Reports

8 pages, 4113 KiB

Open AccessCase Report

by Nina Staneva Stoyanova, Marin Atanassov, Vesela Todorova Mitkova-Hristova, Yordanka Basheva-Kraeva and Maria Kraeva

Reports 2025, 8(2), 41; https://doi.org/10.3390/reports8020041 - 28 Mar 2025

Abstract

Background and Clinical Significance: Choroidal nevi are common benign growths originating from pigment cells in the fundus of the eye. They are typically up to 5 mm in diameter, asymptomatic, and incidentally discovered during routine ophthalmological examinations. Case Presentation: We present [...] Read more.

Background and Clinical Significance: Choroidal nevi are common benign growths originating from pigment cells in the fundus of the eye. They are typically up to 5 mm in diameter, asymptomatic, and incidentally discovered during routine ophthalmological examinations. Case Presentation: We present the case of a 48-year-old woman with presbyopic complaints and an incidental finding of a large, pigmented, slightly raised tumor in the fundus of the left eye. Examinations revealed normal visual acuity in both eyes and normal intraocular pressure. Ophthalmoscopy of the left eye identified a large, pigmented lesion measuring 11.55 mm in diameter, with drusen-like deposits along the superior nasal vascular arch. Fluorescein angiography showed atrophic changes in the retinal pigment epithelium without evidence of a pathological vascular network. Ultrasound revealed dimensions of 10.21 mm at the base and 0.57 mm prominence, with no changes observed during a one-year follow-up. Optical coherence tomography (OCT) did not detect any subretinal fluid. The right eye appeared normal. Based on these findings, a giant choroidal nevus in the left eye was suspected, and the clinical approach involved monitoring at 3- to 6-month intervals. Discussion: This case highlights the diagnostic challenges associated with a large, pigmented fundus lesion in a relatively young patient. Giant choroidal nevi, defined as lesions larger than 10 mm at the base, may clinically mimic malignant melanoma. However, features such as drusen and atrophic changes in the retinal pigment epithelium suggest a chronic process. Differentiating between giant choroidal nevi and malignant melanoma is essential due to differing therapeutic approaches. Since some choroidal nevi can undergo malignant transformation, close monitoring for signs of malignancy is crucial. Conclusion: The size of pigmented nevi is a significant risk factor for malignant transformation, underscoring the importance of long-term follow-up for affected patients. Full article

(This article belongs to the Section Ophthalmology)

9 pages, 3590 KiB

Open AccessCase Report

Bilateral Simultaneous Full-Thickness Macular Holes: A Case Report with Spontaneous Resolution

by Isabel López-Bernal, Ángel Sánchez Trancón and Pedro Serra

Reports 2025, 8(2), 40; https://doi.org/10.3390/reports8020040 - 28 Mar 2025

Abstract

Background and Clinical Significance: Full-thickness macular hole (FTMH) is a common retinal condition that impairs detailed vision, with idiopathic causes being the most prevalent. Small macular holes (<250 µm) have the potential for spontaneous closure, whereas larger holes typically require surgical intervention [...] Read more.

Background and Clinical Significance: Full-thickness macular hole (FTMH) is a common retinal condition that impairs detailed vision, with idiopathic causes being the most prevalent. Small macular holes (<250 µm) have the potential for spontaneous closure, whereas larger holes typically require surgical intervention to restore visual acuity (VA). The management of small macular holes remains controversial, as approximately 25% resolve spontaneously. Reporting cases of spontaneous closure may provide evidence to support a conservative, non-surgical approach in such cases. Case Presentation: We report the case of a 65-year-old female patient monitored using spectral domain optical coherence tomography (OCT). She initially presented with unilateral FTMH and subsequently developed an FTMH in the fellow eye during follow-up. Both macular holes closed spontaneously, leading to VA recovery. OCT imaging enabled the identification of vitreomacular traction as the underlying mechanism for hole formation and the bridging process responsible for spontaneous closure. Conclusions: This case highlights the potential for spontaneous anatomical and functional recovery in small-diameter macular holes (<250 µm). A conservative, observational approach may be appropriate in selected cases, potentially avoiding unnecessary surgical intervention. Full article

(This article belongs to the Section Ophthalmology)

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12 pages, 1906 KiB

Open AccessCase Report

Management of Dental Demineralization in a Patient with Complex Medical Conditions: A Case Report and Clinical Outcomes

by Luigi Sardellitti, Enrica Filigheddu and Egle Milia

Reports 2025, 8(2), 39; https://doi.org/10.3390/reports8020039 - 27 Mar 2025

Abstract

Background and Clinical Significance: Dental demineralization is a multifactorial process influenced by biofilm activity, diet, and systemic conditions. While gastroesophageal reflux disease (GERD) is known for its role in enamel erosion, its contribution to cariogenic processes remains underexplored. Additionally, Brugada syndrome, a [...] Read more.

