Reports

9 pages, 781 KB

Open AccessCase Report

Congenital Erythropoietic Porphyria with Persistent Severe Biochemical Abnormalities and a Non-Mutilating Clinical Course: A Case Report

by Supriya Peshin, Ehab Takrori, Kaneez S. Khan, Bilal Rahimuddin, Sanjaya K. Upadhyaya, Pintu K. Gami and Sakshi Singal

Reports 2026, 9(1), 65; https://doi.org/10.3390/reports9010065 - 16 Feb 2026

Viewed by 58

Abstract

Background and Clinical Significance: Congenital erythropoietic porphyria (CEP), also known as Günther disease, is a rare autosomal recessive porphyria caused by a deficiency of uroporphyrinogen III synthase, leading to the accumulation of phototoxic type I porphyrins. CEP classically presents in infancy with severe [...] Read more.

Background and Clinical Significance: Congenital erythropoietic porphyria (CEP), also known as Günther disease, is a rare autosomal recessive porphyria caused by a deficiency of uroporphyrinogen III synthase, leading to the accumulation of phototoxic type I porphyrins. CEP classically presents in infancy with severe photosensitivity, blistering, scarring, and hemolytic anemia; however, significant phenotypic variability has increasingly been recognized. Case Presentation: We report a 32-year-old woman diagnosed with CEP in early infancy who demonstrated persistently and profoundly elevated erythrocyte porphyrin levels over more than a decade, yet who followed a relatively non-mutilating clinical course. Genetic testing identified a low-penetrance intronic UROS variant typically associated with erythropoietic protoporphyria, underscoring diagnostic challenges and genotype–phenotype discordance. The patient experienced marked improvement in photosensitivity and burning pain after initiation of afamelanotide, without the need for transfusion therapy or stem cell transplantation. Conclusions: This case highlights the heterogeneity of CEP, the importance of long-term biochemical follow up, and the potential role of afamelanotide in improving quality of life for selected patients with CEP. Full article

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8 pages, 176 KB

Open AccessCase Report

Drug Interactions Are Crucial in the Care of Patients on Opioid Substitutional Therapy—A Case Report

by Sai Keertana Devarapalli, Anna Furman-Dłubała, Agnieszka Bednarska and Justyna Dominika Kowalska

Reports 2026, 9(1), 64; https://doi.org/10.3390/reports9010064 - 14 Feb 2026

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Abstract

Background and Clinical significance: This case describes a patient with a complex medical history who develops an active Mycobacterium tuberculosis (MTB) infection. The complex multidrug regimen has led to significant drug–drug interactions (DDIs) and adverse effects. This case highlights an urgent need for [...] Read more.

Background and Clinical significance: This case describes a patient with a complex medical history who develops an active Mycobacterium tuberculosis (MTB) infection. The complex multidrug regimen has led to significant drug–drug interactions (DDIs) and adverse effects. This case highlights an urgent need for standardized guidelines on dose adjustment and therapeutic monitoring for opioid substitution therapy (OST) and antiretroviral therapy (ART) during MTB treatment to prevent adverse health outcomes and ensure clinical success. Case Presentation: A 43-year-old man with medical history including human immunodeficiency virus (HIV), chronic hepatitis C virus (HCV), psychotic disorder, and opioid dependence maintained on buprenorphine (24 mg/day) presented with acute psychosis and respiratory symptoms. During hospitalization, he was diagnosed with MTB infection and was started on an empirical rifampicin-based anti-MTB regimen. His clinical course was complicated by reduced buprenorphine efficacy caused by rifampicin, which precipitated opioid withdrawal symptoms. Conclusions: The successful clinical stabilization with resolution of withdrawal syndrome, reduced agitation, and normalization of vital signs, including heart rate and blood pressure of this patient, was achieved through targeted management of pervasive DDIs. A strategic ART switch and careful buprenorphine dose titration during rifampicin therapy was the key factor. This case highlights that co-managing HIV, MTB, and opioid use disorder presents a significant challenge where unaddressed DDIs directly threaten treatment efficacy, a patient’s safety, and adherence, and may result in increased toxicity. The case underscores the critical need for proactive DDI assessment, interdisciplinary collaboration, and guideline development for medication optimization in people living with HIV receiving OST. Full article

6 pages, 1322 KB

Open AccessCase Report

Renal-Type Clear Cell Carcinoma of the Prostate: A Histopathological Case Report of a Rare and Underrecognized Variant

by George Stoyanov, Dobri Marchev, Pavel Pavlov and Hristo Popov

Reports 2026, 9(1), 63; https://doi.org/10.3390/reports9010063 - 14 Feb 2026

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Abstract

Background and Clinical Significance: Prostatic malignancies are amongst the leading malignancies in incidence. They represent a mixed group of conditions, predominantly characterized by adenocarcinomas, which are themselves predominantly acinar. Case Presentation: Herein, we present a morphological case report of a 73-year-old [...] Read more.

Background and Clinical Significance: Prostatic malignancies are amongst the leading malignancies in incidence. They represent a mixed group of conditions, predominantly characterized by adenocarcinomas, which are themselves predominantly acinar. Case Presentation: Herein, we present a morphological case report of a 73-year-old male who underwent transrectal ultrasound-guided needle biopsy due to elevated PSA levels (18.61 ng/mL). Histopathology of the biopsy specimen was represented by pleomorphic cells with predominantly clear cytoplasm, with relatively eccentric, pyknotically appearing nuclei with hyperchromatic chromatin and no visible nucleoli. After imaging excluded concomitant renal malignancy and confirmatory immunohistochemistry was carried out, the patient was diagnosed with renal-type clear cell carcinoma of the prostate. Conclusions: While unrecognized by the WHO due to its rarity, renal-type clear cell acinar adenocarcinoma of the prostate is a unique type of prostatic malignancy, which, due to its morphological appearance, necessitated careful differential diagnosis. Full article

(This article belongs to the Section Oncology)

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6 pages, 3326 KB

Open AccessCase Report

Left Atrial Myxoma as a Rare Cause of Acute Coronary Syndrome: A Case Report

by Ismail Mousati, Paul Vermeersch and Nathalie Meyten

Reports 2026, 9(1), 62; https://doi.org/10.3390/reports9010062 - 13 Feb 2026

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Abstract

Background and Clinical Significance: Atrial myxomas are rare, benign cardiac tumors, most commonly originating in the left atrium, with potential for serious embolic and obstructive complications. Case Presentation: We report a 67-year-old woman presenting with acute chest pain and NSTEMI whose [...] Read more.

Background and Clinical Significance: Atrial myxomas are rare, benign cardiac tumors, most commonly originating in the left atrium, with potential for serious embolic and obstructive complications. Case Presentation: We report a 67-year-old woman presenting with acute chest pain and NSTEMI whose coronary angiography results were normal. Echocardiography revealed a large, heterogeneous, stalk-attached left atrial mass, confirmed by transesophageal imaging. Surgical resection was performed two days after diagnosis, and histopathology confirmed it was an atrial myxoma. Postoperative recovery was uneventful, with reassuring follow-up echocardiography. Conclusions: Echocardiography remains an invaluable tool for the identification of atrial myxomas and early surgical excision is critical, as they have an excellent prognosis. Full article

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

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10 pages, 7207 KB

Open AccessCase Report

Primary Non-Germinal Center-Type Large B-Cell Lymphoma Involving the Thoracic Epidural Space, Cauda Equina, and Filum Terminal: Diagnosis and Treatment Using Biportal Endoscopic Spine Surgery—A Case Report and Literature Review

by Nan-Fu Chen and Chien-Yu Ou

Reports 2026, 9(1), 61; https://doi.org/10.3390/reports9010061 - 13 Feb 2026

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Abstract

Background and Clinical Significance: We report a rare case of a 66-year-old male with malignant non-germinal center-type large B-cell lymphoma involving the thoracic epidural, cauda equina, and filum terminal simultaneously. Case Presentation: The patient complained of back pain, rapid progressive numbness, [...] Read more.

