Reports

Background and Clinical Significance: Colonic lipomas are benign tumors composed of adipose tissue, frequently asymptomatic and found incidentally on routine surveillance. Most lesions are smaller than 2 cm in diameter, while giant lipomas are characterized as over 4 cm. Giant colonic lipomas, though rare, may present with obstructive symptoms, gastrointestinal bleeding or intussusception and can mimic malignant lesions on imaging and endoscopic examination. Historically, the resection of these lesions has been limited to those that are larger or symptomatic. Recent observations indicate that lipomas may retain growth potential and can become symptomatic over time, though being inconsequential initially. Surgical resection is favored over endoscopic excision for lipomas above 2 cm to mitigate risks including haemorrhages and perforations. Case Presentation: We report a case of a 38-year-old female who exhibited non-specific gastrointestinal symptoms with a high suspicion of malignancy based on imaging and endoscopy but was ultimately diagnosed with a benign giant colonic lipoma. Conclusions: This case presents the challenges in diagnosing giant colonic lipomas, which, in certain cases, can mimic malignant lesions. Histopathological analysis remains the gold standard for confirming the diagnosis, especially in cases with atypical features. Full article

Background and Clinical Significance: Ciliopathies are a heterogeneous group of diseases caused by damage to the primary cilium. Disorders of ciliary motility can lead to a wide range of clinical manifestations, including infertility, lateralization defects, lung infections, and more. Some ciliopathies associated with kidney disease include nephronophthisis, polycystic disease, and renal cell carcinoma. Since they are clinically and genetically diverse, their diagnosis may require a longer time and one or more genetic assays. Case presentation: We present the case of a 43-year-old man with a wide anamnesis, including unexplained nephrolithiasis, bronchiectasis, recurrent otitis media since infancy, appendicular lithiasis, and infertility. After a long history of various clinical examinations and consultations with diverse specialists, he was referred to genetic counseling. Whole exome sequencing (WES) revealed a homozygous pathogenic variant in the RSPH3 gene—NM_031924.8:c.205-2A>G—which was later confirmed through Sanger sequencing. It is classified as pathogenic in widely used databases and is associated with primary ciliary dyskinesia. This condition can present nontypically, and the patients might suffer from an extensive diagnostic odyssey. Being mindful of its clinical and genetic heterogeneity can shorten the period until diagnosis. Conclusions: It is essential to have this condition included in differential diagnosis and involve specialists from the medical/clinical genetic department in a multidisciplinary team. Genetic confirmation through WES or another molecular genetic method is crucial for the therapeutic approach and to adequately perform genetic counseling for patients and their families. Full article

Background and Clinical Significance: Lipomas, benign tumors composed of adipose tissue, are recognized as one of the two most common fat-containing soft tissue tumors, underscoring their relative prevalence among benign tumors in children. Despite their prominence, lipomas rarely occur before 20 years of age, highlighting a discrepancy between their commonality and the age at which they typically manifest. This case report focuses on a 11-year-old patient who noticed the presence of an intraoral mass, which prompted further investigation, ultimately leading to the diagnosis of a lipoma located on the palate. Following our diagnosis, we searched for similar cases; however, the relevant literature was rather limited. There was a case report of a 4-year-old patient who presented with a lipoma on her tongue and a case report of a 6-year-old patient who presented with a lipoma on the buccal mucosa. Case Presentation: The young patient came with his parents to the Department of Oral Medicine and Pathology, School of Dentistry, Aristotle University of Thessaloniki, Greece, and reported the presence of a growth in the middle of the upper jaw. A tumor, of approximately 1 cm diameter, was observed in the middle of the palate, on the border between the hard and soft palate. The surrounding mucosa appeared normal, which is critical in differentiating the tumor from more aggressive pathological entities. It was characterized by a soft and slippery consistency. The patient was referred to a cone beam computed tomography (CBCT) examination to investigate if there was any bone involvement. Based on clinical and radiographical findings, a biopsy was carried out. The tumor was initially excised in its entirety and the base was electrocauterized to avoid placing sutures. The histopathological examination that followed suggested the presence of an intraoral lipoma since lobules of mature adipose tissue in lamina propria and fatty tissue in close proximity to mucinous salivary glands were noticed. Conclusions: The development of lipomas in young patients can be attributed to a multitude of factors that interplay with one another, emphasizing the need for a comprehensive understanding of these growths. Additionally, underlying conditions such as diabetes mellitus, hypercholesterolemia, and obesity also play a crucial role, highlighting the interconnected nature of metabolic disorders and lipoma formation. The surgical approaches for the removal of oral lipomas primarily revolve around complete surgical excision, which is considered the mainstay treatment for these benign tumors. Full article