Background and Clinical Significance: Dental demineralization is a multifactorial process influenced by biofilm activity, diet, and systemic conditions. While gastroesophageal reflux disease (GERD) is known for its role in enamel erosion, its contribution to cariogenic processes remains underexplored. Additionally, Brugada syndrome, a genetic arrhythmia disorder, may indirectly affect oral health due to medical complexities and reduced motivation for dental care. This case highlights the management of extensive mineral loss in a patient with GERD and Brugada syndrome, emphasizing the importance of personalized remineralization strategies and interdisciplinary collaboration. Case Presentation: A 27-year-old male with Brugada syndrome, treated with a subcutaneous implantable cardioverter defibrillator (S-ICD), presented with widespread enamel demineralization, multiple active carious lesions, and gingival inflammation. Clinical evaluation revealed a high DMFT index (15), significant plaque accumulation, and an oral pH of 5.8, indicating an elevated risk of mineral loss. Poor hygiene habits, frequent sugar intake, and GERD-related acid exposure contributed to his condition. The therapeutic approach included patient education, fluoride-functionalized hydroxyapatite toothpaste and mousse, dietary modifications, and restorative procedures. After 120 days, improvements included enhanced enamel integrity, a reduction in plaque index (from 50% to 25%), and the resolution of gingival inflammation (BOP: 38% to 12%). Conclusions: This case underscores the importance of an integrated approach to managing dental demineralization in patients with systemic conditions. The combination of remineralization therapy, behavioral modifications, and structured follow-up yielded significant clinical benefits. Further research is needed to develop standardized protocols for individuals at high risk due to systemic factors affecting oral health. Full article

(This article belongs to the Section Dentistry/Oral Medicine)

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8 pages, 570 KiB

Open AccessCase Report

Etiopathogenic and Therapeutic Considerations in a Multiple Sclerosis Case with Acute Toxic Hepatitis

by Maria-Melania Dumitru-Martoiu, Simona Petrescu and Cristina Aura Panea

Reports 2025, 8(2), 38; https://doi.org/10.3390/reports8020038 - 26 Mar 2025

Abstract

Background and Clinical Significance: In multiple sclerosis (MS), there are many therapeutic options, but most of the available drugs can cause drug-induced liver injury (DILI) after the first infusions. A wide group of other drugs may induce liver injury, from simple anti-pyretic [...] Read more.

Background and Clinical Significance: In multiple sclerosis (MS), there are many therapeutic options, but most of the available drugs can cause drug-induced liver injury (DILI) after the first infusions. A wide group of other drugs may induce liver injury, from simple anti-pyretic medication like Acetaminophen to various dietary herb supplements like Ashwagandha. Case Presentation: A 39-year-old female patient, diagnosed with MS, has been previously treated with Glatiramer Acetate and interferon-beta, and is currently undergoing immunomodulatory treatment with natalizumab (infusion no. 81). She had a recent history of an airway infection for which she took 4–5 capsules of Acetaminophen per day for 7 days, along with the consumption of dietary supplement with Ashwagandha herb. She presented with jaundice, pruritus, and lower limb ecchymoses. The laboratory results revealed higher aminotransferase levels, total bilirubin, and alkaline phosphatase. The screening for autoimmune and infectious hepatitis was negative. The scenario of toxic hepatitis induced by recently used drugs (Ashwagandha dietary herb supplement and Acetaminophen) was adequate to start therapy with oral cortisone. The clinical and laboratory results gradually improved, with normal levels of liver enzymes and bilirubin, with no further increase after the discontinuation of corticosteroid therapy and dietary herb supplements. Conclusions: This case highlights the challenges in determining the multiple etiologies and managing acute liver injury in an MS patient on natalizumab, an immunomodulatory drug that can induce liver injury after the first infusions, especially in the context of recent ingestion of hepatotoxic drugs. Full article

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6 pages, 412 KiB

Open AccessCase Report

Efficacy and Safety of Upadacitinib and Vedolizumab Combination for Refractory Orofacial Granulomatosis Associated with Panenteric Crohn’s Disease: A Case Report

by Michele Campigotto, Francesca Priotto, Cinzia Francesca Tonello, Fabio Monica and Saveria Lory Crocè

Reports 2025, 8(2), 37; https://doi.org/10.3390/reports8020037 - 23 Mar 2025

Abstract

Background and Clinical Significance: Orofacial granulomatosis is a rare but often disabling condition potentially associated with inflammatory bowel disease (IBD). Pathogenesis is not well understood, and no disease-specific approved treatment exists to date. Case Presentation: A 26-year-old woman with pan-enteric Crohn’s [...] Read more.