Background and Clinical Significance: We report a rare case of a 66-year-old male with malignant non-germinal center-type large B-cell lymphoma involving the thoracic epidural, cauda equina, and filum terminal simultaneously. Case Presentation: The patient complained of back pain, rapid progressive numbness, and motor palsy in both legs in one month. Neurological examination revealed grade 2 muscle power in both lower limbs, hypesthesia below the T8 dermatome, and bladder and bowel dysfunctions. Magnetic resonance imaging (MRI) with contrast showed a well-defined extradural lesion extending from the T7 to T9 level, with severe spinal cord compression. Additionally, it revealed enlargement of the cauda equina occupying the extradural space from the L1-S1 level. The lesion appeared isointense on T1, mildly hyperintense on T2-weighted images, and exhibited homogeneous enhancement on post-contrast images. To relieve the patient’s spinal cord compression as soon as possible and allow the patient to recover quickly after surgery, we performed unilateral biportal endoscopy (UBE) to completely remove the T7-9 epidural lesion. The immunohistochemical assessment confirmed a histological diagnosis of diffuse large B-cell lymphoma, a non-germinal center type. The patient received radiotherapy to the thoracic and lumbosacral areas (50 Gy) and chemotherapy with six cycles of rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisolone (R-CHOP) after surgery. Follow-up positron emission tomography (PET) scan and MRI performed 4 months after surgery revealed complete remission of the lesion. The patient was able to walk using a walker after therapy. Conclusions: UBE is a favorable option for selected patients requiring immediate chemotherapy or radiotherapy owing to its reduced tissue trauma compared to traditional open surgery. Full article

(This article belongs to the Section Surgery)

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8 pages, 5534 KB

Open AccessCase Report

Cladosporium cladosporioides Fungemia in a Patient with Non-Hodgkin Lymphoma: An Extremely Rare Case and Review of the Literature

by Denis Niyazi, Nikol Daskalova, Ilina Micheva and Temenuga Stoeva

Reports 2026, 9(1), 60; https://doi.org/10.3390/reports9010060 - 13 Feb 2026

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Abstract

Background and Clinical Significance: Cladosporium cladosporioides is a ubiquitous dematiaceous mold that is rarely implicated in invasive human diseases and often considered a saprophyte and plant pathogen. Case Presentation: We report an extremely rare case of C. cladosporioides fungemia in a [...] Read more.

Background and Clinical Significance: Cladosporium cladosporioides is a ubiquitous dematiaceous mold that is rarely implicated in invasive human diseases and often considered a saprophyte and plant pathogen. Case Presentation: We report an extremely rare case of C. cladosporioides fungemia in a 61-year-old man with mantle cell lymphoma undergoing chemotherapy. The patient developed fever, dry cough and cavitary pulmonary lesions in the setting of profound immunosuppression. Blood cultures yielded slow-growing dark pigmented mold after prolonged incubation and species identification was achieved using MALDI-TOF mass spectrometry with an alternative fungal database, supported by microscopic morphology. Serum 1,3-β-D-glucan levels were markedly elevated, while galactomannan antigen testing was negative. Antifungal susceptibility testing demonstrated activity of triazoles and targeted therapy with voriconazole led to clinical improvement. A review of the literature identified only five previously reported cases of invasive C. cladosporioides infections worldwide, involving primarily pulmonary and central nervous system disease. Conclusions: To the best of our knowledge, this is the first documented case of fungemia caused by this species. The current report highlights the pathogenic potential of C. cladosporioides in immunocompromised hosts, the diagnostic challenges posed by slow-growing dematiaceous fungi, the importance of prolonged culture incubation, fungal biomarkers and advanced identification techniques for timely diagnosis and management. Full article

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10 pages, 7255 KB

Open AccessCase Report

Diagnosis of a Liver Lymphangioma Using Contrast-Enhanced Ultrasonography (CEUS): Single Case Report

by Elīza Marta Budava, Ieva Pūce, Kalvis Kaļva and Nauris Zdanovskis

Reports 2026, 9(1), 59; https://doi.org/10.3390/reports9010059 - 13 Feb 2026

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Abstract

Background and Clinical Significance: CEUS enhances the visualization of vascular patterns within liver lesions, enabling differentiation between benign and malignant lesions, including hemangiomas, focal nodular hyperplasia, and hepatocellular carcinoma, with high accuracy. Lymphangiomas are rare benign lymphatic-system tumors, with intra-abdominal lymphangiomas accounting [...] Read more.

Background and Clinical Significance: CEUS enhances the visualization of vascular patterns within liver lesions, enabling differentiation between benign and malignant lesions, including hemangiomas, focal nodular hyperplasia, and hepatocellular carcinoma, with high accuracy. Lymphangiomas are rare benign lymphatic-system tumors, with intra-abdominal lymphangiomas accounting for approximately 5% of cases, most of which occur in the pediatric population. Intra-abdominal lymphangiomas commonly occur in multiple localizations due to lymphangiomatosis, but solitary lymphangiomas in adults are rare and easy to be misdiagnosed due to asymptomatic cases or non-specific symptoms. Case Presentation: A 65-year-old male with a history of left nephroadrenalectomy due to clear renal-cell carcinoma and paraaortic lymphadenectomy (staging pT3bN0M0V1R0) presented for a routine contrast-enhanced abdominal computer tomography examination. The scan showed several hypervascular structures that accumulate contrast in the arterial phase in the right liver lobe. Three years later, the patient developed complaints of abdominal pain and night sweats. Multiple MRI and CT examinations were performed, followed by a CEUS and a liver-core biopsy, which supported the diagnosis of hepatic lymphangioma. Conclusions: CEUS may be a more valuable evaluation method for follow-up examination than repeating CT and MRI scans. The real-time diagnostic possibility and tissue-perfusion data provide more profound information about the lesion of interest. Thus, it can be used as a primary diagnostic tool when a biopsy is performed. Although this method is relatively new, it can be applied in clinical settings with great value, and it saves time and resources. Full article

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10 pages, 3267 KB

Open AccessCase Report

Improvement of Occlusal Function After Clear Aligner Orthodontics Verified by T-Scan Novus Digital Analysis

by Tanya Bozhkova, Nina Musurlieva and Velina Stoeva

Reports 2026, 9(1), 58; https://doi.org/10.3390/reports9010058 - 11 Feb 2026

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Abstract

Background and Clinical Significance: Clear aligner therapy has become a widely used orthodontic treatment, particularly among adults seeking esthetic and comfortable alternatives to fixed appliances. Achieving a stable and functional occlusion remains one of the primary objectives in orthodontics. The T-Scan digital [...] Read more.