Background and Clinical Significance: Ectopic variceal bleeding is a rare, but regrettably life-threatening, complication of hepatic cirrhosis. There is no standardized approach to this life-threatening event due to the absence of randomized controlled trials. Prompt identification of the bleeding site is crucial for timely hemostasis using endoscopic, radiologic or surgical methods. Case presentation: Throughout this paper, we present the case of a 52-year-old patient with decompensated alcoholic cirrhosis, who was admitted for melena. Upper and lower endoscopy failed to identify the source of bleeding. Ultimately, an evaluation with endoscopic capsule identified ileal varices. The patient was referred to surgery and the outcome was successful. We approached the diagnostic and therapeutic arsenals in managing ectopic varices. Conclusions: Although ectopic variceal bleeding has a substantial potential for fatal outcomes, prompt intervention in a multidisciplinary team could be the key for patient salvation. Full article

Background and clinical significance: Phyllodes tumors (PTs) are rare stromal neoplasms originating in the connective tissue of the breast, distinct from carcinomas that arise from the ducts or lobules. These tumors exhibit a broad spectrum of morphologic features and are traditionally classified as benign, borderline, or malignant. Case presentation: We present the case of a 71-year-old female diagnosed with a malignant PT and treated at our hospital. The patient noticed a gradually enlarging lump in her right breast over several months. Mammography was inconclusive, but an ultrasound later revealed a lobulated, firm mass, classified as BIRADS 5. Physical examination identified a 20 cm mass, and core needle biopsy suggested a borderline PT. Following lumpectomy, pathology confirmed a malignant tumor with narrow surgical margins (0.1 cm). Although mastectomy was recommended to achieve wider margins, the patient opted for adjuvant radiotherapy. She received 50 Gy in 25 fractions to the whole breast, followed by a 16 Gy boost to the tumor bed in 8 fractions. The treatment was well tolerated and completed successfully. Initially, the patient’s therapeutic management was delayed due to a combination of personal and organizational factors. However, the process was later streamlined through the use of a novel digital tool developed to facilitate the entire patient journey within our hospital system. Conclusions: This case highlights the diagnostic complexities of PTs, the critical need for effective collaboration between specialties, and the importance of timely treatment planning for optimal patient outcomes. Full article

Background and Clinical Significance: Pulmonary hypertension (PH) is characterized by an increase in mean pulmonary arterial pressure and pulmonary vascular resistance. It is frequently encountered in patients with significant intracardiac shunts, often necessitating the implementation of a closure device or surgical correction. Nevertheless, the occurrence of a concomitant atrial septal defect (ASD) with a right-to-left shunt inducing left ventricular dysfunction is a rare phenomenon. Case Presentation: A 69-year-old female patient with a history of heart failure (with preserved ejection fraction) and end-stage renal disease on hemodialysis presented to an outside facility, with syncope and hypoxia. She was recently diagnosed with severe pulmonary hypertension (measuring 86 mmHg). Right heart catheterization (RHC) revealed precapillary pulmonary hypertension (88/37/54 mmHg), prompting the initiation of intravenous epoprostenol. Nevertheless, the patient was persistently hypoxic, raising the possibility of a concomitant diagnosis. Upon review of the prior echocardiogram, which included a bubble study, an intracardiac shunt was identified. It was hypothesized that a combination of right ventricular failure and the right-to-left shunt resulting from the ASD contributed to the persistent hypoxemia. In light of this, prostacyclin therapy was continued alongside adjunctive vasopressors, resulting in clinical stabilization. The patient was eventually discharged with a treatment regimen that included subcutaneous Treprostinil. Conclusions: It is important to recognize that the consequences of PH are extensive, and that a rare yet significant etiology for persistent hypoxemia may be attributed to right-to-left shunting. Full article