Background and Clinical Significance: Orofacial granulomatosis is a rare but often disabling condition potentially associated with inflammatory bowel disease (IBD). Pathogenesis is not well understood, and no disease-specific approved treatment exists to date. Case Presentation: A 26-year-old woman with pan-enteric Crohn’s disease developed buccal swelling and deep oral ulcers histologically confirmed as associated orofacial granulomatosis. Multiple therapies were attempted during her life, including systemic steroids and immunomodulator drugs as Thalidomide, Adalimumab, and Ustekinumab in combination with topical steroid injections and Cyclosporin application, with no or minimal benefit. Only Infliximab showed good efficacy, but it was suspended due to side effects. Following secondary loss of response to Ustekinumab, compassionate treatment with Upadacitinib, a recently developed oral Jak-1 selective inhibitor, resulted in the complete resolution of the oral ulcers. Moreover, after the 12-week induction phase and the transition to 30 mg/daily maintenance dosage, the oral disease remained controlled. Due to the clinical recurrence of Crohn’s disease, Vedolizumab was added as associated treatment, resulting in complete clinical benefit after six months of follow-up. Conclusions: This is a unique case of orofacial granulomatosis associated with pan-enteric Crohn’s disease successfully treated with Upadacitinib. More data are needed to explore its potential benefits in this clinical condition. Full article

(This article belongs to the Section Gastroenterology)

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9 pages, 740 KiB

Open AccessCase Report

The Spontaneous Improvement of Cricopharyngeal Achalasia in a Child with Motor Delay: A Case Report

by Marco Gitto, Anna Colombo, Alessandro Campari, Eleonora Bonaventura and Sara Rocca

Reports 2025, 8(2), 36; https://doi.org/10.3390/reports8020036 - 22 Mar 2025

Abstract

Background and Clinical Significance: Cricopharyngeal achalasia (CPA) is a rare disorder of the upper esophageal sphincter (UES), characterized by failure of the cricopharyngeus muscle to relax during swallowing. Pediatric CPA is particularly uncommon and often associated with comorbidities, such as neurological impairments, developmental [...] Read more.

Background and Clinical Significance: Cricopharyngeal achalasia (CPA) is a rare disorder of the upper esophageal sphincter (UES), characterized by failure of the cricopharyngeus muscle to relax during swallowing. Pediatric CPA is particularly uncommon and often associated with comorbidities, such as neurological impairments, developmental delays, and laryngomalacia. The existing literature primarily consists of small case series, limiting insights into its natural history, particularly spontaneous resolution. This case highlights a unique instance of spontaneous improvement in CPA, contributing valuable knowledge to pediatric otolaryngology and gastroenterology. Case Presentation: We report the case of a 38 months male with global motor delay, presenting with feeding difficulties, choking, and aspiration. A videofluoroscopic swallow study (VFSS) confirmed CPA with impaired bolus passage and posterior indentation consistent with a cricopharyngeus bar. Despite multidisciplinary consultations, interventional therapies were deferred due to parental preference and cricopharyngeal EMG findings, showing muscle inhibition during swallowing. Over six months, the patient exhibited a spontaneous resolution of feeding difficulties and aspiration, with the normalization of VFSS findings. This rare case suggests a distinct natural history of CPA in young children. Conclusions: This case emphasizes the role of cricopharyngeal EMG in the differential diagnosis for pediatric feeding difficulties and its potential for spontaneous resolution. It highlights the need for further research into prognostic indicators and management strategies for CPA in children, offering a hopeful perspective for clinicians and caregivers. Full article

(This article belongs to the Section Otolaryngology)

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14 pages, 638 KiB

Open AccessBrief Report

Multimodal Telerehabilitation in Post COVID-19 Condition Recovery: A Series of 12 Cases

by Beatriz Carpallo-Porcar, Esther del Corral Beamonte, Carolina Jiménez-Sánchez, Paula Córdova-Alegre, Natalia Brandín-de la Cruz and Sandra Calvo

Reports 2025, 8(1), 35; https://doi.org/10.3390/reports8010035 - 20 Mar 2025

Abstract

Background: Post COVID-19 Condition is a recently recognized syndrome characterized by the persistence of various symptoms, including dyspnea, physical and mental fatigue, and post-exertional malaise. Currently, there is no established treatment or clear consensus on the effectiveness of rehabilitation, and given that [...] Read more.

Background: Post COVID-19 Condition is a recently recognized syndrome characterized by the persistence of various symptoms, including dyspnea, physical and mental fatigue, and post-exertional malaise. Currently, there is no established treatment or clear consensus on the effectiveness of rehabilitation, and given that patients could benefit from home-based rehabilitation, telerehabilitation, defined as remote rehabilitation using telematic systems, may be an option to reach more of the population with persistent COVID-19 symptoms. Therefore, it is necessary to show the efficacy of this telematic approach and the benefits of a multimodal rehabilitation strategy in these patients. Methods: Patients underwent home rehabilitation using a 12-week synchronous telerehabilitation system. The intervention included therapeutic education and physical and respiratory rehabilitation. The following variables were analyzed: Fatigue, quality of life, dyspnea, respiratory strength, aerobic capacity, and upper and lower limb strength. Conclusions: After 12 weeks, significant improvements were found in fatigue, aerobic capacity, and limb and respiratory strength. However, no improvement was found in dyspnea scores, which did not correlate with respiratory strength. Interestingly, a post-intervention correlation emerged between the distance covered in aerobic capacity and perceived fatigue, suggesting that asynchronous telerehabilitation could be a viable treatment strategy for these patients. Full article

(This article belongs to the Section Orthopaedics/Rehabilitation/Physical Therapy)

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10 pages, 6036 KiB

Open AccessCase Report

Clinical Features and PTCH1 Expression in Gorlin–Goltz Syndrome: A Case Report

by Gabriela González-López, Samuel Mendoza-Álvarez, Claudia Patricia Mejia-Velazquez, Carla Monserrat Ramírez-Martínez, Alejandro Alonso-Moctezuma and Luis Fernando Jacinto-Alemán

Reports 2025, 8(1), 34; https://doi.org/10.3390/reports8010034 - 18 Mar 2025

Abstract

Background and Clinical Significance: Basal cell nevoid carcinoma syndrome, or Gorlin–Goltz Syndrome (GGS), is a genetic disease caused by germline mutations in genes involved in the Sonic HedgeHog (SHH) signaling pathway, mainly in the PTCH1 gene. PTCH1 is a receptor for SHH, and [...] Read more.