Background and Clinical Significance: Clear aligner therapy has become a widely used orthodontic treatment, particularly among adults seeking esthetic and comfortable alternatives to fixed appliances. Achieving a stable and functional occlusion remains one of the primary objectives in orthodontics. The T-Scan digital occlusal analysis system offers an innovative and objective method for quantifying occlusal contact distribution and timing, thereby improving diagnostic accuracy and follow-up. This report aims to present a clinical case demonstrating the use of the T-Scan Novus system for evaluating occlusal balance before and after clear aligner therapy, highlighting its role in documenting short-term functional occlusal changes. Case presentation: A 42-year-old female patient with Class II malocclusion, deep bite, and anterior crowding was treated with Smilers^® clear aligners over nine months (18 aligners). Digital occlusal analysis was performed before treatment and one month after treatment. Pre-treatment analysis demonstrated a pronounced asymmetry in occlusal force distribution, with left-side dominance (67.9%) compared with the right side (32.1%). One month after treatment, occlusal forces were more evenly distributed (52.4% left, 47.6% right). Occlusion time decreased to 0.25 s and disocclusion time to 0.08 s, falling within commonly reported physiological ranges. Conclusions: Within the limitations of a single-case design and short-term follow-up, digital occlusal analysis using the T-Scan Novus system enabled objective documentation of occlusal force distribution and timing changes after clear aligner therapy. These findings are descriptive and hypothesis-generating and should be interpreted cautiously. Full article

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

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9 pages, 3025 KB

Open AccessCase Report

Open Radiocarpal Fracture Dislocation with Neurological Deficit Treated with Standalone External Fixation and Kirshner-Wires: Evaluation of Functional and Radiological Outcomes in a 4-Year Follow-Up: A Rare Case Report

by Constantinos Chaniotakis, Christos Koutserimpas, Petros Kapsetakis, Alexandros Tsioupros and Kalliopi Alpantaki

Reports 2026, 9(1), 57; https://doi.org/10.3390/reports9010057 - 10 Feb 2026

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Abstract

Background and Clinical Significance: Radiocarpal fracture dislocations (RCFDs) are rare injuries of the wrist, while open RCFDs represent a small subgroup of these injuries. Limited data exists regarding the optimal method for their management. Our study’s objective is to present a rare [...] Read more.

Background and Clinical Significance: Radiocarpal fracture dislocations (RCFDs) are rare injuries of the wrist, while open RCFDs represent a small subgroup of these injuries. Limited data exists regarding the optimal method for their management. Our study’s objective is to present a rare case of an open (Gustilo–Anderson type II) dorsal radiocarpal dislocation in combination with fracture of the radial and ulnar styloid and neurologic deficits (superficial radial, median and ulnar nerve), which was treated with external fixation and Kirshner wire pinning. External fixation and Kirshner wire pinning could be a viable surgical option for complicated open RCFD. Case Presentation: Adequate reduction and ligamentotaxis using an external fixation were achieved, while the radial styloid fracture and the distal radioulnar joint (DRJ) were stabilized with Kirshner wires. Postoperative radiographs and clinical evaluation confirmed satisfactory reduction in the right wrist, without signs of intercarpal instability. Total nerve recovery was observed 6 months postoperatively and the patient was able to return to his previous occupation. At the final follow-up (4 years), the Visual Analogue Scale score was 1/10 and the Quick Dash score was 11/100 with good range of motion (flexion: 0–75°, extension: 0–70°, pronation: 0–80°, supination: 0–80°) of the affected wrist, although progressive wrist arthritis and ulnar migration was seen in the plain X-rays. Conclusions: Surgical treatment of RCFDs is required for complex or unstable fractures/dislocations to avoid possible complications, such as intercarpal instability. Full article

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

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11 pages, 10725 KB

Open AccessCase Report

Anaplastic Thyroid Carcinoma and High-Grade Tall Cell Papillary Thyroid Carcinoma: Case Report of a Rare Association

by Catalin-Bogdan Satala, Alina-Mihaela Gurau, Gabriela Patrichi and Daniela Mihalache

Reports 2026, 9(1), 56; https://doi.org/10.3390/reports9010056 - 10 Feb 2026

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Abstract

Background and Clinical Significance: Anaplastic thyroid carcinoma (ATC) is a highly aggressive malignancy that may arise through dedifferentiation from pre-existing differentiated thyroid carcinomas. The tall cell subtype of papillary thyroid carcinoma (TC-PTC) represents an aggressive variant that has been involved in this [...] Read more.

Background and Clinical Significance: Anaplastic thyroid carcinoma (ATC) is a highly aggressive malignancy that may arise through dedifferentiation from pre-existing differentiated thyroid carcinomas. The tall cell subtype of papillary thyroid carcinoma (TC-PTC) represents an aggressive variant that has been involved in this tumor progression pathway. Case Presentation: We report on a rare case of ATC developed in association with a high-grade TC-PTC. A 67-year-old man presented with an enlarging anterior cervical mass. Imaging identified a suspicious nodule in the right thyroid lobe, and total thyroidectomy was performed. Histologic examination revealed a biphasic tumor composed of a nodular TC-PTC with high-grade features, contiguous with an infiltrative anaplastic carcinoma component. The anaplastic component showed marked pleomorphism, loss of thyroid differentiation markers, and an increased ki67 proliferation index. Multinucleated giant cells exhibited aberrant CD68 expression, without proliferative activity. Conclusions: This case illustrates the morphologic association between tall cell papillary thyroid carcinoma with high-grade features and anaplastic thyroid carcinoma, emphasizing diagnostic considerations within the framework of the WHO 5th edition classification. Full article

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9 pages, 4186 KB

Open AccessCase Report

Diagnostic Challenge of Extranodal Marginal Zone Lymphoma of Extraocular Muscles: A Case Report

by Vaia-Aikaterini Alexoudi, Dimitris Tatsis, Christos Varelas, Konstantinos Vaxtsevanos and Aggeliki Cheva

Reports 2026, 9(1), 55; https://doi.org/10.3390/reports9010055 - 9 Feb 2026

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Abstract

Background and clinical significance: The current report examines an unusual case of extranodal marginal zone lymphoma (EMZL) affecting only the extraocular muscles. The diagnostic challenges connected to such atypical manifestations are highlighted. The resemblance to inflammatory or infiltrative processes may lead to diagnostic [...] Read more.

Background and clinical significance: The current report examines an unusual case of extranodal marginal zone lymphoma (EMZL) affecting only the extraocular muscles. The diagnostic challenges connected to such atypical manifestations are highlighted. The resemblance to inflammatory or infiltrative processes may lead to diagnostic delays; therefore, therapy administration may be withheld. Case presentation: A 77-year-old male was admitted to our hospital with periorbital edema accompanied with vision abnormalities affecting his left eye. The complete diagnostic workup and surgical treatment is presented using a navigation system. Adequate biopsy samples from the delicate orbital tissue can be obtained by utilizing contemporary visualization techniques, particularly navigation systems. The pathology report proved indispensable, with ample raw muscle tissue providing sufficient material from whicha definitive diagnosis was made. The indicated therapy was administered without delay. Conclusions: The uncommon, isolated affection of extraocular muscles by extranodal marginal zone lymphoma is exemplified in this case, highlighting the need for early clinical suspicion in order to differentiate this condition from other more prevalent inflammatory pathologies. The implementation of advanced technologies, such as image-guided navigation systems, alongside a highly skilled multidisciplinary medical team, ensures optimal patient results. Full article

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16 pages, 1765 KB

Open AccessArticle

Associations Between Serum 25(OH)D Concentrations and Clinical Characteristics in Pediatric Patients

by Maria Nicolae, Sorin Deacu, Cristina Maria Mihai, Tatiana Chisnoiu, Irina Ion, Claudia Simona Cambrea, Andreea Nelson Twakor, Alexandra Herlo and Oana Cristina Arghir

Reports 2026, 9(1), 54; https://doi.org/10.3390/reports9010054 - 9 Feb 2026

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Abstract

Background/Objectives: Vitamin D has an essential role in immune modulation and inflammatory control, particularly in respiratory infections. Despite widespread supplementation policies, hypovitaminosis D remains common in children and data linking vitamin D status to hospitalization outcomes in pediatric upper respiratory tract infections are [...] Read more.