Background and Clinical Significance: Childhood obesity and its associated complications are an emerging public health problem; thus, non-communicable chronic disease prevention should be implemented as early as possible. On the other hand, obesity management in children is a challenge in terms of achieving fat tissue reduction without any adverse outcomes on overall development. This is why close cooperation with young patients and their parents is crucial for success. Moreover, non-invasive but detailed monitoring guaranties insight in this process’s progress and safety. As obesity is a chronic disease with a tendency for recurrence, further follow-up should also be considered. Case Presentation: We present a case of a 10-year-old boy who was referred to a dietitian due to concerns about a diagnosis of obesity and metabolic complications including abnormal lipid profile and liver function. During the dietary consultation, body composition assessment with bioelectrical impedance analysis was conducted, which confirmed obesity. A detailed interview allowed for the identification of improper dietary patterns. The implemented lifestyle education and qualitative diet modifications led to fat mass reduction without any significant muscle loss after just one month. The metabolic profile was also improved. The patient remained under the care of a dietitian for the next 4 years with constant body composition monitoring, which enabled the relevant parties to address if body mass gain was a part of his normal development or if he suffered from obesity recurrence. The patient and his parents benefited from an individualized, patient-centered approach including dietary education, overall lifestyle modification, and detailed body composition monitoring. This way, the patient succeeded in fat content reduction with the constant assessment of the safety of this process. Moreover, the dietary education impacted the whole family’s lifestyle. Conclusions: This case emphasizes the role of body composition assessment in children. Obesity and metabolic complications resulting from an improper lifestyle can affect pediatric patients. Bioelectrical impedance analysis is a non-invasive tool that can improve the safety and effectiveness of nutritional interventions and could be included in routine pediatric obesity assessment. Full article

Background: Among the various forms of root resorption, External Apical Root Resorption (EARR) has garnered particular attention due to its prevalence and potential complications associated with orthodontic interventions. Methods: An electronic search of literature was performed between September 2024 and December 2024 to identify all articles investigating the Role of Genetic Polymorphisms in External Apical Root Resorption Among Orthodontic Patients: Implications for Treatment Outcomes. The search was conducted using MEDLINE (National Library of Medicine)-PubMed with restrictions concerning the date of publication. In particular, we focused on the period 2014–2024 using the following keywords: gene polymorphisms AND orthodontic treatment AND apical root resorption OR external apical root resorption. This was followed by a manual search, and references were used to identify relevant articles. Results: The review showed that certain variations of the following genes may be positively associated with OIEARR: Osteopontin gene, P2RX7, IL-1β, IL-6, IL1RN, OPG, RANK, STAG2, RP1-30E17.2, SSP1, SFRP2, TNFSF11, TNFRSF11A, TNFRSF11B, VDR, CYP27B1, ACT3N, TSC2, WNT3A, LRP1, LRP6. Conversely, the IRAK1 gene has a protective function against the development of OIEARR. Conclusions: Despite these advancements, it is still not feasible to establish new guidelines and clinical protocols based on the existing research findings. The integration of genetic considerations into orthodontic practice has the potential to revolutionize treatment strategies, ensuring that they are not only effective but also respectful of each patient’s unique biological landscape. Full article

Background and Clinical Significance: Treatment resistant psychiatric disorders affect millions of people across the globe. Ketamine has been employed as a treatment option for those with treatment resistant depression, as well as for chronic pain and alcohol use disorder. However, case presentations and research has been limited on the outcomes, and furthermore there is even less on the patient or caregiver perspective on the impact of the treatment. Case Presentation: Here, we present a middle-aged male who has undergone 20 intravenous (IV) ketamine infusions to treat Complex Post-Traumatic Stress Disorder (C-PTSD) and Major Depressive Disorder (MDD). We provide both qualitative perspectives from the patient, caregiver, as well as quantitative analyses of the patient from the Patient Health Questionnaire-9 (PHQ9), Beck’s Depression Inventory (BDI), and the Neurobehavioral Symptom Inventory (NSI) following treatment and weekly (4 weeks) assessments between treatments. Conclusions: Collectively, these data provide a holistic view of the use of ketamine for this patient on a variety of mental health, physiological, and behavioral conditions. Full article