Background and Clinical Significance: Basal cell nevoid carcinoma syndrome, or Gorlin–Goltz Syndrome (GGS), is a genetic disease caused by germline mutations in genes involved in the Sonic HedgeHog (SHH) signaling pathway, mainly in the PTCH1 gene. PTCH1 is a receptor for SHH, and the activation of SHH signaling exerts a direct effect on the proliferation and maintenance of stem cells; alteration of its signaling could promote a favorable microenvironment for the maintenance of tumor viability. The main clinical manifestations of patients with GGS include multiple basal cell carcinomas, odontogenic keratocysts, calcification of the falx cerebri, palmoplantar fossae, hypertelorism, prognathism, fused or bifid ribs, and macrocephaly, which occur at different stages of life. Case Presentation: Here, the case of a 48-year-old woman is described, for whom a clinical and histopathological diagnosis of GGS was made due to the presence of two major criteria (multiple odontogenic keratocysts and calcification of the falx cerebri) and one minor criterion (congenital anomalies), according to Kimonis. Additionally, an end-point RT-PCR assay showed a decrease in PTCH1 gene expression. A conservative therapy was established, and satisfactory results were obtained in a follow-up period of 18 months. Conclusions: Kimonis' clinical criteria are important for establishing the diagnosis of Gorlin syndrome. Full article

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19 pages, 7313 KiB

Open AccessCase Report

One Family with Cholestasis: The Twisted Road to the Diagnosis of Pfic 3—Three Case Reports

by Raluca Maria Vlad, Irina Dijmărescu, Ruxandra Dobritoiu, Andreea Moga, Laura Balanescu, Oana Neagu and Daniela Pacurar

Reports 2025, 8(1), 33; https://doi.org/10.3390/reports8010033 - 17 Mar 2025

Abstract

Background and Clinical Significance: Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders consisting of mutations of hepatocyte transporting-system genes involved in bile formation. The exact prevalence remains unknown but is estimated at 1 in 500.000 for PFIC [...] Read more.

Background and Clinical Significance: Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders consisting of mutations of hepatocyte transporting-system genes involved in bile formation. The exact prevalence remains unknown but is estimated at 1 in 500.000 for PFIC 3, caused by mutations in the ABCB4 gene. We report three cases of PFIC 3 from the patient’s sister, brother, and cousin, diagnosed in our Pediatric Department in 2022–2023. Case Presentation: Case 1: A 10-year-old girl was admitted for jaundice and abdominal pain. She was diagnosed with severely advanced hepatic cirrhosis and massive cholestasis. Genetic testing showed ABCB4 homozygous mutation. She rapidly developed fulminant liver failure, and a living donor liver transplant was performed. Case 2: A 6-year-old brother was previously diagnosed with cholestatic hepatitis of unknown cause back in 2018 and presented with similar features (generalized jaundice, severe pruritus with generalized scratching lesions); symptoms had progressively developed from the first year of life. He also exhibited particular facial features (big forehead, twisted ear lobe, straight nose). He received cadaveric liver transplantation. Case 3: Nephew of first two children, a 3-year-5-month-old boy, was admitted for failure to thrive and a one-year history of jaundice, pruritus, and splenomegaly. He was tested positive for homozygous ABCB4 mutation. He is currently under medical treatment with stable liver function. Conclusions: The clinical significance of this particular homozygous variant identified in ABCB4 in our series of cases (c.2534G>T (p.Gly845Val)) was uncertain up to this case report. The present data provide convincing evidence as to the correlation between this mutation and the clinical phenotype of PFIC 3. Full article

(This article belongs to the Section Paediatrics)

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12 pages, 587 KiB

Open AccessCase Report

Long QT Interval Syndrome and Female Sex—Review and Case Report

by Lana Maričić, Livija Sušić, Damir Mihić and Nikolina Šego

Reports 2025, 8(1), 32; https://doi.org/10.3390/reports8010032 - 17 Mar 2025

Abstract

Background and Clinical Significance: Congenital LQTS is a life-threatening condition, resulting from a mutation of the gene encoding the cardiac ion channels, which results in prolongation of the ventricular action potential. Genetic screening of family members in symptomatic and asymptomatic patients is crucial [...] Read more.