Background/Objectives: Vitamin D has an essential role in immune modulation and inflammatory control, particularly in respiratory infections. Despite widespread supplementation policies, hypovitaminosis D remains common in children and data linking vitamin D status to hospitalization outcomes in pediatric upper respiratory tract infections are limited, especially in Eastern Europe. Methods: We included 400 pediatric patients hospitalized between October 2020 and December 2024 for acute respiratory tract infections (ARTI), and we stratified them into a Normal Vitamin D group (NVD) with sufficient serum 25(OH)D concentrations and a Low Vitamin D group (LVD) with insufficient or deficient levels. Between-group comparisons for continuous variables were performed using non-parametric methods. Results: Children with insufficient or deficient 25(OH)D had a significantly longer duration of hospitalization compared with those with sufficient levels (mean 4.68 ± 2.59 days vs. 2.89 ± 1.81 days). The LVD group showed markedly lower serum vitamin D concentrations (mean 21.63 ± 5.56 ng/mL; median 22.29 ng/mL) compared with the NVD group (mean 47.60 ± 19.59 ng/mL; median 43.70 ng/mL). Markers of disease severity were consistently higher in vitamin D-deficient patients, including higher clinical scores (mean 3.77 ± 2.29 vs. 1.62 ± 1.89), elevated CRP levels (mean 3.50 ± 3.02 mg/L vs. 1.64 ± 1.59 mg/L), and increased O₂ therapy requirement (69.5% vs. 21.0%). Fever was more frequent in the LVD group (61.0% vs. 32.0%). An inverse correlation was observed between serum 25(OH)D concentrations and hospitalization duration, clinical score, and disease severity, with deficiency present across all age strata in the LVD group, while no cases of deficiency were observed in the NVD group. Conclusions: Low serum 25(OH)D concentrations are associated with increased disease severity and prolonged hospitalization. Full article

(This article belongs to the Section Paediatrics)

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9 pages, 6728 KB

Open AccessCase Report

Autoimmune Gastritis in Children: A Rare Cause of Refractory Iron-Deficiency Anemia

by Alfonso Lendínez-Jurado, Ana García-Ruiz, Manuel Alejandro Sastre-Domínguez, Ana M. Vallejo-Benítez, Andrea Scavarda-Lamberti and Víctor Manuel Navas-López

Reports 2026, 9(1), 53; https://doi.org/10.3390/reports9010053 - 4 Feb 2026

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Abstract

Background and Clinical Significance: Pediatric autoimmune gastritis (AIG) is a rare and frequently underdiagnosed disorder characterized by chronic immune-mediated inflammation and atrophy of the gastric mucosa. In children, AIG typically presents with iron-deficiency anemia (IDA) refractory to oral iron supplementation, in contrast [...] Read more.

Background and Clinical Significance: Pediatric autoimmune gastritis (AIG) is a rare and frequently underdiagnosed disorder characterized by chronic immune-mediated inflammation and atrophy of the gastric mucosa. In children, AIG typically presents with iron-deficiency anemia (IDA) refractory to oral iron supplementation, in contrast to the pernicious anemia more commonly observed in adults. Diagnosis relies on a combination of serological markers, such as anti-parietal cell antibodies, and histopathological confirmation, with gastric biopsies demonstrating oxyntic mucosal atrophy and lymphocytic infiltration. Early recognition is essential, particularly in patients with personal or familial autoimmune backgrounds, to prevent long-term complications including nutritional deficiencies and increased gastric neoplasia risk. Case Presentation: An 11-year-old boy was referred for evaluation of severe microcytic anemia. He was clinically asymptomatic, with normal growth and physical examination except for mucocutaneous pallor. Celiac disease, thyroid dysfunction, hemoglobinopathies, and infectious or inflammatory gastrointestinal causes were excluded. Despite six months of high-dose oral iron therapy, anemia persisted. Upper gastrointestinal endoscopy showed macroscopically normal mucosa; however, histopathological analysis of gastric body biopsies revealed chronic atrophic gastritis. Serological testing confirmed autoimmune etiology, with positive anti-parietal cell antibodies and hypergastrinemia. Since diagnosis, the patient has required two courses of intravenous iron supplementation, and remains under close follow-up for associated autoimmune and hematologic conditions. Conclusions: Refractory IDA may represent the sole clinical manifestation of AIG in pediatric patients, even in the absence of gastrointestinal symptoms. Histological assessment is crucial, as endoscopic findings may be normal. Early diagnostic suspicion allows timely management focused on correction of nutritional deficiencies and long-term surveillance to mitigate neoplastic risk. AIG should therefore be considered in children with anemia unresponsive to conventional iron therapy. Full article

(This article belongs to the Section Paediatrics)

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10 pages, 1818 KB

Open AccessCase Report

Bilateral Optic Neuritis as the Initial Presentation of Acute HIV Infection in a Young Bodybuilder: A Case Report

by Jennifer Lu, Kathleen Tor, Joseph Yasmeh and Monique George

Reports 2026, 9(1), 52; https://doi.org/10.3390/reports9010052 - 3 Feb 2026

Viewed by 318

Abstract

Background and Clinical Significance: Optic neuritis, an inflammatory demyelinating condition affecting the optic nerve, can present as an isolated phenomenon or as a harbinger of an underlying systemic disorder. While often associated with multiple sclerosis (MS), optic neuritis has been reported in [...] Read more.

Background and Clinical Significance: Optic neuritis, an inflammatory demyelinating condition affecting the optic nerve, can present as an isolated phenomenon or as a harbinger of an underlying systemic disorder. While often associated with multiple sclerosis (MS), optic neuritis has been reported in the context of various infectious and inflammatory conditions, including human immunodeficiency virus (HIV) infection. Case Presentation: We describe a case of bilateral optic neuritis that led to the diagnosis of acute HIV infection in a young man actively engaged in bodybuilding, anabolic steroid use, and high-risk sexual behavior. The patient initially presented with an acute onset of vision loss, headache, and photophobia. Magnetic resonance imaging (MRI) findings confirmed demyelination of the optic nerves, and laboratory workup revealed acute HIV-1 infection. The patient improved following high-dose corticosteroids and initiation of antiretroviral therapy. Conclusions: This case highlights the need to consider systemic infections such as HIV in atypical presentations of optic neuritis. Full article

(This article belongs to the Section Infectious Diseases)

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7 pages, 1939 KB

Open AccessCase Report

An Unusual Presentation of Cholangiocarcinoma: The Sister Mary Joseph Nodule—A Case Report

by Toni Esposito, Niharika Singh, Riddhish Sheth and George Keckeisen

Reports 2026, 9(1), 51; https://doi.org/10.3390/reports9010051 - 3 Feb 2026

Viewed by 202

Abstract

Background and Clinical Significance: Sister Mary Joseph nodules (SMJN) are rare extra-intestinal manifestations of metastatic intra-abdominal and pelvic malignancies, often indicating advanced disease and poor prognosis. Their association with cholangiocarcinoma (CCA) is particularly uncommon, with only a limited number of reported cases. [...] Read more.