Background and Clinical Significance: The purpose of this report is to investigate the feasibility of combined modality treatment in a case of locally advanced cervical cancer in a patient with inherited epidermolysis bullosa as well as to suggest a protocol for cervical electronic brachytherapy. Case Description: The patient was treated with image-guided external beam radiotherapy and concomitant chemotherapy to a dose of 45 Gy in 25 fractions with a simultaneously integrated boost of 55 Gy in involved lymph nodes. The maximal skin dose was 34.09 Gy. Intracavitary electronic brachytherapy was applied to the uterine cervix in 4 fractions of 7 Gy and contributed no dose to the skin. Discussion: The treatment was tolerated well with no early toxicity. During the 3-month period of follow-up, no adverse events of grade 2 or higher were detected, and no exacerbation of skin lesions was noted. Conclusions: This is the first report of treatment of cervical cancer in a patient with inherited epidermolysis bullosa where combined concurrent chemoradiotherapy and intracavitary electronic brachytherapy demonstrated feasibility and safety. The followed institutional protocol for treatment planning and delivery ensured low doses to organs and risk and reproducibility. Full article

Background and Clinical Significance: Recto-vaginal fistulae (RVF) and fecal incontinence (FI) pose significant challenges for colorectal surgeons. Various therapeutic options have been proposed for each condition over time. Despite its procedural complexity and the risk of complications, graciloplasty remains a viable therapeutic option for both conditions, with favorable long-term results. To our knowledge, this is the first report of a case where the need to treat both conditions concurrently arose. Case Presentation: We report the case of a 54-year-old woman with severe FI and repeatedly operated on recurrent recto-vaginal fistula. The patient underwent graciloplasty to provide healthy tissue with an adequate vascular supply to both enhance the healing process of the fistula and reshape the anal canal with a circular muscular structure. Following the procedure, the patient experienced prompt symptom resolution and good clinical and functional recovery at a 1-year follow-up evaluation. Conclusions: This case report highlights the safety and effectiveness of an overlooked procedure for the treatment of large sphincter defects and concurrent recto-vaginal or recto-vaginal tears. Full article

Background and Clinical Significance: Pneumocephalus, an accumulation of air within the cranial cavity, typically arises from trauma or iatrogenic causes. However, spontaneous occurrences of this are rare and linked to various pathologies affecting the paranasal sinuses, the ear, or the skull base. The impact of air travel on individuals with pneumocephalus remains uncertain despite ongoing research. We report a unique case of spontaneous tension pneumocephalus attributed to a frontal sinus osteoma during air travel. Case Presentation: A 55-year-old man presented with headache and dizziness, initiated during a nine-hour international flight two weeks prior. The symptoms abated after landing but recurred on his return flight, accompanied by confusion the following day. A neurological examination revealed no deficits. CT and MRI scans indicated the presence of intraparenchymal air collection in the right frontal lobe, attributed to a frontal sinus osteoma causing a dural tear. Surgical intervention included duroplasty and osteoma removal, with postoperative recovery free of complications. Conclusions: Frontal sinus osteoma-induced tension pneumocephalus is exceedingly rare, with only limited cases reported in the literature. This case shows that air travel may exacerbate intracranial gas dynamics that lead to development of tension pneumocephalus with a potentially fatal outcome for patients. Full article

Background and Clinical Significance: Mexiletine is a class 1B antiarrhythmic drug commonly prescribed for ventricular arrhythmias and neuropathic pain. It works as a blocker of the sodium channel that modulates cardiac conduction and reduces aberrant nerve signaling. While it is generally well tolerated, gastrointestinal side effects, such as nausea, vomiting, and abdominal pain, are relatively common. Esophagitis and esophageal ulcerations have been described as rare side effects; however, they are poorly documented in the literature. Esophageal ulceration induced by oral medications, termed pill esophagitis, occurs due to prolonged contact between the medication and the esophageal mucosa. Factors contributing to this phenomenon include improper administration, such as swallowing without sufficient water, taking medication before lying down, or inherent irritant properties of the drug itself. Mexiletine-induced esophageal ulceration has not been extensively reported, making such cases clinically significant and worth investigating. In particular, the prompt diagnosis of mexiletine-induced esophageal injury is essential for timely treatment initiation or the discontinuation of the drug, preventing complications such as bleeding, strictures, or perforation. Altogether, these actions are important to prevent the onset of potentially serious complications, such as bleeding, strictures, and the perforation of the esophagus. Case Presentation: Two different patients were included in this case report on mexiletine-induced esophageal ulceration: a 78-year-old woman affected by primary dilated cardiomyopathy and atrial fibrillation with high ventricular response and a 19-year-old man affected by dilated cardiomyopathy and systemic sclerosis. Conclusions: This case report underscores the importance of recognizing mexiletine-induced esophageal ulceration, and it advocates for timely diagnosis and management to optimize patient outcomes. Full article