Background and Clinical Significance: Congenital LQTS is a life-threatening condition, resulting from a mutation of the gene encoding the cardiac ion channels, which results in prolongation of the ventricular action potential. Genetic screening of family members in symptomatic and asymptomatic patients is crucial for the prevention of sudden cardiac death. There are a number of detected mutations of congenital LQTS, of which the three forms LQT1, LQT2, and LQT3 are the best described. In addition to the described ECG morphology, the key triggers and treatment approach are described. This emphasizes even more the importance of timely screening of these patients, and the decision for therapy. It should be emphasized that the phenotypic manifestations significantly depend on the affected genes. The guidelines in the treatment approach are very clear, although it should be emphasized that beta blockers are the first and basic treatment therapy. The therapeutic choice is narrowed especially if they are not effective. Case Presentation: This is a case report of a young woman diagnosed with LQTS who was confirmed to have KCNH2 mutations through genetic analysis. The same mutation was also confirmed in her children. Changes in the therapeutic approach are described, and the use of beta blockers, depending on the symptoms and drug tolerance. Especially in the postpartum period, due to reduced progesterone levels, in this case, the patient was implanted with a cardioverter defibrillator. Conclusions: It should be emphasized that timely recognition is essential for early diagnosis, regular control, timely initiation of treatment, and prevention of adverse events. Full article

(This article belongs to the Section Cardiology/Cardiovascular Medicine)

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11 pages, 3366 KiB

Open AccessCase Report

Type I Diabetes—A Rare Adverse Event Described in Patients Receiving Immunotherapy Versus a Side Effect from SARS-CoV-2 Infection

by Raluca-Ileana Pătru, Miruna Ghigeanu, Maria-Alexandra Barbu, Andreea Iuliana Ionescu and Antone-Iordache Ionuț-Lucian

Reports 2025, 8(1), 31; https://doi.org/10.3390/reports8010031 - 14 Mar 2025

Abstract

Background and Clinical Significance: Lung cancer, a leading cause of global cancer diagnoses, maintains the highest mortality risk despite advances in treatment. Immunotherapy agents, such as anti-programmed death-1/programmed death ligand-1 (PD-1/PD-L1), have revolutionized care for non-small cell lung cancer (NSCLC). However, the [...] Read more.

Background and Clinical Significance: Lung cancer, a leading cause of global cancer diagnoses, maintains the highest mortality risk despite advances in treatment. Immunotherapy agents, such as anti-programmed death-1/programmed death ligand-1 (PD-1/PD-L1), have revolutionized care for non-small cell lung cancer (NSCLC). However, the success is tempered by the emergence of immune-mediated adverse reactions, including the rare onset of type I diabetes. The incidence of diabetes mellitus increased during the SARS-CoV-2 pandemic. While there are several cases of new-onset diabetes after COVID-19 and COVID-19 vaccination, no case of new-onset type 1 diabetes after COVID-19 was described in an immune checkpoint inhibitor (ICI)-treated patient. Case Presentation: A 57-year-old male with stage IV NSCLC (brain and liver metastases) who had been treated with nivolumab for 4 years appeared positive for SARS-CoV-2 infection at a routine check. After two weeks, he was admitted to our clinic with severe fatigue, hyperglycemia, hyponatremia, and hyperkalemia. HbA1c level was normal and serum peptide C was undetectable. Nivolumab treatment was ceased, and the patient became fully dependent on basal–bolus insulin. After 3 months, the patient showed a complete imagistic remission. Conclusions: The case presented significant challenges due to the unclear etiology of newly onset diabetes and the uncommon age at which type 1 diabetes is developed. The outcome suggests that anti-PD-1 and SARS-CoV-2 infection can act synergistically. Full article

(This article belongs to the Section Oncology)

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11 pages, 3403 KiB

Open AccessCase Report

The Benefit and Harm of an Implantable Cardiac Defibrillator in a Patient with Heart Failure: A Case Report and Literature Review

by Mihai Grigore, Andreea-Maria Grigore, Traian-Vasile Constantin, Viorel Jinga and Adriana-Mihaela Ilieșiu

Reports 2025, 8(1), 30; https://doi.org/10.3390/reports8010030 - 12 Mar 2025

Abstract

Background and Clinical Significance: Infective endocarditis (IE) in patients with cardiac implantable electronic devices (CIED-IE) is a severe condition with high mortality and increasing prevalence. Case Presentation: A 50-year-old man with diabetes, idiopathic dilated cardiomyopathy, and a dual-chamber implantable cardioverter-defibrillator (ICD) [...] Read more.