Background and Clinical Significance: Sister Mary Joseph nodules (SMJN) are rare extra-intestinal manifestations of metastatic intra-abdominal and pelvic malignancies, often indicating advanced disease and poor prognosis. Their association with cholangiocarcinoma (CCA) is particularly uncommon, with only a limited number of reported cases. Case Presentation: We present a case report of a 65-year-old previously healthy male who presented for an elective umbilical hernia repair. Additional findings of elevated direct bilirubin and a history of fatigue in the patient prompted further evaluation with biopsy and imaging, which revealed advanced-stage intrahepatic CCA. Following the diagnosis, the patient underwent biliary stenting and chemotherapy. Conclusions: The variable presentation of SMJN, along with its frequent misdiagnosis, often delays recogni-tion and management of the underlying malignancy. This case of SMJN in the setting of CCA highlights the complex interplay between intra-abdominal and pelvic malignancies and their impact on different organ systems. With the rising incidence and mortality rates associated with CCA, early recognition is essential to improving patient outcomes. This underscores the need for increased clinical awareness and further research, thus support-ing the development of this case report. Full article

(This article belongs to the Section Oncology)

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13 pages, 547 KB

Open AccessCase Report

Onset of Parkinson’s Disease Identified Through Hyperhidrosis: A Middle-Aged Woman Case Report

by Mirko Zitti, Alessandro Andreani, Daniele De Patre, Luisa Cacciante and Giorgia Pregnolato

Reports 2026, 9(1), 50; https://doi.org/10.3390/reports9010050 - 2 Feb 2026

Viewed by 277

Abstract

Background and Clinical Significance: Parkinson’s disease (PD) is a neurodegenerative condition characterized by motor and non-motor symptoms, which significantly impact patients’ autonomy and quality of life levels. Basically, the PD diagnosis is clinical and, in some cases, can be challenging to diagnose [...] Read more.

Background and Clinical Significance: Parkinson’s disease (PD) is a neurodegenerative condition characterized by motor and non-motor symptoms, which significantly impact patients’ autonomy and quality of life levels. Basically, the PD diagnosis is clinical and, in some cases, can be challenging to diagnose due to the heterogeneity of the symptoms. Case Presentation: A 58-year-old woman who, during the COVID-19 lockdown, referred to experiences of slight tremor and stiffness in her left hand at rest, but without any other associated symptoms. Firstly, after consulting a general practitioner (GP), the patient was diagnosed with cervical radiculopathy (CR), presented as essential tremor and stiffness to the hand. Nevertheless, during the initial physiotherapy evaluation, the motor symptoms did not fully align with the diagnosis of CR. For this reason, the presence of non-motor symptoms was thoroughly investigated. Notably, hyperhidrosis was identified as a significant non-motor symptom, leading to the patient’s subsequent referral to a neurologist, who finally diagnosed PD. Conclusions: This case report highlights the essential role of physiotherapists in conducting independent assessments and comprehensive investigations of all patients’ symptoms, even when a medical diagnosis has already been established. This is particularly crucial when there is suspicion that musculoskeletal symptoms may be indicative of neurodegenerative diseases such as PD, which is well-known for its extensive array of non-motor symptoms. Especially in women with PD, non-motor symptoms tend to emerge earlier and in a more subtle manner than motor symptoms, making diagnosis challenging. Therefore, meticulous anamnestic data collection is essential, especially by physiotherapists working in direct-access settings. Full article

(This article belongs to the Section Neurology)

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9 pages, 7947 KB

Open AccessInteresting Images

Fractured Full-Arch Tooth-Supported Zirconia Bridge: Thin Design, Surface Damage, and Excessive Cement Layer Thickness

by João Paulo Mendes Tribst, Bart Jansen, Rafaela Oliveira Pilecco, János Kodolányi and Amanda Maria de Oliveira Dal Piva

Reports 2026, 9(1), 49; https://doi.org/10.3390/reports9010049 - 2 Feb 2026

Viewed by 192

Abstract

Zirconia is widely used in full-arch restorations due to its strength and aesthetics, but failures can still affect its performance in clinical practice. In this report, a full-arch tooth-supported zirconia bridge fractured prematurely (eleven months), encouraging an investigation into its design and failure [...] Read more.

Zirconia is widely used in full-arch restorations due to its strength and aesthetics, but failures can still affect its performance in clinical practice. In this report, a full-arch tooth-supported zirconia bridge fractured prematurely (eleven months), encouraging an investigation into its design and failure mechanisms. STL files obtained from the dental laboratory revealed regions of reduced framework thickness, falling below the manufacturer’s recommendations. Fractographic analysis of the fractured pieces indicated a multifactorial failure pattern. Notable features included a thick cement layer, surface damage likely caused by the CAM bur during milling, and occlusal wear affecting the glazed surface. Crack propagation was observed in an occlusal-to-cervical direction. While no single factor could be definitively identified as the primary cause, the failure is attributed to the combined effect of insufficient design, surface damage, and biomechanical overload. Importantly, most such factors are not visible before failure, raising questions about the proper evaluation of zirconia-based restorations prior to their cementation. Full article

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

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8 pages, 1870 KB

Open AccessCase Report

Failure of Direct Oral Anticoagulation in Preventing Left Ventricular Thrombus Progression After Myocardial Infarction: A Case Report

by Andreas Merz, Daniel Armando Morris, Henryk Dreger, Ingo Hilgendorf and Matthias Schneider-Reigbert

Reports 2026, 9(1), 48; https://doi.org/10.3390/reports9010048 - 2 Feb 2026

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Abstract

Background and Clinical Significance: Left ventricular thrombus formation after acute coronary syndrome represents a severe complication. Comprehensive echocardiographic assessment of the entire ventricle is essential, as regional wall motion abnormalities predispose to thrombus development. Although vitamin K antagonists have traditionally been the [...] Read more.

Background and Clinical Significance: Left ventricular thrombus formation after acute coronary syndrome represents a severe complication. Comprehensive echocardiographic assessment of the entire ventricle is essential, as regional wall motion abnormalities predispose to thrombus development. Although vitamin K antagonists have traditionally been the cornerstone of therapy, the convenience of direct oral anticoagulants has made them increasingly popular. However, the paucity of prospective data raises concerns regarding their general interchangeability. Case Presentation: We present a case of a basal left ventricular thrombus that rapidly progressed in size despite triple antithrombotic therapy including Apixaban. Conclusions: Following ACS, regional LV dysfunction predisposes to LVT formation—even in patients with only mild to moderate systolic impairment or non-apical akinesia. Although rare, LVT may also develop in basal and mid-ventricular segments. Anticoagulant selection should remain individualized, and short-term follow-up imaging is necessary to monitor therapeutic response. Full article

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

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12 pages, 3097 KB

Open AccessCase Report

SLIPPERS Reconsidered: Clinical, Radiological, and Pathological Overlap with PACNS—A Case Report

by Inhar Esnaola Barriola, Celia Fernández Gonzalez, Teresa Cabada Giadas, María Victoria Zelaya Huerta and María Elena Erro Aguirre

Reports 2026, 9(1), 47; https://doi.org/10.3390/reports9010047 - 31 Jan 2026

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Abstract

Background and Clinical Significance: SLIPPERS syndrome (Supratentorial Lymphocytic Inflammation with Parenchymal Perivascular Enhancement Responsive to Steroids) was first described in 2015 as a variant of CLIPPERS restricted to supratentorial regions. Only a few cases have been reported so far, and its distinction from [...] Read more.

