment and overweight in children is moderated by age. This was a cross-sectional study of 832 children aged 3 to 10years living in the city of Oporto (Portugal). Children were recruited under the scope of the project "Inequalities in Childhood Obesity: The impact of the socioeconomic crisis in Portugal from 2009 to 2015." Overweight was defined according to the International Obesity Task Force criteria. Parents completed a self-administered questionnaire capturing sociodemographic characteristics and their perceptions of their neighborhood environment. Logistic regressions were used to examine the influence of parental perceived neighborhood characteristics (latent variables: attractiveness, traffic safety, crime safety, and walkability) on overweight in children. A stratified analysis by age category was conducted. Overall, 27.8% of the children were overweight, 17.4% were aged 3 to 5years, and 31.8% were aged 6 to 10years. Children aged 3 to 5years were more sensitive to the neighborhood environment than children aged 6 to 10years. For children aged 3 to 5years, the risk of overweight was inversely associated with neighborhood crime safety (OR = 1.84; 95% CI 1.07-3.15; p = 0.030). Conclusion: Our study suggests the existence of a sensitive age period in childhood at which exposure to a hostile neighborhood environment is most determining for weight gain. Until today, it was thought that the impact of the neighborhood environment on younger children would be less important as they are less autonomous. But it may not be true. What is Known: • The neighborhood environment may adversely affect children's weight status. However, the moderating role of child age in the association between neighborhood environment and overweight is uncertain. What is New: • The study highlights that the association between the neighborhood environment and child overweight is attenuated by age. It is stronger for preschoolers than for early school-age children.

Porphyria Cutanea Tarda and Systemic Lupus Erythematosus: An Unusual Association in a Patient with Nephritic Syndrome

Porphyria Cutanea Tarda and Systemic Lupus Erythematosus: An Unusual Association in a Patient with Nephritic Syndrome

Primary Reconstruction of Bladder Neck Transection and Vaginal Laceration Post Blunt Abdominal Injury a Case Report

Blunt abdominal injury is not uncommon in the paediatric population. The presentation can be immediate or delayed, and if not promptly recognized may be attended with complications such as septicaemia, shock or death. Simple, readily available and cheap imaging techniques such as abdominal radiograph and ultrasound scan still remain relevant in the diagnosis of blunt abdominal injuries where abdominal computerized tomography is unavailable or unaffordable. This can expedite the decision for an early surgical exploration. In girls, complete bladder neck transection with vaginal wall injury is a rarely reported and unusual association of blunt abdominal injury more so with delayed presentation in the absence of an associated pelvic fracture. This rare trauma entity in a child can pose a diagnostic difficulty leading to delayed presentation. This is a case of 3 year old girl with 3 weeks history of trauma to the abdomen from collapsed building fence during a heavy downpour. She later developed progressive abdominal distension with pain, constipation, vomiting, fever and drainage of clear fluid per vaginam. She had visited several hospitals but was managed non-operatively. Over the period the patient had some relief of symptoms until she presented to our facility with poorly defined features of peritonitis following a referral from a peripheral hospital. Abdominal ultrasound scan revealed intraperitoneal fluid collection. She was resuscitated and had exploratory laparotomy with primary reconstruction of the bladder neck transection and vaginal wall laceration. She did well immediate postoperative except for the superficial surgical site infection and during follow-up visits. Primary repair of traumatic bladder neck transection and vaginal wall laceration in paediatric patients with delayed presentation of blunt abdominal injury is a feasible option of management. However, long term follow up is recommended as secondary procedures may become necessary.