Background and Clinical Significance: When lactate production surpasses the body’s clearance capacity, hyperlactatemia (lactate ≥ 2 mmol/L) or lactic acidosis (lactate ≥ 4 mmol/L) can develop. Lactic acidosis is classified into type A, which arises from regional or global tissue hypoperfusion, and type B, resulting from metabolic disturbances without tissue hypoxia. Type A lactic acidosis, often associated with conditions like sepsis or shock, is a critical marker of life-threatening conditions, whereas type B lactic acidosis is less frequently recognized in clinical practice. Case Presentation: A 95-year-old man presents with an asthma exacerbation and is treated with an albuterol inhaler. However, he is found to have persistently high lactate levels. Further investigation reveals a congenital intrahepatic portosystemic shunt on imaging. This, in conjunction with the ongoing use of beta-adrenergic receptor agonists, contributes to the development of type B lactic acidosis. Conclusions: The impact of lactic acidosis depends on its severity and clinical context. While beta agonists are a recognized cause of type B lactic acidosis, a potential role for structural liver abnormalities in reduced lactate clearance must be examined further. Full article

Background and Clinical Significance: Lemierre’s syndrome, also known as the “forgotten disease”, is a rare clinical syndrome of septic thrombophlebitis associated with morbidity and mortality. This study reports on a 6-year-old boy diagnosed with Lemierre’s syndrome, providing an in-depth case analysis and a comprehensive review of the current literature on this uncommon condition. Case Presentation: A 6-year-old boy was admitted to the pediatric intensive care unit (PICU) with septic shock, presenting with a high-grade fever of 39.5 °C for 10 days and swelling in the left leg for one week. Additionally, he had a history of swelling in the left mandibular area for five days and a skin rash. His recent medical history was unremarkable, except for decreased activity and oral intake over the past three days. Both his neonatal and past medical histories were unremarkable. Upon admission to the PICU, a multidisciplinary team was assembled to address his condition. Following a comprehensive history, physical examination, and relevant investigations, the child was diagnosed and managed as a case of Lemierre’s syndrome—the first reported case in Saudi Arabia. Treatment included antibiotics, unfractionated heparin infusion, and analgesics. Family members were counseled on the nature, severity, and prognosis of the disease. Despite the optimal treatment given to this patient, the patient died from multiorgan failure as a complication of the disease after an eight-day stay in the PICU. Conclusions: This paper reports the main presenting features and the workup of a 6-year-old male child diagnosed and managed as a case of Lemierre’s syndrome in the Saudi Arabian context. The early recognition of the symptoms of Lemierre’s syndrome and introduction of appropriate treatment in multidisciplinary teamwork are crucial to improve the outcomes of such a life-threating syndrome. Full article

Background and Clinical Significance: Neuromyelitis optica spectrum disorder (NMOSD) is a rare autoimmune demyelinating disorder of the central nervous system, characterized by the presence of aquaporin-4 (AQP4) antibodies and a high relapse rate. We provide information about the diagnosis, unusual symptoms, and treatment of a paediatric patient with NMOSD. Case Presentation: A 14-year-old girl was hospitalized for weakness and paraesthesia of the lower limbs (LL). The patient underwent detailed investigations and was diagnosed with NMOSD and cryptogenic organizing pneumonia. Initial treatment with methylprednisolone and prednisone yielded a favourable response. Therapy with mycophenolate was initiated. However, the patient experienced two more relapses, prompting the use of rituximab therapy with a favourable outcome and a two-year relapse-free follow-up period. Conclusions: Patients with NMOSD may have multisystemic inflammation, including organs outside the central nervous system. Our case report highlights a case of NMOSD, pulmonary involvement, and unusual adverse reactions to rituximab. Full article