Background and Clinical Significance: SLIPPERS syndrome (Supratentorial Lymphocytic Inflammation with Parenchymal Perivascular Enhancement Responsive to Steroids) was first described in 2015 as a variant of CLIPPERS restricted to supratentorial regions. Only a few cases have been reported so far, and its distinction from primary angiitis of the central nervous system (PACNS) remains challenging, as both may present with overlapping clinical, radiological, and histopathological features. We report two patients initially diagnosed with SLIPPERS but finally fulfilling the diagnostic criteria for PACNS, highlighting the complexity of the differential diagnosis. Case Presentation: The first patient was a 49-year-old woman who presented with seizures, memory impairment, and facial neuralgia. MRI showed multiple cortico-subcortical and deep nodular lesions in the left hemisphere with gadolinium enhancement. Brain biopsy revealed a T-cell-predominant lymphocytic vascular infiltrate. She responded to corticosteroids but later relapsed, requiring methotrexate for long-term immunosuppression, with no further recurrences during seven years of follow-up. The second patient was a 64-year-old man with hypertension, dyslipidemia, and alcohol use who developed repeated focal-to-generalized seizures. MRI disclosed multifocal nodular gadolinium-enhancing right hemispheric lesions, with SWI microhemorrhages. Biopsy demonstrated transmural T-cell vasculitic infiltrates. He responded to corticosteroids and methotrexate, but radiological progression at 14 months prompted replacement with cyclophosphamide. Conclusions: There is a considerable clinical, radiological, and histological overlap between SLIPPERS and PACNS. Careful analysis of advanced MRI sequences, particularly angiographic and vessel-wall imaging studies, combined with meticulous histopathological analysis, is essential to avoid misdiagnosis. These similarities suggest that some cases attributed to SLIPPERS may, in fact, correspond to variants of PACNS. Full article

(This article belongs to the Section Neurology)

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10 pages, 2662 KB

Open AccessCase Report

Skeletal Class III Camouflage Using Carriere^® Motion 3D and Clear Aligners: A Hybrid Case Report Approach

by Luis Huanca Ghislanzoni, Claudia Lapprand and Thomas Mourgues

Reports 2026, 9(1), 46; https://doi.org/10.3390/reports9010046 - 31 Jan 2026

Viewed by 239

Abstract

Background and Clinical Significance: Treating severe skeletal Class III malocclusions in adults who refuse orthognathic surgery remains challenging. Orthodontic camouflage offers a non-surgical option to improve occlusion and esthetics. Case Presentation: A 26-year-old male with a full bilateral Class III malocclusion [...] Read more.

Background and Clinical Significance: Treating severe skeletal Class III malocclusions in adults who refuse orthognathic surgery remains challenging. Orthodontic camouflage offers a non-surgical option to improve occlusion and esthetics. Case Presentation: A 26-year-old male with a full bilateral Class III malocclusion and anterior crossbite was treated following the “Sagittal First” philosophy. The Carriere^® Motion 3D Class III appliance was used for mandibular distalization, combined with active maxillary aligners and Class III elastics. After 32 months, a stable Class I occlusion with proper overjet, overbite, and improved sagittal balance was obtained. Cephalometric analysis showed clockwise mandibular rotation and satisfactory dentoalveolar compensation. Conclusions: Combining the Carriere^® Motion 3D appliance with clear aligners can successfully camouflage severe skeletal Class III malocclusions in adults, providing a predictable and esthetic non-surgical alternative. Full article

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

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5 pages, 440 KB

Open AccessCase Report

Infantile Cataracts Associated with a Homozygous Missense MSMO1 Variant—Case Report and Literature Review

by Nick Hassas, Andy Drackley, Jelena Ivanisevic, Hantamalala Ralay Ranaivo and Sudhi P. Kurup

Reports 2026, 9(1), 45; https://doi.org/10.3390/reports9010045 - 30 Jan 2026

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Abstract

Background and Clinical Significance: MSMO1, encoding a key enzyme in the cholesterol synthesis pathway, is associated with an autosomal recessive condition characterized by microcephaly, ocular abnormalities, growth delay, psoriasiform dermatitis, immune dysfunction, and intellectual disability. Case Presentation: This report describes a [...] Read more.

Background and Clinical Significance: MSMO1, encoding a key enzyme in the cholesterol synthesis pathway, is associated with an autosomal recessive condition characterized by microcephaly, ocular abnormalities, growth delay, psoriasiform dermatitis, immune dysfunction, and intellectual disability. Case Presentation: This report describes a patient presenting with global developmental delay and bilateral infantile cataracts found to harbor a homozygous likely pathogenic MSMO1 variant and reviews the literature on MSMO1 deficiency and its association with infantile cataracts. Conclusions: The mechanism of early lens opacification is thought to result from impaired cholesterol synthesis, altering the lipid composition of the lens membrane and leading to early cataract formation. This case expands our understanding of MSMO1 deficiency and highlights the critical role of cholesterol biosynthesis in early lens development. Full article

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12 pages, 3767 KB

Open AccessCase Report

A Rare Case of Reversible Pulmonary Hypertension Phenotype in a Child with Scurvy: Aetiologies Insights

by Mattia Pasquinucci, Luisa Bonsembiante, Sofia Mezzalira, Martina Locallo and Davide Meneghesso

Reports 2026, 9(1), 44; https://doi.org/10.3390/reports9010044 - 30 Jan 2026

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Abstract

Background and Clinical Significance: Scurvy, caused by chronic vitamin C deficiency, is re-emerging in Western countries, particularly among pediatric patients with highly selective diets. While its musculoskeletal and mucocutaneous manifestations are well-known, its association with pulmonary arterial hypertension (PAH) is rare and poorly [...] Read more.

Background and Clinical Significance: Scurvy, caused by chronic vitamin C deficiency, is re-emerging in Western countries, particularly among pediatric patients with highly selective diets. While its musculoskeletal and mucocutaneous manifestations are well-known, its association with pulmonary arterial hypertension (PAH) is rare and poorly understood. Ascorbic acid and iron are essential cofactors for prolyl hydroxylases (PHD), which regulate Hypoxia-Inducible Factors. Their combined deficiency may trigger a “pseudohypoxic” state, leading to pulmonary vascular remodeling and vasoconstriction. Case Presentation: A 30-month-old female presented with a one-month history of limping, lower limb pain, and gingival hypertrophy. Dietary history revealed an almost exclusive cow’s milk-based intake. Physical examination showed diffuse petechiae, pallor, and right knee edema. Laboratory findings confirmed scurvy (undetectable vitamin C), severe iron-deficiency anemia (Hb: 72 g/L; ferritin: 22 mcg/L; RDW: 30%), folate deficiency, and hyperhomocysteinemia. Notably, elevated copper and vitamin B12 levels suggested a state of metabolic dysregulation. Echocardiography revealed moderate PAH phenotype (estimated sPAP: 47–50 mmHg) and a hyperdynamic contractility. A “perfect storm” mechanism was hypothesized, involving iron–ascorbate-dependent PHD impairment, high-output state, and oxidative-stress-induced hepcidin dysregulation (suggested by elevated copper). Following intravenous vitamin C and multivitamin supplementation, pulmonary pressures normalized within one week. Conclusions: PAH phenotype in scurvy represents a reversible metabolic disruption of pulmonary vascular tone rather than a structural disease. This case underscores the synergistic role of vitamin C, iron, and folate in vascular homeostasis. Clinicians should maintain high suspicion for scurvy in children with selective diets and unexplained PAH, as nutritional restoration is curative. Full article

(This article belongs to the Section Paediatrics)

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10 pages, 4814 KB

Open AccessCase Report

Ultrasound Assessment in Merkel Cell Carcinoma: Case Report and Narrative Literature Review

by Vincenza Amoruso, Letizia Castelli, Anastasia Mercurio, Patrizia Matano and Giacomo Montaldi

Reports 2026, 9(1), 43; https://doi.org/10.3390/reports9010043 - 29 Jan 2026

Viewed by 183

Abstract

Background and Clinical Significance Merkel cell carcinoma (MCC) is a rare and aggressive neuroendocrine skin malignancy. Early diagnosis is essential to optimize therapeutic strategies and improve prognosis. However, the role of high-frequency ultrasound (HFUS) in the diagnostic and follow-up phases of MCC remains [...] Read more.