Background and Clinical Significance: Infective endocarditis (IE) in patients with cardiac implantable electronic devices (CIED-IE) is a severe condition with high mortality and increasing prevalence. Case Presentation: A 50-year-old man with diabetes, idiopathic dilated cardiomyopathy, and a dual-chamber implantable cardioverter-defibrillator (ICD) for secondary prevention of sudden cardiac death (SCD) presented with fever and peripheral arthritis. Initially evaluated for rheumatic disease, IE was ruled out at an initial cardiac evaluation. A subsequent computed tomography scan revealed a renal tumor, leading to transfer to the urology department. The patient was later evaluated in our cardiology department, where transthoracic and transesophageal echocardiography identified lead vegetations. Blood cultures and serologic tests remained negative. Empirical antibiotic therapy was initiated, and percutaneous ICD lead extraction was performed, with cultures remaining negative. After six weeks of antibiotic therapy the patient had a favorable outcome, then a subcutaneous ICD (S-ICD) was implanted three months later for SCD prevention. The renal tumor required nephrectomy, confirming clear cell renal carcinoma. Conclusions: This case highlights the diagnostic and therapeutic challenges of blood culture-negative CIED-IE and underscores the importance of a multidisciplinary approach in complex cases. Full article

(This article belongs to the Section Cardiology/Cardiovascular Medicine)

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5 pages, 479 KiB

Open AccessCase Report

Sandifer Syndrome Case Report: An Unusual Presentation with Paroxysmal Torticollis

by Giorgia Segre, Martina Penzo, Giovanna Zorzi and Federica Graziola

Reports 2025, 8(1), 29; https://doi.org/10.3390/reports8010029 - 10 Mar 2025

Abstract

Background and Clinical Significance: Sandifer syndrome is an uncommon manifestation of gastroesophageal reflux disease, characterized by paroxysmal episodes of abnormal posturing, particularly involving the neck and upper body, often associated with underlying esophageal discomfort. Case Presentation: In this report, we present [...] Read more.

Background and Clinical Significance: Sandifer syndrome is an uncommon manifestation of gastroesophageal reflux disease, characterized by paroxysmal episodes of abnormal posturing, particularly involving the neck and upper body, often associated with underlying esophageal discomfort. Case Presentation: In this report, we present a 16-month-old infant who exhibited multiple daily paroxysmal episodes of atypical head posturing, primarily tilted to the right, each lasting less than 10 s, with spontaneous resolution. Notably, these episodes lacked other neurological or systemic symptoms, and the clinical presentation differed from classical descriptions of Sandifer syndrome, which often include more prolonged dystonic posturing or correlation with feeding. The diagnosis was supported by the resolution of symptoms following the administration of a proton pump inhibitor, highlighting the importance of recognizing this condition in infants with unexplained posturing behaviors. Conclusions: This case emphasizes the variability in clinical manifestations of Sandifer syndrome and underscores the need for a high index of suspicion, as timely management of gastroesophageal reflux disease can lead to complete symptom resolution and prevent unnecessary neurological investigations. Full article

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9 pages, 7380 KiB

Open AccessCase Report

A Case Report: The Utility of Multimodality Imaging in the Diagnosis of Cardiac Sarcoidosis–Has It Surpassed the Need for a Biopsy?

by Ali Malik, Paul Ippolito, Sukruth Pradeep Kundur and Sanjay Sivalokanathan

Reports 2025, 8(1), 28; https://doi.org/10.3390/reports8010028 - 6 Mar 2025

Abstract

Background and Clinical Significance: Cardiac sarcoidosis (CS) is a rare but life-threatening disorder, occurring in 2–5% of sarcoidosis cases, though post-mortem studies suggest a higher prevalence. It presents diagnostic challenges due to nonspecific symptoms and the low sensitivity of an endomyocardial biopsy. Recent [...] Read more.

Background and Clinical Significance: Cardiac sarcoidosis (CS) is a rare but life-threatening disorder, occurring in 2–5% of sarcoidosis cases, though post-mortem studies suggest a higher prevalence. It presents diagnostic challenges due to nonspecific symptoms and the low sensitivity of an endomyocardial biopsy. Recent guidelines emphasize multimodal imaging, such as cardiac magnetic resonance imaging (MRI) and positron emission tomography (PET). Given the risk of heart failure (HF) and arrhythmias, early detection is critical. This case highlights the role of non-invasive imaging in diagnosing CS and guiding treatment. Case Presentation: A 54-year-old female with asthma, hyperlipidemia, a recent diagnosis of anterior uveitis, and familial sarcoidosis presented with dyspnea, chest tightness, and worsening cough. Examination revealed anterior uveitis, erythema nodosum, jugular venous distension, and pedal edema. The electrocardiogram (ECG) demonstrated bifascicular block and premature ventricular contractions (PVCs). The brain natriuretic peptide (BNP) was 975 pg/mL, with the transthoracic echocardiogram revealing a left ventricular ejection fraction of 25–30% with global LV akinesis. Coronary computed tomography angiography (CCTA) excluded coronary artery disease. Cardiac MRI showed late gadolinium enhancement, with PET demonstrating active myocardial inflammation, supporting a >90% probability of CS. Given her clinical trajectory and risk of further decompensation, immunosuppressive therapy was initiated without pursuing a biopsy. A dual-chamber implantable cardioverter defibrillator (ICD) was placed due to risk of ventricular arrhythmias. Bronchoalveolar lavage (BAL) showed a CD4/CD8 ratio of 6.53, reinforcing the diagnosis. She responded well to treatment, with symptom improvement and repeat imaging demonstrating signs of disease remission. Conclusions: This case underscores the growing role of multimodal imaging in CS diagnosis, potentially replacing biopsy in select cases. Early imaging-based diagnosis enabled timely immunosuppression and ICD placement, improving outcomes. Full article

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9 pages, 1756 KiB

Open AccessCase Report

Long-Term Follow-Up of a Patient with Ankylosis of a Primary Incisor Caused by Trauma: A Case Report

by Tatsuya Akitomo, Shuma Hamaguchi, Chieko Mitsuhata and Ryota Nomura

Reports 2025, 8(1), 27; https://doi.org/10.3390/reports8010027 - 26 Feb 2025

Abstract

Introduction and Clinical Significance: Tooth ankylosis is a serious complication that can occur because of the replantation of an avulsed tooth. However, few reports have investigated the follow-up of replanted or ankylosed primary incisors because the replantation of primary teeth is not recommended [...] Read more.