Background and Clinical Significance: This should include a brief introduction about the general medical condition or relevant symptoms that will be discussed in the case report and should succinctly summarize the critical essential clinical information of the case report and emphasize its new and vital aspects. Case Presentation: A 72-year-old man diagnosed with DLBCL involving chromosomal translocations t(1;22)(q21;q11.2) and t(6;18)(p25;q21) showed primary refractory disease after the fourth cycle of R-CHOP. The patient ultimately experienced cardiac involvement due to the lymphoma and received salvage chemotherapy. He passed away about 15 months after the diagnosis of DLBCL. We conducted fluorescence in situ hybridization (FISH) for further analysis of the chromosomal translocations. The breakpoint of chromosome 1q21 was located at a distance of around 151 Mb from the telomeric end of chromosome 1p. The breakpoint in chromosome 22q11 contains the immunoglobulin lambda locus. Furthermore, the breakpoint of chromosome 6p was in the telomeric region of chromosome 6p21. The breakpoint of chromosome 18q21 contains BCL2. Conclusions: This case report presents the first documented co-occurrence of chromosomal translocations t(1;22)(q21;q11.2) and t(6;18)(p25;q21) in a patient with DLBCL. These chromosomal translocations may indicate a worse clinical outcome. Full article

Background and Clinical Significance: Aceruloplasminemia (ACP), a member of the neurodegeneration with brain iron accumulation (NBIA) spectrum of disorders, is a rare disorder caused by mutations in the ceruloplasmin (CP) gene. Iron accumulation in various organs, including the brain, liver, eyes, and heart, can lead to a broad clinical spectrum. Here, we report the first case of ACP in Greece. Case Presentation: Our patient was a 53-year-old male who was referred to our movement disorders center for a 6-month history of mild, unspecific, episodic dizziness and postural instability, and attention and memory deficits. Brain MRI revealed significant iron accumulation in multiple brain regions, including the dentate nuclei, cerebellar cortex, basal ganglia, thalamus, brainstem nuclei, and hypothalamus. These findings were particularly evident in susceptibility-weighted images. Fundoscopy revealed a normal retina, optic nerve, and macula. Whole-exome sequencing revealed a novel homozygous frameshift mutation in the CP gene [NM_000096.3:p.Thr3232fs (c.9695delC)]. This mutation has not been previously reported and is predicted to result in premature protein termination, supporting its pathogenic nature. Laboratory tests showed no anemia but revealed significantly elevated serum ferritin and low serum iron. Subsequent testing revealed extremely low serum CP and low serum copper. Despite less involvement of the myocardium, our patient succumbed to cardiac arrest. Conclusions: ACP should be considered in cases with minor neurological signs and symptoms. Brain MRI plays a significant role in early diagnosis. Close cardiac monitoring is also important. Full article

Background and Clinical Significance: Head and neck teratomas are embryonal tumors that develop when totipotent germ cells escape the developmental control of primary organizers and form a more-or-less organoid mass in which tissues from all three germ layers (ectoderm, endoderm, and mesoderm) can be identified. Mature teratomas may either transit into germ cell or non-germ cell malignancies or remain histologically mature with the possibility of growing, thus inducing certain complications when reaching a large size. This article aims to investigate a very rare case of a 6-year-old child who exhibited a recurrent intraoral mass with multiple conflicting biopsies. Case Presentation: A 6-year-old male patient was referred to the postgraduate clinic of the Department of Oral Medicine/Pathology, Dental School, Faculty of Health Sciences, Aristotle University of Thessaloniki, Greece, because his pediatric dentist noticed an exophytic, intraoral mass, distal to tooth #75 during a routine checkup. The first histopathological examination showed a gingival tumor, classified as a small round blue cell tumor, with greater similarity to adamantinoma-like Ewing sarcoma (ALES) and less to synovial sarcoma. The second pathologist examined the same tissue specimen and suggested the extremely rare presence of an immature malignant teratoma. Following chemotherapy, the rest of the teratoma with the adjacent tooth #75 was removed, and the histopathological examination showed a mature teratoma. Conclusions: This case illustrates the crucial role of the dentist, and in this case of the pediatric dentist, to promptly diagnose the underlying disease. Genetic screening may assist in detecting high-risk populations. In such complex histopathological cases, the importance of cooperating with experienced oral and maxillofacial pathologists is highlighted. We describe a rare case of intraoral malignant teratoma, and an extended literature review revealed that our case is the first ever reported. Full article