Background and Clinical Significance Merkel cell carcinoma (MCC) is a rare and aggressive neuroendocrine skin malignancy. Early diagnosis is essential to optimize therapeutic strategies and improve prognosis. However, the role of high-frequency ultrasound (HFUS) in the diagnostic and follow-up phases of MCC remains under-investigated and underutilized in clinical practice. Case Presentation We present a case of MCC initially referred to a physiatric outpatient clinic for a functional disorder of the third finger, where HFUS revealed a well-circumscribed, hypoechoic subdermal lesion with central and peripheral vascularity. Surgical excision, histopathology, and immunohistochemistry confirmed the diagnosis of Merkel cell carcinoma. The HFUS findings were correlated with histological features, and a structured sonographic follow-up protocol was established postoperatively. Conclusions This case highlights the diagnostic and prognostic potential of HFUS in MCC, especially in early detection, surgical planning, and longitudinal follow-up. A multidisciplinary approach integrating ultrasound imaging, surgery, and pathology may enhance diagnostic accuracy and patient management. Full article

(This article belongs to the Section Oncology)

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4 pages, 2804 KB

Open AccessCorrection

Correction: Wakefield et al. ICG Lymphography Confirms the Presence of an Alternative Lymph Drainage Pathway Following Long-Term Manual Therapy: A Case for Preserving Traditional MLD Approaches. Reports 2025, 8, 63

by Mary Wakefield, Jan Douglass, Diane Lacey, Neil Piller and Linda Blanchfield

Reports 2026, 9(1), 42; https://doi.org/10.3390/reports9010042 - 29 Jan 2026

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Abstract

The authors wish to make the below corrections to this paper [...] Full article

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8 pages, 3029 KB

Open AccessCase Report

A Rare Metastatic Squamous Cell Carcinoma of the Lacrimal Sac Originating from Nasopharyngeal Carcinoma: A Case Report

by Vasileios Papanikos, Spyridon Lygeros, Athanasios Vlachodimitropoulos, Michail Athanasopoulos, Stylianos Mastronikolis and Nicholas S. Mastronikolis

Reports 2026, 9(1), 41; https://doi.org/10.3390/reports9010041 - 28 Jan 2026

Viewed by 228

Abstract

Background and Clinical Significance: Metastatic carcinoma of the lacrimal sac originating from primary nasopharyngeal carcinoma (NPC) is a rare entity, usually presenting with chronic, unilateral epiphora. Case Presentation: A 55-year-old male patient presented with symptoms of chronic persistent dacryocystitis of the [...] Read more.

Background and Clinical Significance: Metastatic carcinoma of the lacrimal sac originating from primary nasopharyngeal carcinoma (NPC) is a rare entity, usually presenting with chronic, unilateral epiphora. Case Presentation: A 55-year-old male patient presented with symptoms of chronic persistent dacryocystitis of the left eye for a year. His history revealed a non-keratinizing NPC diagnosed 5 years earlier, which was treated with combined radiotherapy (RT) and chemotherapy (CMT). Following CT and MRI scans, a mass was identified at the left lacrimal sac suggestive of a neoplasm in that region. The patient underwent endoscopic dacryocystorhinostomy (DCR), with tissue samples taken for biopsy. The histopathological diagnosis revealed a metastatic carcinoma of the lacrimal sac originating from the nasopharynx. The postoperative course was uneventful. However, a follow-up positron emission tomography-computed tomography (PET-CT) scan showed a hypermetabolic lesion in the left orbital cavity, infiltration of the lacrimal sac, hypermetabolic lateral cervical lymph nodes (IIA-IIB), and a hypermetabolic parotid lymph node. The patient is currently receiving combined CMT and immunotherapy (IMT) and is scheduled to receive RT thereafter. Conclusions: The non-specific symptomatology of the disease might be a reason for delayed diagnosis. Early recognition requires a high index of suspicion, while therapy mainly focuses on RT, CMT, IMT, and rarely on surgical approaches. A multidisciplinary approach and coordination are indispensable for the best possible treatment outcome. Full article

(This article belongs to the Section Otolaryngology)

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8 pages, 602 KB

Open AccessCase Report

Non-Woven Haemostatic Agent Mimicking Perigraft Abscess Following Thoracic Aortic Surgery

by Ali Ansaripour, Arian Arjomandi Rad, Andrea D’Alessio and Antonios Kourliouros

Reports 2026, 9(1), 40; https://doi.org/10.3390/reports9010040 - 28 Jan 2026

Viewed by 146

Abstract

Background and Clinical Significance: Absorbable haemostatic agents such as Surgicel^® Fibrillar are useful adjuncts to control post-surgical bleeding in cardiac surgery. The material is purposefully left in situ and it slowly degrades over time. Previous publications, mainly in general and gynaecological [...] Read more.

Background and Clinical Significance: Absorbable haemostatic agents such as Surgicel^® Fibrillar are useful adjuncts to control post-surgical bleeding in cardiac surgery. The material is purposefully left in situ and it slowly degrades over time. Previous publications, mainly in general and gynaecological surgery, have demonstrated that these materials can mimic gangrenous infection, abscesses, anastomotic leak, and early tumour recurrence in imaging studies. These findings can often lead to unnecessary re-interventions or re-operations. The number of reports in the cardiothoracic surgical field is limited. Case Presentation: We report a 45-year-old man who underwent aortic valve replacement and ascending aorta and hemiarch replacement. In this case, Surgicel^® Fibrillar was used to optimise graft contouring, contributing to postoperative imaging appearances that initially raised concern for infection. The patient was conservatively managed given his stable clinical picture and focused review of CT images with the knowledge of location of Surgicel^® Fibrillar. Repeat CT scan after 2 weeks showed a significant reduction in collection size and complete resolution of air bubbles within the collection. Conclusions: It is important for cardiothoracic surgeons and radiologists to be aware of the early CT appearances of haemostatic agents to minimise erroneous diagnosis of postoperative complications leading to unnecessary interventions. This case highlights a diagnostic pitfall in postoperative imaging, where retained absorbable haemostatic material may mimic serious infective complications and lead to unnecessary re-intervention if operative and radiological findings are not carefully correlated. Full article

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

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7 pages, 188 KB

Open AccessCase Report

Silent Damage, Delayed Symptoms: A Case of Breast Cancer Radiation–Induced Lumbosacral Plexopathy

by Christian Messina

Reports 2026, 9(1), 39; https://doi.org/10.3390/reports9010039 - 27 Jan 2026

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Abstract

Background and Clinical Significance: Radiation-induced lumbosacral plexopathy (RILP) is a rare but potentially debilitating complication of radiotherapy, typically affecting patients treated for pelvic malignancies. We report the first documented case of asymmetric RILP following radiotherapy for breast cancer. Case Presentation: A [...] Read more.

Background and Clinical Significance: Radiation-induced lumbosacral plexopathy (RILP) is a rare but potentially debilitating complication of radiotherapy, typically affecting patients treated for pelvic malignancies. We report the first documented case of asymmetric RILP following radiotherapy for breast cancer. Case Presentation: A 64-year-old woman developed progressive left lower limb weakness, foot drop, and sensory disturbances four years after receiving locoregional radiotherapy extending to the left thoracoabdominal and lumbar areas. Electrophysiological studies revealed an asymmetric sensorimotor axonal neuropathy predominantly involving the left lower limb, without conduction block and sparing the upper limbs, whereas needle electromyography of the lower limbs showed fibrillation potentials, positive sharp waves, and fasciculations in the vastus lateralis, tibialis anterior, and medial gastrocnemius muscles on the left. Magnetic resonance imaging demonstrated edema and contrast enhancement of bilateral L2–L4 nerve roots with paraspinal muscle atrophy. Cerebrospinal fluid analysis showed albuminocytologic dissociation and elevated neurofilament levels. After exclusion of alternative diagnoses, including amyotrophic lateral sclerosis and inflammatory neuropathies, a diagnosis of radiation-induced peripheral neuropathy and RILP was made. The patient’s condition stabilized with physiotherapy and symptomatic treatment. Conclusions: This case highlights the need for heightened awareness of RILP as a late complication of breast cancer radiotherapy, underscoring the importance of accurate diagnosis to avoid misclassification and unnecessary treatments. Clinicians should carefully integrate all clinical elements—including a thorough remote medical history—since radiation-related neurological damage may manifest many years after the initial insult. Full article