Introduction and Clinical Significance: Tooth ankylosis is a serious complication that can occur because of the replantation of an avulsed tooth. However, few reports have investigated the follow-up of replanted or ankylosed primary incisors because the replantation of primary teeth is not recommended in the guidelines of the International Association of Dental Traumatology. Case Presentation: A boy aged 4 years and 8 months was referred to hospital for further evaluation of the maxillary right primary central incisor. It had been avulsed and replanted 2 years earlier. The tooth was positioned higher than the central incisor on the left side, and a metallic percussion sound was noted, leading to a diagnosis of tooth ankylosis. Long-term follow-up revealed the progression of ankylosis, and the tooth was finally extracted. At the age of 7 years and 6 months, permanent tooth eruption was detected, and no pathological finding was observed. Conclusions: In this case, root resorption of the replanted primary incisor was observed with age, but tooth ankylosis progressed, and natural exfoliation was difficult. The authors extracted the primary incisor appropriately, which aided the eruption of a successor permanent tooth. This report suggests the importance of patients visiting the dentist regularly after trauma to primary teeth and appropriate treatment by dentists to erupt the permanent teeth. Full article

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6 pages, 2493 KiB

Open AccessCase Report

Systemic Signs of an Unexpected Guest in a Case of Apparent Upper Gastrointestinal Bleeding Leading to an Endoscopic Extraction of a Foreign Body: A Case Report

by Rareș Crăciun and Cristian Tefas

Reports 2025, 8(1), 26; https://doi.org/10.3390/reports8010026 - 19 Feb 2025

Abstract

Background and Clinical Significance: Upper gastrointestinal (GI) bleeding is a common emergency, typically requiring prompt intervention. This case report presents a unique situation where apparent GI bleeding was ultimately identified as anaphylaxis triggered by accidental wasp ingestion. Such cases are rare, underscoring the [...] Read more.

Background and Clinical Significance: Upper gastrointestinal (GI) bleeding is a common emergency, typically requiring prompt intervention. This case report presents a unique situation where apparent GI bleeding was ultimately identified as anaphylaxis triggered by accidental wasp ingestion. Such cases are rare, underscoring the need for a broad differential diagnosis in atypical presentations. Case Presentation: A 53-year-old male with a history of heavy alcohol use presented with presumed acute hematemesis, hypotension, and tachycardia. An initial examination revealed mild anemia and elevated liver enzymes. An urgent upper GI endoscopy showed severe esophagitis with no signs of active or stigmata of recent bleeding; instead, two dead wasps were found in the gastric antrum. Further inquiry revealed that the patient had recently consumed a home-brewed alcoholic beverage, likely contaminated with the wasps. The patient’s symptoms were then attributed to anaphylaxis from venom exposure rather than hemorrhagic shock. The patient’s condition improved with antihistaminic therapy, and he was discharged with follow-up recommendations. Conclusions: This case highlights the importance of considering rare but critical diagnoses, such as insect-induced anaphylaxis, in patients presenting with presumed GI bleeding. It reinforces the value of thorough history taking, prompt endoscopy, and systematic management in assessing and treating atypical emergency presentations. Full article

(This article belongs to the Section Gastroenterology)

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6 pages, 1527 KiB

Open AccessCase Report

Multidisciplinary Management of Acute Esophageal Necrosis Secondary to Alcoholic Lactic Acidosis: A Case Report

by Luigi Orsini, Alberto Martino, Ornella Picascia, Marco Di Serafino and Giovanni Lombardi

Reports 2025, 8(1), 25; https://doi.org/10.3390/reports8010025 - 19 Feb 2025

Abstract

Background and Clinical Significance: Acute esophageal necrosis (AEN), or black esophagus, is an extraordinary rare source of acute upper gastrointestinal bleeding. Its pathogenesis is still poorly understood, whereas etiology seems to be multifactorial, mainly involving esophageal ischemia, increased acid reflux, and reduced [...] Read more.

Background and Clinical Significance: Acute esophageal necrosis (AEN), or black esophagus, is an extraordinary rare source of acute upper gastrointestinal bleeding. Its pathogenesis is still poorly understood, whereas etiology seems to be multifactorial, mainly involving esophageal ischemia, increased acid reflux, and reduced mucosal defenses. Although alcohol abuse has been reported to be a common trigger factor, only one case of AEN due to severe alcoholic lactic acidosis has been described up to date. Case Presentation: Herein, we describe a case of a non-cirrhotic 61-year-old lady with a history of chronic alcohol abuse, who was admitted to the Emergency Room due to upper gastrointestinal (GI) bleeding. AEN caused by severe alcoholic lactic acidosis was promptly diagnosed by subsequent investigations, including blood test, urinalysis, computed tomography, and upper GI endoscopy. The treatment involved a multidisciplinary, aggressive medical approach, which included one hemodialysis session. Conclusions: This is the second documented case of AEN secondary to alcoholic lactic acidosis, successfully treated with a previously unreported aggressive multidisciplinary approach, involving one hemodialysis session. It highlights the value of a multidisciplinary approach in managing such complex and rare conditions. Full article

(This article belongs to the Section Gastroenterology)

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10 pages, 5842 KiB

Open AccessCase Report

Frontal Variant Alzheimer’s Disease or Primary Psychiatric Disorder? A Case Report

by Siew Fai Liew and Weishan Li

Reports 2025, 8(1), 24; https://doi.org/10.3390/reports8010024 - 18 Feb 2025

Abstract

Background and Clinical Significance: In our case study, the patient experienced approximately a year-long delay in her diagnosis, where her initial diagnosis was mistakenly a primary psychiatric disorder, resulting in undue stress on her family. The aim of this case study is [...] Read more.

Background and Clinical Significance: In our case study, the patient experienced approximately a year-long delay in her diagnosis, where her initial diagnosis was mistakenly a primary psychiatric disorder, resulting in undue stress on her family. The aim of this case study is to raise awareness of frontal variant Alzheimer’s dementia (fvAD) and to increase knowledge amongst clinicians about this disorder, its management and the need for long-term follow up in specialized clinics. Case Presentation: In January 2023, a 56-year-old woman first presented with a 4-month history of worsening cognitive symptoms with considerable overlapping mood symptoms. Her Mini-Mental State Examination (MMSE) score was 20/28, whereas her Frontal Assessment Battery (FAB) score was 6/18. Upon neuropsychological evaluation, she demonstrated multidomain cognitive deficits, where impairments were most prominent in executive dysfunction, learning, memory and semantic fluency. There was evidence of progressive neurodegenerative changes, with brain MRI (April 2024) showing predominant bilateral frontal and parietal volume loss, sparing the occipital and temporal lobes. Amyloid positron emission tomography (PET) was diffusely positive. A diagnosis of fvAD (frontal variant Alzheimer’s dementia) with BPSD was made. Other differential diagnoses included a major neurocognitive disorder due to multiple etiologies (AD and dementia with Lewy bodies (DLB)), frontotemporal dementia (bvFTD), primary progressive aphasia (PPA) and the psychiatric disorder of pseudodementia secondary to a mood disorder. Conclusions: This case presented significant challenges given the atypical neuropsychological profile and the complexity of the symptom presentation with significant neuropsychiatric overlay. The preliminary research findings underscore the complexity of fvAD, warranting future research using fundamental approaches. Full article

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8 pages, 2180 KiB

Open AccessCase Report

A Case Report of Median Nerve Entrapment in a Supracondylar Humeral Fracture: Diagnosis, Treatment, and Results After 5 Years of Follow-Up

by Carlo Colonna, Joil Ramazzotti, Francesco Locatelli, Alessandro Crosio and Pierluigi Tos

Reports 2025, 8(1), 23; https://doi.org/10.3390/reports8010023 - 18 Feb 2025

Abstract

Background and Clinical Significance: Neurological complications in extension-type-III supracondylar humeral fractures (SCHFs) in children represent 11% of cases. An extension-type-III SCHF with posterolateral displacement of the distal fragment is commonly associated with damage to the median nerve and the anterior interosseous nerve [...] Read more.

Background and Clinical Significance: Neurological complications in extension-type-III supracondylar humeral fractures (SCHFs) in children represent 11% of cases. An extension-type-III SCHF with posterolateral displacement of the distal fragment is commonly associated with damage to the median nerve and the anterior interosseous nerve (AIN). Neurological complications are often unnoticed, and their immediate postoperative diagnosis is difficult, particularly in young children. Neurapraxia, the most common complication, usually undergoes spontaneous nerve recovery. Case Presentation: We report a case of a 7-year-old patient with postoperative median nerve palsy after an SCHF (Gartland type III) who was referred to our unit from another hospital due to a lack of spontaneous recovery. In addition, motor and sensory functions were absent. As ultrasound (US) indicated nerve kinking at the fracture site, an exploration was performed. The nerve was trapped within the fracture and the callus. It was surgically extracted, and intraoperative examination with US indicated that resecting the kinked nerve, freeing the two stumps, and attempting a primary end-to-end suture represented the best course of action. We present this case with a 5-year follow-up surgery, which showed a good clinical outcome. Conclusions: This case is noteworthy because of its diagnostic and therapeutic pathways, and it is complemented by surgical and ultrasound images that can assist other surgeons in similar circumstances. Full article

(This article belongs to the Section Orthopaedics/Rehabilitation/Physical Therapy)

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