(This article belongs to the Section Neurology)

10 pages, 4011 KB

Open AccessCase Report

Mantle Cell Lymphoma with Persistent Massive Pleural Effusions Requiring Invasive Mechanical Ventilation and Bilateral Continuous Thoracic Drainage

by Taichiro Tokura, Youhei Imai, Satoshi Sakai, Reina Saga, Hiroko Hidai and Sayuri Motomura

Reports 2026, 9(1), 38; https://doi.org/10.3390/reports9010038 - 27 Jan 2026

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Abstract

Background and Clinical Significance: Mantle cell lymphoma (MCL) frequently involves bone marrow, gastrointestinal tract, and hepatosplenomegaly, whereas pleural effusions are uncommon. Cases requiring invasive mechanical ventilation and thoracic drainage are rare. We report a case of MCL with persistent massive pleural effusions requiring [...] Read more.

Background and Clinical Significance: Mantle cell lymphoma (MCL) frequently involves bone marrow, gastrointestinal tract, and hepatosplenomegaly, whereas pleural effusions are uncommon. Cases requiring invasive mechanical ventilation and thoracic drainage are rare. We report a case of MCL with persistent massive pleural effusions requiring invasive mechanical ventilation and bilateral continuous thoracic drainage. Case Presentation: A 71-year-old woman presented with dyspnea and was found to have bilateral pleural effusions and generalized lymphadenopathy. Shortly after admission, she developed acute respiratory failure due to pleural effusions and required invasive mechanical ventilation. Right-sided continuous thoracic drainage was initiated. Thereafter, more than 1 L of pleural fluid was drained each day. Flow cytometry of the pleural fluid showed CD5-positive B cells with kappa light-chain restriction. Bone marrow examination revealed abnormal lymphocyte infiltration. Cervical lymph node biopsy demonstrated diffuse proliferation of medium-sized, abnormal B lymphocytes with an immunophenotype of CD5⁺, CD19⁺, CD20⁺, cyclin D1⁺, SOX11⁺, and κ⁺, with a Ki-67 index of 20%, confirming MCL, stage IV. Immunochemotherapy with rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP) was commenced under mechanical ventilation. Shortly thereafter, left-sided continuous thoracic drainage was also initiated. However, in response to immunochemotherapy, the bilateral pleural effusions gradually subsided, enabling extubation, and there was no reaccumulation after removal of both chest tubes. Furthermore, generalized lymphadenopathy regressed, and bone marrow examination revealed resolution of lymphoma infiltration, resulting in complete remission. Conclusions: De novo MCL complicated by persistent massive pleural effusions requiring invasive mechanical ventilation and bilateral continuous thoracic drainage is rare. A thorough diagnostic workup followed by prompt initiation of immunochemotherapy can arrest pleural output, enable extubation, and be lifesaving. Clinicians should recognize that MCL rarely presents with persistent massive pleural effusions. Full article

(This article belongs to the Section Haematology)

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11 pages, 1069 KB

Open AccessCase Report

Neuronal Heterotopy in a Patient with Wiedemann–Steiner Syndrome Caused by a Truncating KMT2A Variant: Clinical and Genetic Correlations

by Teodora Sokolova, Hristo Ivanov, Margarita Panova, Iglika Sotkova-Ivanova and Vili Stoyanova

Reports 2026, 9(1), 37; https://doi.org/10.3390/reports9010037 - 26 Jan 2026

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Abstract

Background and clinical significance: Wiedemann–Steiner syndrome (WSS) is a rare autosomal dominant neurodevelopmental disorder caused by heterozygous pathogenic variants in the KMT2A gene, which encodes a histone lysine methyltransferase essential for chromatin regulation. Affected individuals commonly present with developmental delay, intellectual disability, [...] Read more.

Background and clinical significance: Wiedemann–Steiner syndrome (WSS) is a rare autosomal dominant neurodevelopmental disorder caused by heterozygous pathogenic variants in the KMT2A gene, which encodes a histone lysine methyltransferase essential for chromatin regulation. Affected individuals commonly present with developmental delay, intellectual disability, behavioral disturbances, short stature, characteristic facial features, and hypertrichosis, along with variable additional congenital anomalies. Emerging genotype–phenotype correlations suggest two functional classes of KMT2A variants: loss-of-function variants, typically associated with the classic WSS phenotype and muscular hypotonia, and non-loss-of-function variants, which more often correlate with drug-resistant epilepsy and microcephaly. No recurrent variants or clear genotype–phenotype correlations have been established outside the CXXC domain, and most pathogenic variants are private or novel, contributing to phenotypic heterogeneity. Case presentation: We present a case of a 14-year-old female with a pathogenic nonsense truncating variant in the KMT2A gene and typical features of Wiedemann–Steiner syndrome. Additionally, the patient exhibited microcephaly and structural epilepsy due to neuronal heterotopy—features that are rarely described in individuals with truncating variants in this gene and have not been reported in the two published cases of individuals with the same mutation. Conclusions: This case highlights atypical genotype–phenotype correlations and expands the clinical spectrum of truncating KMT2A variants in Wiedemann–Steiner syndrome. Full article

(This article belongs to the Section Paediatrics)

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10 pages, 3619 KB

Open AccessCase Report

Successful Remission of Refractory Oral Ulcers Treated with Low-Dose Thalidomide and Colchicine: A Case Report

by Shun-Yu Kan, Yu-Kai Sung, Chia-Lu Hsu and Kuo-Chou Chiu

Reports 2026, 9(1), 36; https://doi.org/10.3390/reports9010036 - 26 Jan 2026

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Abstract

Background and Clinical Significance: Oral ulcers are a common disease for dental practitioners. The policy of treating oral ulcers includes removing etiology and medication. Standard management of oral ulcers includes elimination of etiologic factors and pharmacologic therapy. Topical corticosteroids are the most [...] Read more.

Background and Clinical Significance: Oral ulcers are a common disease for dental practitioners. The policy of treating oral ulcers includes removing etiology and medication. Standard management of oral ulcers includes elimination of etiologic factors and pharmacologic therapy. Topical corticosteroids are the most commonly used medicine for oral ulcers. Exclude possible etiologies related to ulcers; refractory ulcers need systemic evaluation and precise medication use to improve patients’ quality and satisfaction. Case Presentation: We present a case of refractory oral ulcers resistant to multiple conventional treatments, which were found to be ineffective. These ulcers significantly impact patient quality of life. We prescribed a series of oral ulcer treatments following the removal of cause factors, such as rounding the teeth and making a soft occlusal bite plate to reduce traumatic sources from the patient’s Parkinson’s disease. A biopsy of the ulcer lesions was also done. All the treatments involving corticosteroids and removing the ulcer-associated etiology were ineffective. Conclusions: Finally, combined therapy using low-dose thalidomide (50 mg/day) and colchicine (1.5 mg/day) resulted in substantial clinical improvement, and complete remission was sustained for over six months without recurrence. A narrative discussion of relevant literature is provided to contextualize therapeutic considerations in refractory oral ulceration. Conclusion: This case suggests that low-dose thalidomide and colchicine combination therapy may be a therapeutic consideration for refractory oral ulcers when conventional management fails; however, the observation is hypothesis-generating and further studies are required to evaluate efficacy and safety. Full article

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

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